MCID: LPD041
MIFTS: 18

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 58
Lipodystrophy-Intellectual Disability-Deafness Syndrome 60
Rajab-Spranger Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
lipodystrophy-intellectual disability-deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones:
Inheritance autosomal recessive inheritance


Classifications:



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 osteopenia and intellectual disability

Description 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:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000938
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
6 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
7 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
8 slender build 60 33 hallmark (90%) Very frequent (99-80%) HP:0001533
9 small for gestational age 60 33 hallmark (90%) Very frequent (99-80%) HP:0001518
10 progeroid facial appearance 60 33 hallmark (90%) Very frequent (99-80%) HP:0005328
11 generalized lipodystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009064
12 slender long bones with narrow diaphyses 60 33 hallmark (90%) Very frequent (99-80%) HP:0004993
13 dense metaphyseal bands 60 33 hallmark (90%) Very frequent (99-80%) HP:0100959
14 genu valgum 33 HP:0002857
15 seizures 33 HP:0001250
16 delayed skeletal maturation 33 HP:0002750
17 cubitus valgus 33 HP:0002967
18 deeply set eye 33 HP:0000490
19 hypoplasia of the maxilla 33 HP:0000327
20 long thorax 33 HP:0100818
21 sparse axillary hair 33 HP:0002215
22 short femoral neck 33 HP:0100864
23 sparse facial hair 33 HP:0007464
24 congenital generalized lipodystrophy 33 HP:0009059
25 metaphyseal striations 33 HP:0031367
26 disharmonious carpal bone 33 HP:0006153
27 abnormality of the rib cage 33 HP:0001547

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
mental retardation

Growth Height:
short stature

Chest External Features:
long thorax

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

Head And Neck Eyes:
deep-set eyes

Skeletal Pelvis:
short femoral necks

Skeletal Hands:
disharmonious carpal bone

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

Skeletal:
delayed bone age
progressive osteopenia

Growth Weight:
low birth weight
thin body habitus

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

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:

42
Bone, Eye, Skin

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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