CHILD syndrome
Findings
No curated finding names CHILD syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
Definition from the Mondo Disease Ontology (MONDO:0010621), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
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.
- 2-5 finger cutaneous syndactylyHPOHP:0005650
- 1 of 1 reported patient
- 4-5 toe syndactylyHPOHP:0004692
- 1 of 1 reported patient
- Absent middle phalanx of 2nd fingerHPOHP:0009576
- 1 of 1 reported patient
- Absent middle phalanx of 3rd fingerHPOHP:0009438
- 1 of 1 reported patient
- Absent toeHPOHP:0010760
- 2 of 2 reported patients
- Aplasia of the distal phalanx of the 2nd fingerHPOHP:0009565
- 1 of 1 reported patient
- Aplasia of the distal phalanx of the 3rd finger
Show the remaining 36
- OrthokeratosisHPOHP:0040162
- 1 of 1 reported patient
- Single transverse palmar creaseHPOHP:0000954
- 1 of 1 reported patient
- Small nailHPOHP:0001792
- 1 of 1 reported patient
- SyndactylyHPOHP:0001159
- 1 of 1 reported patient
- Very rare (1% to 4% of cases)
- Unilateral renal agenesisHPOHP:0000122
- 1 of 1 reported patient
- Epiphyseal stipplingHPOHP:0010655
- Very frequent (80% to 99% of cases) · Infantile onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NSDHLHGNC:13398
- Definitive · G2P · X-linked · 2023
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: CHILD syndrome
- Also called
- child nevusCHILD syndrome, X-linked dominantIchthyosis, CHILD Syndrome