Cutaneous mastocytosis-deafness-microtia syndrome
Synonyms: Cutaneous mastocytosis-hearing loss-microtia syndrome · Mastocytosis-short stature-deafness syndrome · Mastocytosis-short stature-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cutaneous mastocytosis-deafness-microtia syndrome | Cutaneous mastocytosis-hearing loss-microtia syndrome · Mastocytosis-short stature-deafness syndrome · Mastocytosis-short stature-hearing loss syndrome |
| fr | Mastocytose cutanée-surdité-microtia syndrome | Syndrome de mastocytose-petite taille-surdité |
| de | Kutane Mastozytose-Schwerhörigkeit-Mikrotie-Syndrom | Hennekam-Beemer-Syndrom · Kutane Mastozytose-Hörverlust-Mikrotie-Syndrom · Mastozytose-Kleinwuchs-Taubheit-Syndrom |
| es | Síndrome de mastocitosis cutánea-sordera-microtia | Síndrome de mastocitosis cutánea-hipoacusia-microtia · Síndrome de mastocitosis-talla baja-hipoacusia · Síndrome de mastocitosis-talla baja-sordera |
| it | Sindrome mastocitosi cutanea-sordità-microtia | Mastocitosi - bassa statura - sordità · Sindrome mastocitosi-bassa statura-sordità |
| nl | Cutane mastocytose - doofheid - microtie-syndroom | Cutane mastocytose - gehoorverlies - microtie-syndroom · Mastocytose - kleine gestalte - doofheid-syndroom · Mastocytose - kleine gestalte - gehoorverlies-syndroom |
| pt | Síndrome Hennekam-Beemer | Mastocitose-baixa estatura-surdez |
| pl | Zespół mastycytozy skórnej, niedosłuchu i mikrocji | Mastocytoza - niski wzrost - utrata słuchu |
| cs | Hennekamův-Beemerův syndrom | Syndrom zahrnující mastocytózu, malý vzrůst a ztrátu sluchu · Hennekam-Beemerův syndrom |
| uk | Синдром Хеннекама-Бімера | Синдром мастоцитозу-низького зросту-глухоти · Синдром мастоцитозу-низького зросту-втрати слуху |
| zh | Hennekam-Beemer综合征 | 肥大细胞增生症-身材矮小-听觉丧失综合征 |
| tr | Hennekam-Beemer sendromu | Mastositoz-kısa boy-sağırlık sendromu · Mastositoz-kısa boy-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248910 | E | validated | |
| ICD-10 | Q82.2 | NTBT | attributed | validated |
| MONDO | 0009569 | E | validated | |
| UMLS | C4302582 | E | validated | |
| GARD | 3409 | 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 | 19764024[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19764024[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
52 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0001284 | Areflexia | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0010783 | Erythema | |
| HP:0001508 | Failure to thrive | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0012733 | Macule | |
| HP:0100495 | Mastocytosis | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0000648 | Optic atrophy | |
| HP:0200034 | Papule | |
| HP:0000520 | Proptosis | |
| HP:0000989 | Pruritus | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0000325 | Triangular face | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001025 | Urticaria | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0011675 | Arrhythmia | |
| HP:0012378 | Fatigue | |
| HP:0002615 | Hypotension | |
| HP:0100326 | Immunologic hypersensitivity | |
| HP:0001249 | Intellectual disability | |
| HP:0000737 | Irritability | |
| HP:0100725 | Lichenification | |
| HP:0003189 | Long nose | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0002090 | Pneumonia | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0011344 | Severe global developmental delay | |
| HP:0200037 | Skin vesicle | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0001072 | Thickened skin | |
| HP:0002013 | Vomiting | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2135
- This record as JSON: /data/d/2135.json