Intellectual disability-facial dysmorphism-hand anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-facial dysmorphism-hand anomalies syndrome | |
| fr | Syndrome de déficience intellectuelle-dysmorphie faciale-anomalies des mains | |
| de | Intelligenzminderung-Gesichtsdysmorphien-Handanomalien-Syndrom | |
| es | Síndrome de discapacidad intelectual-dismorfia facial-anomalías en las manos | |
| it | Sindrome da disabilità intellettiva, dismorfismi facciali e anomalie delle mani | |
| nl | Intellectuele achterstand - faciale dysmorfie - handanomalieën-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial-anomalias das mãos | |
| pl | Zespół niepełnosprawność intelektualna-dysmorfia twarzy-wady dłoni | |
| cs | Syndrom zahrnující mentální retardaci, faciální dysmorfismus a anomálie rukou | |
| uk | Синдром інтелектуальної недостатності-дизморфізму обличчя-аномалій кистей рук | |
| zh | 智力障碍-面部畸形-手畸形综合征 | |
| tr | Zihinsel yetersizlik-yüz dismorfizm-el anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0018253 | E | validated | |
| UMLS | C4750848 | 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: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 | 3 cases | Worldwide | Case(s) | Validated | 23949889[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
34 annotations · validated 2019-11-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011822 | Broad chin | |
| HP:0000455 | Broad nasal tip | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0012745 | Short palpebral fissure | |
| HP:0001328 | Specific learning disability | |
| HP:0000219 | Thin upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0011939 | 3-4 finger cutaneous syndactyly | |
| HP:0001965 | Abnormality of the scalp | |
| HP:0009611 | Bifid distal phalanx of the thumb | |
| HP:0001156 | Brachydactyly | |
| HP:0011304 | Broad thumb | |
| HP:0004602 | Cervical C2/C3 vertebral fusion | |
| HP:0009644 | Curved distal phalanx of the thumb | |
| HP:0000273 | Facial grimacing | |
| HP:0001288 | Gait disturbance | |
| HP:0012553 | Hypoplastic thumbnail | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000252 | Microcephaly | |
| HP:0012713 | Moderate hearing impairment | |
| HP:0010492 | Osseous finger syndactyly | |
| HP:0025502 | Overweight | |
| HP:0002465 | Poor speech | |
| HP:0000403 | Recurrent otitis media | |
| HP:0010041 | Short 3rd metacarpal | |
| HP:0010047 | Short 5th metacarpal | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0009650 | Short distal phalanx of the thumb | |
| HP:0004322 | Short stature | |
| HP:0009778 | Short thumb | |
| HP:0001831 | Short toe | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0009648 | Triangular shaped distal phalanx of the thumb | |
| HP:0003484 | Upper limb muscle weakness | |
Annotation source: 23949889[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370010
- This record as JSON: /data/d/370010.json