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Mandibuloacral dysplasia with type B lipodystrophy
1 OMIM reference -
1 associated gene
9 connected diseases
25 signs/symptoms
Disease Type of connection
Hutchinson-Gilford progeria syndrome
Lethal restrictive dermopathy
Familial isolated dilated cardiomyopathy
Muscular dystrophy, Selcen type
DDOST-CDG
Autosomal dominant Emery-Dreifuss muscular dystrophy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C535706
Gene symbol UniProt reference OMIM reference
ZMPSTE24 O75844606480
Very frequent
- Anomalies of bones / skeletal anomalies
- Clavicle absent / abnormal
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Microstomia / little mouth
- Osteolysis / osteoclasia / bone destruction / erosions
- Terminal / third phalangeal bone of fingers hypoplasia
- Thin skin

Frequent
- Abnormal fat distribution / lipodystrophy
- Abnormal scarring / cheloids / hypertrophic scars
- Anomalies of teeth and dentition
- Beaked nose
- Hair and scalp anomalies
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Insulin resistance
- Irregular / in bands / reticular skin hyperpigmentation
- Nails anomalies
- Periarticular tissue anomaly / extraarticular calcifications
- Premature ageing
- Proptosis / exophthalmos
- Short stature / dwarfism / nanism
- Short / small nose
- Skin hypoplasia / aplasia / atrophy

Occasional
- Late puberty / hypogonadism / hypogenitalism