X-linked intellectual disability-craniofacioskeletal syndrome
Findings
No curated finding names X-linked intellectual disability-craniofacioskeletal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
Definition from the Mondo Disease Ontology (MONDO:0010412), read 2026-09-29. CC BY 4.0.
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral ptosisHPOHP:0001488
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Overhanging nasal tipHPOHP:0011833
- Frequent (30% to 79% of cases)
- Pes planusHPOHP:0001763
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- Short 5th fingerHPO
Show the remaining 36
- Underdeveloped nasal alaeHPOHP:0000430
- Frequent (30% to 79% of cases)
- 2-3 toe syndactylyHPOHP:0004691
- Occasional (5% to 29% of cases)
- Absent gallbladderHPOHP:0011467
- Occasional (5% to 29% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the nailsHPOHP:0008386
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: X-linked intellectual disability-craniofacioskeletal syndrome
- Also called
- craniofacioskeletal syndrome, X-linked recessive, X-linked dominant