| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| Metaphyseal chondrodysplasia, McKusick type |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| Hay-Wells syndrome of ectodermal dysplasia |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Sparse hair with short stature and skin anomaly syndrome |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| McCune Albright syndrome (disorder) |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterised by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
4 |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
5 |
| A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| Kohlschutter's syndrome |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| Brachyolmia type 1 Toledo type |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Paraplegia, brachydactyly, cone-shaped epiphysis syndrome |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| Larsen syndrome |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| Pachyonychia congenita type III of Schafer-Brunauer (disorder) |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Pachyonychia congenita type II of Jackson-Lawler (disorder) |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| Acrodysostosis |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
6 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| Mandibuloacral dysostosis |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
4 |
| A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Spondyloepimetaphyseal dysplasia Bieganski type |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia with characteristics of severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. Caused by homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
4 |
| A rare genetic immuno-osseous dysplasia disorder with characteristics of pre and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly). Also associated are humeral immunodeficiency with inability to generate specific antibodies and low circulating B-cells, craniofacial dysmorphism that typically includes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip. There is evidence the disease is caused by compound heterozygous mutation in the RNU4ATAC gene on chromosome 2q14. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary haemangioma. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary haemangioma. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| A rare primary bone dysplasia disorder with characteristics of congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
3 |
| A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| A rare genetic primary bone dysplasia with characteristics of disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay, markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. There is evidence the disease is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| Pyknodysostosis |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
4 |
| A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| Peripheral dysostosis |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
4 |
| A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
1 |
| A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
| An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
4 |
| Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. |
Associated morphology |
False |
kongenit dysplasi |
Inferred relationship |
Some |
2 |
FHIR