<unk>  is a rare human disorder characterized mainly by ligamentous<unk> , small eyes, a lack of<unk>  muscles and facial anomalies.
Abdominal musculature absent with microphthalmia and joint laxity
Severe achondroplasia with developmental delay and acanthosis nigricans
Hand and foot deformity with flat facies
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Cleft lip and cleft palate
Umbilical cord ulceration and intestinal atresia
Elfin facies
Asymmetric crying facies