MCID: SKL027
MIFTS: 16

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 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
death in early infancy


HPO:

33
skeletal dysplasia and progressive central nervous system degeneration, lethal:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course diffuse


Classifications:



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

MalaCards based summary : Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal Affiliated tissues include bone, brain and eye, and related phenotypes are malar flattening and short neck

Description 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:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Growth Other:
failure to thrive

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

Head And Neck Face:
long philtrum
micrognathia
flat face

Respiratory:
apnea

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Hair:
sparse hair
fragile scalp hair

Abdomen Gastrointestinal:
meckel diverticulum

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

Neurologic Central Nervous System:
brain atrophy
gliosis
progressive ventriculomegaly
seizure
thin corpus callosum
more
Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

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

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

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

Cardiovascular Heart:
patent foramen ovale
ventricular hypertrophy

Head And Neck Ears:
stenotic external auditory canal

Chest External Features:
small chest

Skeletal Spine:
wafer-thin platyspondyly

Clinical features from OMIM:

602613

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:

42
Bone, Brain, Eye, Cerebellum

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

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
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
51 NCIt
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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