Acrofrontofacionasal dysostosis syndrome
Synonyms
4
Overview
A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
Symptoms
- Absent eyebrows
- Decreased eyebrows
- Absent fingernails
- Small fingernails
- Cleft lip
- Broad forehead
- Wide set eyes
- Long nose
- Large nose
- Bulbous nose
- Broad great toe
- Dwarfism
- Underdeveloped ends of fingers
- Protruding lips
- Abnormal urinary tract function
- Cerebral cortex atrophy
- Cleft palate
- Hole in the eyelid
- Decreased skin pigmentation
- Irregular skin pigmentation
- Downslanted fissures
- Epiphyseal anomaly
- High vaulted palate
- Narrow palate
- Bifid great toe
- Brushfield spots
- Camptodactyly
- Mental retardation
- Short limbs
- Short head
- Flat occiput
- Short digits
- Midface anomalies
- Droopy eyelid
- Short stature
- Abnormal kidney function
- Abnormal nasal morphology
- Abnormality of calvarial morphology
- Abnormality of epiphysis morphology
- Abnormality of thumb phalanx
- Anonychia
- Aplasia/Hypoplasia of the eyebrow
- Brachydactyly syndrome
- Broad forehead
- Brushfield spots
- Camptodactyly of finger
- Cerebral cortical atrophy
- Cleft eyelid
- Cognitive impairment
- Hypertelorism
- Hypopigmented skin patches
- Malar flattening
- Micromelia
- Non-midline cleft lip
- Ptosis
- Short distal phalanx of finger
Resources
- NIH