Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

Orpha code: 314575OMIM code:

Definicja

Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
314575
Kod OMIM
-
Kod ICD10
-
Kod ICD11
-

No additional description.

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