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Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Disease 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.
ORPHA:329224
Classification level: Disorder- Synonym(s):
- PACS1-related syndrome
- Schuurs-Hoeijmakers syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.0
- OMIM: 615009
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()
Detailed information
General public
- Article for general public
- English (2016, pdf) - Unique
- Español (2018, pdf) - Unique
- Français (2020, pdf) - Unique
- Russian (2020) - Unique
Disease review articles
- Clinical genetics review
- English (2020) - GeneReviews


Additional information