Hypotrichosis-intellectual disability, Lopes type
historical
Synonyms: Lopes-Marques de Faria syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- historical
A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypotrichosis-intellectual disability, Lopes type | Lopes-Marques de Faria syndrome |
| fr | Hypotrichose-déficience intellectuelle, type Lopes | Syndrome de Lopes-Marques de Faria |
| de | Hypotrichose mit Intelligenzminderung Typ Lopes | Lopes-Marques-de-Faria-Syndrom |
| es | Hipotricosis-discapacidad intelectual tipo Lopes | Síndrome de Lopes-Marques de Faria |
| it | Ipotricosi-disabilità intellettiva tipo Lopes | Sindrome di Lopes-Marques de Faria |
| nl | Hypotrichose-intellectuele achterstand, Lopes-type | Syndroom van Lopes-Marques de Faria |
| pt | Hipotricose-perturbação do desenvolvimento intelectual, tipo Lopes | Síndrome Lopes-Marques de Faria |
| pl | Hipotrichoza - niepełnosprawność intelektualna typu Lopesa | Zespół Lopesa i Marques de Faria |
| cs | Hypertrichóza a mentální retardace, Lopesové typ | Lopesové-Marques de Fariaové syndrom · Lopes-Marques de Fariaové syndrom |
| uk | Гіпотрихоз - розумова відсталість, тип Лопеса | Синдром Лопеса-Маркеса де Фаріа |
| zh | 少毛症-智力障碍Lopes型 | Lopes-Marques de Faria综合征 |
| tr | Hipotrikoz-zihinsel yetersizlik, Lopes tipi | Lopes-Marques de Faria sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| MONDO | 0016414 | E | validated | |
| UMLS | C4509839 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 2 cases | Worldwide | Case(s) | Validated | 8652088[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8652088[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
4 annotations · validated 2019-02-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0006088 | 1-5 finger complete cutaneous syndactyly | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0001249 | Intellectual disability | |
| HP:0008070 | Sparse hair | |
Annotation source: 8652088[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2266
- This record as JSON: /data/d/2266.json