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Postaxial acrofacial dysostosis
1 OMIM reference -
1 associated gene
4 connected diseases
19 signs/symptoms
Disease Type of connection
Isolated CoQ-cytochrome C reductase deficiency
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Oxoglutaricaciduria
Synonym(s):
- Acrofacial dysostosis, Genee-Wiedmann type
- Mandibulfacial dysostosis with postaxial limb anomalies
- Miller syndrome
- POADS
- Postaxial acrodysostosis

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
DHODH Q02127126064
Very frequent
- Abnormal dermatoglyphics
- Autosomal recessive inheritance
- Coloboma of the eyelid
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Ectropion / entropion / eyelid eversion
- Flat cheek bones / malar hypoplasia
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Supernumerary nipples / polythelia
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Frequent
- Camptodactyly of some fingers
- Cleft lip and palate
- Conductive deafness / hearing loss
- Congenital cardiac anomaly / malformation / cardiopathy
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Syndactyly of fingers / interdigital palm

Occasional
- Strabismus / squint