MCID: LPD041
MIFTS: 17

Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones

Categories: Bone diseases, Ear diseases, Endocrine diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

MalaCards integrated aliases for Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones:

Name: Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 56
Lipodystrophy-Intellectual Disability-Deafness Syndrome 58
Rajab-Spranger Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
lipodystrophy-intellectual disability-deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

MalaCards based summary : Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones, is also known as lipodystrophy-intellectual disability-deafness syndrome. Affiliated tissues include bone, eye and skin, and related phenotypes are intellectual disability and failure to thrive

More information from OMIM: 608154

Related Diseases for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Symptoms & Phenotypes for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Human phenotypes related to Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
8 slender build 58 31 hallmark (90%) Very frequent (99-80%) HP:0001533
9 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001518
10 slender long bones with narrow diaphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0004993
11 progeroid facial appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0005328
12 generalized lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009064
13 dense metaphyseal bands 58 31 hallmark (90%) Very frequent (99-80%) HP:0100959
14 genu valgum 31 HP:0002857
15 seizures 31 HP:0001250
16 delayed skeletal maturation 31 HP:0002750
17 cubitus valgus 31 HP:0002967
18 deeply set eye 31 HP:0000490
19 hypoplasia of the maxilla 31 HP:0000327
20 long thorax 31 HP:0100818
21 sparse axillary hair 31 HP:0002215
22 short femoral neck 31 HP:0100864
23 sparse facial hair 31 HP:0007464
24 congenital generalized lipodystrophy 31 HP:0009059
25 abnormality of the rib cage 31 HP:0001547
26 metaphyseal striations 31 HP:0031367
27 disharmonious carpal bone 31 HP:0006153

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
mental retardation

Growth Height:
short stature

Chest External Features:
long thorax

Skeletal Hands:
disharmonious carpal bone

Skeletal:
delayed bone age
progressive osteopenia

Growth Weight:
low birth weight
thin body habitus

Head And Neck Ears:
sensorineural hearing loss (onset early childhood)

Growth Other:
failure to thrive
intrauterine growth retardation

Skeletal Limbs:
cubitus valgus
slender long bones with narrow diaphyses
genua valgum
thin limbs with prominent joints
dense longitudinal metaphyseal striations (distal femur, radius, and ulna)

Muscle Soft Tissue:
congenital generalized lipodystrophy

Head And Neck Face:
maxillary hypoplasia
progeroid facial appearance (onset childhood)

Head And Neck Eyes:
deep-set eyes

Skeletal Pelvis:
short femoral necks

Skin Nails Hair Skin:
sparse axillary and facial hair

Clinical features from OMIM:

608154

Drugs & Therapeutics for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones

Genetic Tests for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Anatomical Context for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

MalaCards organs/tissues related to Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones:

40
Bone, Eye, Skin

Publications for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Articles related to Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones:

# Title Authors PMID Year
1
Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome? 56
12923870 2003

Variations for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Expression for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Search GEO for disease gene expression data for Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones.

Pathways for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

GO Terms for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

Sources for Lipodystrophy, Generalized, with Mental Retardation, Deafness,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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