| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| A rare syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| An extremely rare lethal primary bone dysplasia with characteristics of thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| A rare genetic primary immunodeficiency disorder with characteristics of increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D) and learning difficulties (LE). There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Herpes barbae (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioural problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Melnick-Needles syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of varying degrees of intellectual disability, global developmental delay (notably with severe speech and language impairment), muscular hypotonia, and facial dysmorphism (such as broad forehead, bitemporal narrowing, upslanting palpebral fissures, low-set ears, flat nasal bridge, bulbous nose and variably macroglossia). Highly variable additional features include cardiac defects (including persistent foramen ovale, ventricular septal defects, tetralogy of Fallot), coordination problems, seizures, abnormal growth parameters (including microcephaly, low birth and postnatal weight) and brain morphology anomalies (such as ventriculomegaly and myelination defects). |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
| Solitary median maxillary central incisor syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Potter's facies |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| A rare genetic central nervous system malformation syndrome with characteristics of early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. There is evidence the disease is caused by homozygous mutation in the SNX14 gene on chromosome 6q14. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Reunion Island Larsen-like syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic intellectual disability characterised by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behaviour (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| A rare neurological disease with characteristics of a generally deep poorly localised persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Femoral hypoplasia - unusual facies syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Leprechaunism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Chemical burn of face (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Hennekam lymphangiectasia-lymphedema syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Desbuquois syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
| Winchester syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Williams syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
5 |
| Fragile X syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Neurofibroma of face (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Angelman syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Marshall-Smith syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Craniofacial deafness hand syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Myhre syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Barber-Say syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
| Structure of jaw region of face |
Is a |
False |
Face structure |
Inferred relationship |
Some |
|
| åbent sår på kæbe med komplikation |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
2 |
| åbent sår på kæbe uden komplikation |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
2 |
| Finding related to jaw protrusion (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Severely limited jaw protrusion (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Limited jaw protrusion (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Normal jaw protrusion (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
6 |
| A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. In males the disease has characteristics of infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. The syndrome is due to Xq28 duplications (< 4 Mb) involving the dosage-sensitive gene MECP2. The pattern of inheritance is X-linked. The recurrence risk is significant if the duplication encompassing the MECP2 gene is inherited from the mother, but very low if the duplication is de novo. There is full disease penetrance in males and variable penetrance in females due to the level and type of X-inactivation. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
2 |
| Complex laceration of chin |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
2 |
| Contaminated complex laceration of chin |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
2 |
| Chin lift |
Procedure site |
False |
Face structure |
Inferred relationship |
Some |
3 |
| Pain in chin |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
2 |
| Gunshot wound of face |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
4 |
| Goldenhar syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
3 |
| Otomandibular dysostosis |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
4 |
| A rare oromandibular-limb hypogenesis syndrome (OLHS) characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly). |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
5 |
| A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
4 |
| Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
3 |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
4 |
| An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
2 |
| The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
4 |
| Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
4 |
| Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
5 |
| Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
6 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
5 |
| A rare genetic premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
5 |
| 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. |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
4 |
| Megalencephaly capillary malformation |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Crush injury of face and scalp |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| 14q32 deletion syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
5 |
| Autosomal recessive Robinow syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
5 |
| Malposition of fetus in face presentation |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Right mentolateral position |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Left mentoanterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Left mentoposterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Right mentoanterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Left mentolateral position |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Right mentoposterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Mentoanterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Direct mentoanterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Mentoposterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Direct mentoposterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Mentolateral position |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Foreign body in skin of face with infection (disorder) |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
1 |
| A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
5 |
| 6q16 microdeletion syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
7 |
| Primary leiomyosarcoma of face (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Primary angiosarcoma of face |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
2 |
FHIR