Mandibular hypoplasia-deafness-progeroid syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MDPL
MDP syndrome
Number of Symptoms 31
OrphanetNr: 363649
OMIM Id: 615381
ICD-10: E34.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic progeroid syndrome
 -Rare genetic disease
Premature aging
 -Rare genetic disease
 -Rare skin disease
Progeroid syndrome
 -Rare developmental defect during embryogenesis
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000135) Hypogonadism 89 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000520) Proptosis 192 / 7739
5
 (HPO:0000678) Dental crowding 65 / 7739
6
 (HPO:0000160) Narrow mouth 188 / 7739
7
 (HPO:0000444) Convex nasal ridge 87 / 7739
8
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
9
 (HPO:0000819) Diabetes mellitus 131 / 7739
10
 (HPO:0002650) Scoliosis 705 / 7739
11
 (HPO:0002808) Kyphosis 289 / 7739
12
 (HPO:0001371) Flexion contracture 220 / 7739
13
 (HPO:0000939) Osteoporosis 129 / 7739
14
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
15
 (HPO:0002240) Hepatomegaly 467 / 7739
16
 (HPO:0001397) Hepatic steatosis 75 / 7739
17
 (HPO:0004334) Dermal atrophy 34 / 7739
18
 (HPO:0100679) Lack of skin elasticity 29 / 7739
19
 (HPO:0001009) Telangiectasia 46 / 7739
20
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
21
 (HPO:0000855) Insulin resistance 32 / 7739
22
 (HPO:0001620) High pitched voice 32 / 7739
23
 (HPO:0009125) Lipodystrophy 54 / 7739
24
 (OMIM) Birth weight normal 14 / 7739
25
 (OMIM) Increased visceral fat 1 / 7739
26
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
27
 (OMIM) Progeroid appearance 3 / 7739
28
 (OMIM) Loss of subcutaneous fat, generalized 2 / 7739
29
 (OMIM) Scleroderma-like changes 2 / 7739
30
 (OMIM) Loss of subcutaneous fat, particularly affecting the limbs 1 / 7739
31
 (OMIM) Poor breast development (in women) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs ...
Clinical Description OMIM Shastry et al. (2010) reported 7 unrelated patients with a novel syndrome characterized by mandibular hypoplasia, deafness, progeroid features, and lipodystrophy. The patients presented in early childhood with poor growth and thin limbs due to loss of subcutaneous ...
Molecular genetics OMIM In 4 unrelated patients with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Weedon et al. (2013) identified a de novo heterozygous in-frame deletion of residue ser605 in the polymerase active site of the POLD1 gene (174761.0003). The ...