The clinical features of this disease, per organ system, include:
Central Nervous System (CNS)
- Hypotonia
- Seizures
- Psychomotor retardation
- Dilation and calcification of brain ventricles
- Other rarer manifestations:
- Brain atrophy
- Cerebellar hypoplasia
- Polymicrogyria
- Retrocerebellar cyst
Head and Neck
- Microcephaly
- Aplasia cutis congenita of the scalp
- Dysmorphic facial features (some patients), including:
- Hypertelorism
- Small palpebral fissures
- Low set ears
- Low hair line
- Micrognathia
- Depressed nasal bridge
- Bulbous nasal tip
- Other rarer manifestations:
- Prominent ears
- Strabismus
- Microphthalmia
- Congenital cataract
- Optic atrophy
- Congenital vitreoretinal abnormalities
- Macrocephaly
Skeletal
- Terminal transverse limb defects
- Shortened digits of the hands and feet
- Distorted palmar creases
- Interdigital webbing
Skin and Nails
- Aplasia cutis congenita of the abdomen (some patients)
- Cutis marmorata
- Prominent extremities, trunk, and scalp veins
- Hypoplastic nails
Other(s)
- Oligohydramnios
- Lymphedema of the upper or lower extremities (rare)
- Aortic valve dysplasia (rare)