Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Synonyms: PACS1-related syndrome | Schuurs-Hoeijmakers syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome?
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