Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome

Orpha code: 329224OMIM code: 615009

Definicja

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
PACS1-related syndrome
Zespół niepełnosprawności intelektualnej, dysmorfii czaszkowo-twarzowej oraz wnętrostwa
Schuurs-Hoeijmakers syndrome
Kod ORPHA
329224
Kod OMIM
615009
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

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