Hypertrichosis cubiti
Synonyms: Hairy elbows syndrome · MacDermot-Patton-Williams syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypertrichosis cubiti | Hairy elbows syndrome · MacDermot-Patton-Williams syndrome |
| fr | Hypertrichose cubitale | Syndrome de MacDermot-Patton-Williams · syndrome de coudes chevelus |
| de | Hypertrichosis cubiti | Behaarte-Ellenbogen-Syndrom · Mac-Dermot-Patton-Williams-Syndrom |
| es | Hipertricosis cubital | Síndrome de MacDermot-Patton-Williams · Síndrome de los codos peludos |
| it | Ipertricosi dei gomiti | Gomiti pelosi · Sindrome di MacDermot-Patton-Williams |
| nl | Hypertrichosis cubiti | Behaarde ellebogen-syndroom · Syndroom van MacDermot-Patton-Williams |
| pt | Hipertricose cubital | Síndrome MacDermot-Patton-Williams · Síndrome de cotovelos peludos |
| pl | Hipertrichoza łokciowa | Owłosione łokcie · Zespół MacDermota, Pattona i Williamsa |
| cs | Hypetrichosis cubiti | Syndrom zahrnující hypertrichosis cubiti a nízký vzrůst · Syndrom chlupatých předloktí · MacDermotův-Pattonův-Williamsův syndrom · MacDermot-Patton-Williamsův syndrom |
| uk | Гіпертрихоз ліктьової ділянки | Синдром волохатих ліктів · Синдром Макдермота-Паттона-Вільямса |
| zh | 肘部多毛症 | MacDermot-Patton-Williams综合征 |
| tr | Hipertrikoz kubiti | Tüylü dirsek sendromu · MacDermot-Patton-Williams sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 139600 | E | validated | |
| ICD-10 | Q84.2 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MeSH | C535618 | E | validated | |
| UMLS | C1841696 | E | validated | |
| GARD | 143 | E | validated | |
| MedDRA | 10068636 | 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 (2):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 16355816[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.
HPO phenotypes
27 annotations · validated 2017-07-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011121 | Abnormal skin morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0002230 | Generalized hirsutism | |
| HP:0002983 | Micromelia | |
| HP:0008905 | Rhizomelia | |
| HP:0003510 | Severe short stature | |
| Frequent (79-30%) | ||
| HP:0002381 | Aphasia | |
| HP:0010529 | Echolalia | |
| HP:0000324 | Facial asymmetry | |
| HP:0002300 | Mutism | |
| HP:0000311 | Round face | |
| Occasional (29-5%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0000614 | Abnormal nasolacrimal system morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0000464 | Abnormality of the neck | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0000252 | Microcephaly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000508 | Ptosis | |
| HP:0001328 | Specific learning disability | |
| HP:0000574 | Thick eyebrow | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2220
- This record as JSON: /data/d/2220.json