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Otofaciocervical syndrome
2 OMIM references -
2 associated genes
11 connected diseases
22 signs/symptoms
Disease Type of connection
BOR syndrome
Branchio-otic syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Isolated Klippel-Feil syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Schizencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Synonym(s):
- Fara-Chlupackova syndrome
- OFC syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
EYA1 Q99502601653
PAX1 P15863167411
Very frequent
- Abnormal dermatoglyphics
- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Broad cheeks / cherub-like / cherubin face
- Clavicle absent / abnormal
- Conductive deafness / hearing loss
- Depressed nasal bridge
- High vaulted / narrow palate
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large ear
- Prominent / bat ears
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Antihelix anomaly
- Delayed bone age

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- External auditory canal atresia / stenosis / agenesis
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy