ORPHA:2457
Mandibuloacral dysplasia
Synonyms: MAD
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mandibuloacral dysplasia | MAD |
| fr | Dysplasie mandibulo-acrale | |
| de | Dysplasie, mandibulo-akrale | = en |
| es | Displasia acromandibular | = en |
| it | Displasia mandiboloacrale | = en |
| nl | Mandibuloacrale dysplasie | = en |
| pt | Displasia mandíbulo-acral | = en |
| pl | Dysplazja żuchowo-obojczykowa | = en |
| cs | Mandibuloakrální dysplázie | = en |
| uk | Мандибулоакральна дисплазія | = en |
| zh | 下颌骨肢端发育异常 | = en |
| tr | Mandibuloakral displazi | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248370 | BTNT | validated | |
| OMIM | 608612 | BTNT | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD27.6Z | NTBT | index | validated |
| MONDO | 0016584 | E | validated | |
| UMLS | C0432291 | E | validated | |
| GARD | 11893 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:98305Genetic lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:93449Primary osteolysis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| LMNA | ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 12075506[PMID] |
| ZMPSTE24 | ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophy | Disease-causing germline mutation(s) in | Assessed | HGNC:12877 | ENSG00000084073 | 606480 | 1p34.2 | zinc metallopeptidase STE24 | 12913070[PMID]_18435794[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 24123119[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24123119[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.
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HPO phenotypes
34 annotations · validated 2017-05-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001000 | Abnormality of skin pigmentation | Diagnostic criterion |
| HP:0005781 | Contractures of the large joints | Diagnostic criterion |
| HP:0000293 | Full cheeks | |
| HP:0000218 | High palate | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0000468 | Increased adipose tissue around the neck | |
| HP:0000855 | Insulin resistance | |
| HP:0100578 | Lipoatrophy | Diagnostic criterion |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | |
| HP:0000347 | Micrognathia | Diagnostic criterion |
| HP:0000460 | Narrow nose | |
| HP:0000963 | Thin skin | |
| Frequent (79-30%) | ||
| HP:0030809 | Abnormal tongue morphology | |
| HP:0001090 | Abnormally large globe | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0001870 | Acroosteolysis of distal phalanges (feet) | Diagnostic criterion |
| HP:0001596 | Alopecia | |
| HP:0000270 | Delayed cranial suture closure | Diagnostic criterion |
| HP:0000678 | Dental crowding | |
| HP:0011334 | Facial shape deformation | |
| HP:0001952 | Glucose intolerance | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000685 | Hypoplasia of teeth | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0030781 | Increased circulating free fatty acid level | |
| HP:0008993 | Increased intraabdominal fat | |
| HP:0009003 | Increased subcutaneous truncal adipose tissue | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0003809 | Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) | |
| HP:0009839 | Osteolytic defects of the distal phalanges of the hand | Diagnostic criterion |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000894 | Short clavicles | Diagnostic criterion |
| HP:0008070 | Sparse hair | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 27710244[PMID]_12788894[PMID]_1951457[PMID]_1939519[PMID]_25629449[PMID]_12913070[PMID]_18796515[PMID]_11836320[PMID]_1939519[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2457
- This record as JSON: /data/d/2457.json