Pascual-Castroviejo syndrome type 1 is a rare autosomal recessive condition characterized by facial dysmorphism, cognitive impairment and skeletal anomalies.
Signs and symptoms
These can be divided into four areas
Facial features
Brachycephaly
Low hairline
Narrow forehead
Bushy eyebrows
Synophrys
Hypertelorism
Ptosis
Broad nose
Wide philtrum
Triangular shaped mouth
Maxillary hypoplasia
Cleft lip and palate
Small conical teeth
Short neck
Skeletal abnormalities
Abnormalities of the upper thoracic vertebrae and ribs
Hypermobility
Talipes (clubfoot)
Central nervous system
Hypoplasia of the corpus callosum and cerebellar vermis
Cognitive impairment
Chiari I malformation
Optic nerve colobomas
Grey matter hypodensity
Other
Hypothyroidism
Genetics
This disease is caused by mutations in the transmembrane and coiled-coil domain-containing protein 1 (TMCO1) on the long arm of chromosome 1. [Source: Wikipedia ]