MCID: SKL027
MIFTS: 15

Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal

Categories: Bone diseases, Neuronal diseases

Aliases & Classifications for Skeletal Dysplasia and Progressive Central Nervous System...

MalaCards integrated aliases for Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal:

Name: Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in early infancy


HPO:

31
skeletal dysplasia and progressive central nervous system degeneration, lethal:
Onset and clinical course death in infancy diffuse
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Skeletal Dysplasia and Progressive Central Nervous System...

MalaCards based summary : Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal An important gene associated with Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include cerebellum, bone and brain, and related phenotypes are failure to thrive and short neck

More information from OMIM: 602613

Related Diseases for Skeletal Dysplasia and Progressive Central Nervous System...

Symptoms & Phenotypes for Skeletal Dysplasia and Progressive Central Nervous System...

Human phenotypes related to Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 short neck 31 HP:0000470
3 depressed nasal bridge 31 HP:0005280
4 inguinal hernia 31 HP:0000023
5 short nose 31 HP:0003196
6 anteverted nares 31 HP:0000463
7 flat face 31 HP:0012368
8 cryptorchidism 31 HP:0000028
9 micrognathia 31 HP:0000347
10 slender long bone 31 HP:0003100
11 brachydactyly 31 HP:0001156
12 polyhydramnios 31 HP:0001561
13 long philtrum 31 HP:0000343
14 proptosis 31 HP:0000520
15 apnea 31 HP:0002104
16 malar flattening 31 HP:0000272
17 cerebellar hypoplasia 31 HP:0001321
18 stenosis of the external auditory canal 31 HP:0000402
19 hypoplasia of the ulna 31 HP:0003022
20 cutis marmorata 31 HP:0000965
21 sparse hair 31 HP:0008070
22 central nervous system degeneration 31 HP:0007009
23 hypoplasia of the corpus callosum 31 HP:0002079
24 hypoplasia of the radius 31 HP:0002984
25 single transverse palmar crease 31 HP:0000954
26 cerebral atrophy 31 HP:0002059
27 rhizomelia 31 HP:0008905
28 thoracic hypoplasia 31 HP:0005257
29 meckel diverticulum 31 HP:0002245
30 lethal skeletal dysplasia 31 HP:0005716
31 hypoplastic pelvis 31 HP:0008839
32 neuronal loss in central nervous system 31 HP:0002529
33 patent foramen ovale 31 HP:0001655
34 gliosis 31 HP:0002171
35 ventricular hypertrophy 31 HP:0001714
36 long clavicles 31 HP:0000890
37 ulnar deviation of the hand or of fingers of the hand 31 HP:0001193
38 progressive ventriculomegaly 31 HP:0007100
39 ulnar deviation of the hand 31 HP:0009487
40 seizure 31 HP:0001250
41 proximal humeral metaphyseal irregularity 31 HP:0005043
42 prominent palmar flexion creases 31 HP:0006157
43 wafer-thin platyspondyly 31 HP:0008452

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Head And Neck Nose:
depressed nasal bridge
short, upturned nose

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Skin:
cutis marmorata
prominent palmar flexion creases
transverse palmar creases

Abdomen Gastrointestinal:
meckel diverticulum

Skeletal Pelvis:
hypoplastic pelvis
wide sacrosciatic notch
trident configuration of acetabular roof

Skeletal Spine:
wafer-thin platyspondyly

Head And Neck Ears:
stenotic external auditory canal

Chest External Features:
small chest

Head And Neck Neck:
short neck

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Face:
flat face
micrognathia
long philtrum

Skeletal Hands:
brachydactyly
prominent palmar flexion creases
transverse palmar creases
ulnar deviation of the hands

Respiratory:
apnea

Skin Nails Hair Hair:
sparse hair
fragile scalp hair

Neurologic Central Nervous System:
brain atrophy
gliosis
progressive ventriculomegaly
seizure
thin corpus callosum
more
Cardiovascular Heart:
patent foramen ovale
ventricular hypertrophy

Skeletal Limbs:
rhizomelic limb shortening
radial hypoplasia
ulnar hypoplasia
gracile long bones
irregular proximal humeral metaphyses

Head And Neck Eyes:
prominent eyes

Chest Ribs Sternum Clavicles And Scapulae:
elongated clavicles

Clinical features from OMIM®:

602613 (Updated 20-May-2021)

Drugs & Therapeutics for Skeletal Dysplasia and Progressive Central Nervous System...

Search Clinical Trials , NIH Clinical Center for Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal

Genetic Tests for Skeletal Dysplasia and Progressive Central Nervous System...

Anatomical Context for Skeletal Dysplasia and Progressive Central Nervous System...

MalaCards organs/tissues related to Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal:

40
Cerebellum, Bone, Brain

Publications for Skeletal Dysplasia and Progressive Central Nervous System...

Articles related to Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal:

# Title Authors PMID Year
1
Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration. 57
9557897 1998

Variations for Skeletal Dysplasia and Progressive Central Nervous System...

Expression for Skeletal Dysplasia and Progressive Central Nervous System...

Search GEO for disease gene expression data for Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal.

Pathways for Skeletal Dysplasia and Progressive Central Nervous System...

GO Terms for Skeletal Dysplasia and Progressive Central Nervous System...

Sources for Skeletal Dysplasia and Progressive Central Nervous System...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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