CHAND syndrome
Synonyms: Baughman syndrome · CHANDS · Curly hair-ankyloblepharon-nail dysplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CHAND syndrome | Baughman syndrome · CHANDS · Curly hair-ankyloblepharon-nail dysplasia syndrome |
| fr | Syndrome CHAND | CHANDS · Syndrome de Baughman · Syndrome de cheveux frisés-ankyloblépharon-dysplasie des ongles |
| de | CHAND-Syndrom | Baughman-Syndrom · CHANDS · Kraushaar-Ankyloblepharon-Nageldysplasie-Syndrom |
| es | Síndrome CHAND | Cabellos rizados-anquilobléfaron-displasia ungueal · Síndrome de Baughman |
| it | Sindrome CHAND | |
| nl | CHAND-syndroom | CHANDS · Krullend haar - ankyloblefaron - nageldysplasie-syndroom · Syndroom van Baughman |
| pt | Síndrome CHAND | Síndrome Baughman · Síndrome cabelo encarapinhado-anquiloblefaro-displasia ungueal |
| pl | Zespół CHAND | CHANDS · Zespół Baughman · Zespół kręte włosy- ankyloblefaron - dysplastyczne paznokcie |
| cs | CHAND syndrom | CHANDS · Baughmanův syndrom · Syndrom zahrnující kudrnaté vlasy, ankyloblefaron a dysplázii nehtů |
| uk | Синдром CHAND | Синдром Баумана · CHANDS · Синдром кучерявого волосся-анкілофарон-нігтьової дисплазії |
| zh | CHAND综合征 | 卷发-睑缘粘连-甲发育不良综合征 |
| tr | CHAND sendromu | CHANDS · Baughman sendromu · Kıvırcık saç-ankiloblefaron-tırnak displazisi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 214350 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008959 | E | validated | |
| MeSH | C538074 | E | validated | |
| UMLS | C0406733 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RIPK4 | Disease-causing germline mutation(s) in | Assessed | HGNC:496 | ENSG00000183421 | 605706 | 21q22.3 | receptor interacting serine/threonine kinase 4 | 28940926[PMID]_25098893[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28940926[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2019-03-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009755 | Ankyloblepharon | Diagnostic criterion |
| HP:0002212 | Curly hair | Diagnostic criterion |
| HP:0002164 | Nail dysplasia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0200160 | Agenesis of maxillary incisor | |
| HP:0006349 | Agenesis of permanent teeth | |
| HP:0001251 | Ataxia | |
| HP:0100750 | Atelectasis | |
| HP:0010297 | Bifid tongue | |
| HP:0000175 | Cleft palate | |
| HP:0002710 | Commissural lip pit | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000958 | Dry skin | |
| HP:0000072 | Hydroureter | |
| HP:0000316 | Hypertelorism | |
| HP:0000966 | Hypohidrosis | |
| HP:0030011 | Imperforate hymen | |
| Occasional (29-5%) | ||
| HP:0004704 | Short fifth metatarsal | |
| Excluded (0%) | ||
| HP:0001270 | Motor delay | |
| HP:0200041 | Skin erosion | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 2012123[PMID]_490586[PMID]_8209899[PMID]_26129644[PMID]_28940926[PMID]_23610050[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1401
- This record as JSON: /data/d/1401.json