Ehlers-Danlos syndrome musculocontractural type 1

An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring,

An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14.

Signs and symptoms

• Thoracic lordosis
• Narrow mouth
• Short nose
• Hypertelorism
• Large fontanelles
• Delayed gross motor development
• Low-set ears
• Facial asymmetry
• Long philtrum
• Short columella