Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome

Orpha code: 329224OMIM code: 615009

Definition

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
Classification

Malformation syndrome

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

No additional description.

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