intellectual disability-polydactyly-uncombable hair syndrome
Findings
No curated finding names intellectual disability-polydactyly-uncombable hair syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.
Definition from the Mondo Disease Ontology (MONDO:0017682), read 2026-09-29. CC BY 4.0.
Features
34 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.
- Abnormal antihelix morphologyHPOHP:0009738
- Very frequent (80% to 99% of cases)
- Abnormal antitragus morphologyHPOHP:0009896
- Very frequent (80% to 99% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal hair morphologyHPOHP:0001595
- Very frequent (80% to 99% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
Show the remaining 22
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Hernia of the abdominal wallHPOHP:0004299
- Very frequent (80% to 99% of cases)
- Hypoplasia of penisHPOHP:0008736
Where it sits
Other names
1 name
Resolves to: intellectual disability-polydactyly-uncombable hair syndrome
- Also called
- Kozlowski-Krajewska syndrome