Microcephalic primordial dwarfism, Montreal type
historical
Synonyms: Bird-headed dwarfism, Montreal type
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephalic primordial dwarfism, Montreal type | Bird-headed dwarfism, Montreal type |
| fr | Nanisme microcéphalique primordial type Montréal | Nanisme à tête d'oiseau type Montréal |
| de | Kleinwuchs, mikrozephaler primordialer, Typ Montreal | Vogelkopf-Kleinwuchs Typ Montreal |
| es | Talla baja significativa primordial microcefálica tipo Montreal | Enanismo con cabeza de pájaro tipo Montreal · Enanismo primordial microcefálico tipo Montreal |
| it | Nanismo primitivo microcefalico tipo Montreal | |
| nl | Microcefale primordiale dwerggroei, Montreal-type | Vogelkopachtige dwerggroei, Montreal-type |
| pt | Nanismo microcefálico primordial, tipo Montreal | Nanismo "cabeça de pássaro", tipo Montreal |
| pl | Karłowatość pierwotna z małogłowiem typu Montreal | = en |
| cs | Trpaslictví s ptačí hlavou, montrealský typ | = en |
| uk | Мікроцефальний примордіальний нанізм, Монреальський тип | Птахоголова карликовість, монреальський тип |
| zh | 小头先天性侏儒症，Montreal型 | 鸟头侏儒症，Montreal型 |
| tr | Mikrosefalik primordiyal cücelik, Montreal tipi | Kuş-başlı cücelik, Montreal tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210700 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0008870 | E | validated | |
| MeSH | C535448 | E | validated | |
| UMLS | C1859468 | E | validated | |
| GARD | 895 | 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 (1):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; 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 | 5458566[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5458566[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0011362 | Abnormal hair quantity | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0002293 | Alopecia of scalp | |
| HP:0000670 | Carious teeth | |
| HP:0004399 | Congenital pyloric atresia | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000028 | Cryptorchidism | |
| HP:0000958 | Dry skin | |
| HP:0002353 | EEG abnormality | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0100578 | Lipoatrophy | |
| HP:0002162 | Low posterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0010807 | Open bite | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002216 | Premature graying of hair | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0000508 | Ptosis | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002650 | Scoliosis | |
| HP:0003510 | Severe short stature | |
| HP:0009721 | Shagreen patch | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0006610 | Wide intermamillary distance | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2617
- This record as JSON: /data/d/2617.json