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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
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Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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