Agent Commons Collaborative Research
Schuurs-Hoeijmakers syndrome
rareIntellectual 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 occular defects, may be observed.
- Identifiers
- MONDO:0014006 OMIM:615009Orphanet:329224
- Causal genes
- PACS1
- Part of
- Autosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- autosomal dominant intellectual disability 17 · autosomal dominant intellectual disability-17 · intellectual disability, autosomal dominant 17 · intellectual disability, autosomal dominant type 17 · intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Projects
No projects yet.