ORPHA:139
CHILD syndrome
Synonyms: CHILD nevus · Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CHILD syndrome | CHILD nevus · Congenital hemidysplasia with ichthyosiform erythroderma and limb defects |
| fr | Syndrome CHILD | Naevus CHILD · Syndrome d'hémidysplasie congénitale-érythrodermie ichtyosiforme-anomalies des membres |
| de | CHILD-Syndrom | CHILD-Naevus · Kongenitale Hemidysplasie mit ichthyosiformen Naevus und Gliedmaßendefekten |
| es | Síndrome CHILD | Hemidisplasia congénita con eritrodermia ictiosiforme y defectos en las extremidades · Nevo CHILD |
| it | Sindrome CHILD | Emidisplasia congenita con eritroderma ittiosiforme e anomalie degli arti · Nevo CHILD |
| nl | CHILD-syndroom | CHILD-naevus · Congenitale hemidysplasie met ichthyosiforme erytrodermie en ledemaatdefecten |
| pt | Síndrome CHILD | Hemidisplasia congénita com eritrodermia ictiosiforme e anomalias dos membros · Nevus CHILD |
| pl | Zespół CHILD | Wrodzona hemidysplazja ze znamionami w postaci rybiej łuski i wadami kończyn · Znamię CHILD |
| cs | CHILD syndrom | CHILD névus · Vrozená hemidysplázie s ichtiosiformními névy a defekty končetin |
| uk | Синдром CHILD | Невус CHILD · Вроджена гемодисплазія з іхтіозиформною еритродермією та дефектами кінцівок |
| zh | CHILD综合征 | 先天性偏侧发育不良伴鱼鳞病样痣及肢体缺陷 |
| tr | CHILD sendromu | CHILD nevüs · İktiyoziform nevüs ve ekstremite defektleri ile seyreden doğumsal hemidisplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308050 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.04 | NTBT | index | validated |
| MONDO | 0010621 | E | validated | |
| MeSH | C562515 | E | validated | |
| UMLS | C0265267 | E | validated | |
| GARD | 6039 | E | validated | |
| MedDRA | 10081963 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:93442Chondrodysplasia punctata
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases - ORPHA:79195Sterol biosynthesis disorder
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases - ORPHA:281210X-linked ichthyosis syndrome
rare genetic diseases; rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NSDHL | Disease-causing germline mutation(s) in | Assessed | HGNC:13398 | ENSG00000147383 | 300275 | Xq28 | NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | 10710235[PMID]_11907515[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 20929975[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
23 annotations · validated 2024-12-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010655 | Epiphyseal stippling | |
| Frequent (79-30%) | ||
| HP:0100803 | Abnormality of the periungual region | |
| HP:0045060 | Aplasia/hypoplasia involving bones of the extremities | |
| HP:0007431 | Congenital ichthyosiform erythroderma | |
| HP:0008394 | Congenital onychodystrophy | |
| HP:0025092 | Epidermal acanthosis | |
| HP:0000962 | Hyperkeratosis | |
| HP:0001036 | Parakeratosis | |
| HP:0010049 | Short metacarpal | |
| HP:0031517 | Verruciform xanthoma | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0009827 | Amelia | |
| HP:0003651 | Foam cells | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0002828 | Multiple joint contractures | |
| HP:0012165 | Oligodactyly | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0004552 | Scarring alopecia of scalp | |
| HP:0002650 | Scoliosis | |
| Very rare (<4-1%) | ||
| HP:0000126 | Hydronephrosis | |
| HP:0010442 | Polydactyly | |
| HP:0000104 | Renal agenesis | |
| HP:0001159 | Syndactyly | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29939590[PMID]_21290788[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139
- This record as JSON: /data/d/139.json