Craniosynostosis, Boston type

Orpha code: 1541OMIM code: 604757

Definicja

Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Craniosynostosis, Warman type
Kraniosynostoza typu Warmana
Zespół Warmana, Mullikena i Haywarda
Warman-Mulliken-Hayward syndrome
Kod ORPHA
1541
Kod OMIM
604757
Kod ICD10
Q75.8
Kod ICD11
LD24.GY

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl