Restrictive Dermopathy, Lethal malady

Genetic diseases, Rare diseases, Fetal diseases, Skin diseases categories

Aliases & Classifications for Restrictive Dermopathy, Lethal

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46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Restrictive Dermopathy, Lethal:

Name: Restrictive Dermopathy, Lethal 46 9 42
Tight Skin Contracture Syndrome, Lethal 42 22
Lethal Restrictive Dermopathy 42 48
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy 42
Lethal Tight Skin Contracture Syndrome 61
Hyperkeratosis-Contracture Syndrome 42


Characteristics (Orphanet epidemiological data):

lethal restrictive dermopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth

External Ids:

OMIM46 275210
Orphanet48 1662
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet62 C0406585

Summaries for Restrictive Dermopathy, Lethal

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OMIM:46 Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable... (275210) more...

MalaCards based summary: Restrictive Dermopathy, Lethal, also known as tight skin contracture syndrome, lethal, is related to lethal restrictive dermopathy, lmna-related and lethal restrictive dermopathy, zmpste24-related, and has symptoms including narrow mouth, abnormality of the teeth and open mouth. An important gene associated with Restrictive Dermopathy, Lethal is ZMPSTE24 (zinc metallopeptidase STE24), and among its related pathways is Adipogenesis. The compounds zinc and cholesterol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

Related Diseases for Restrictive Dermopathy, Lethal

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Graphical network of diseases related to Restrictive Dermopathy, Lethal:

Diseases related to restrictive dermopathy, lethal

Symptoms for Restrictive Dermopathy, Lethal

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 40)
  • large fontanelle/delayed fontanelle closure
  • micrognathia/retrognathia/micrognathism/retrognathism
  • ectropion/entropion/eyelid eversion
  • absent/decreased lashes
  • short/small nose
  • microstomia/little mouth
  • mouth held open
  • anomalies of teeth and dentition
  • external ear anomalies
  • low set ears/posteriorly rotated ears
  • thick skin/pachydermia/orange skin
  • tight skin/lack of elasticity
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • rough trabeculation of bone
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • early death/lethality
  • stillbirth/neonatal death
  • eyebrows anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • blepharophimosis/short palpebral fissures
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • anomalies of chest/thorax/trunk
  • clavicle absent/abnormal
  • kyphosis
  • scoliosis
  • complete claw hand/camptodactyly of all fingers
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • lanugo
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • bladder and ureter anomalies
  • hypospadias/epispadias/bent penis
  • adrenal glands anomalies
  • diaphyseal anomaly
  • polyhydramnios
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • aortic root dilatation/dilation/aneurysm

HPO human phenotypes related to Restrictive Dermopathy, Lethal:

(show all 74)
id Description Frequency HPO Source Accession
1 narrow mouth hallmark (90%) HP:0000160
2 abnormality of the teeth hallmark (90%) HP:0000164
3 open mouth hallmark (90%) HP:0000194
4 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
5 micrognathia hallmark (90%) HP:0000347
6 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
7 abnormality of the eyelashes hallmark (90%) HP:0000499
8 limitation of joint mobility hallmark (90%) HP:0001376
9 respiratory insufficiency hallmark (90%) HP:0002093
10 short nose hallmark (90%) HP:0003196
11 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
12 external ear malformation hallmark (90%) HP:0008572
13 rough bone trabeculation hallmark (90%) HP:0100670
14 lack of skin elasticity hallmark (90%) HP:0100679
15 cleft palate typical (50%) HP:0000175
16 abnormality of the eye typical (50%) HP:0000478
17 abnormality of the eyebrow typical (50%) HP:0000534
18 blepharophimosis typical (50%) HP:0000581
19 abnormality of the adrenal glands typical (50%) HP:0000834
20 abnormality of the clavicles typical (50%) HP:0000889
21 abnormal diaphysis morphology typical (50%) HP:0000940
22 hyperkeratosis typical (50%) HP:0000962
23 polyhydramnios typical (50%) HP:0001561
24 defect in the atrial septum typical (50%) HP:0001631
25 patent ductus arteriosus typical (50%) HP:0001643
26 scoliosis typical (50%) HP:0002650
27 kyphosis typical (50%) HP:0002808
28 congenital, generalized hypertrichosis typical (50%) HP:0004540
29 camptodactyly of finger typical (50%) HP:0100490
30 displacement of the external urethral meatus typical (50%) HP:0100627
31 situs inversus totalis occasional (7.5%) HP:0001696
32 dilatation of the ascending aorta occasional (7.5%) HP:0005111
33 autosomal recessive inheritance HP:0000007
34 hypospadias HP:0000047
35 ureteral duplication HP:0000073
36 narrow mouth HP:0000160
37 submucous cleft hard palate HP:0000176
38 large fontanelles HP:0000239
39 hypertelorism HP:0000316
40 micrognathia HP:0000347
41 low-set ears HP:0000369
42 abnormality of the pinna HP:0000377
43 narrow nasal ridge HP:0000418
44 choanal atresia HP:0000453
45 blepharophimosis HP:0000581
46 entropion HP:0000621
47 sparse eyelashes HP:0000653
48 natal tooth HP:0000695
49 adrenal hypoplasia HP:0000835
50 short umbilical cord HP:0001196
51 flexion contracture HP:0001371
52 heterogeneous HP:0001425
53 intrauterine growth retardation HP:0001511
54 decreased fetal movement HP:0001558
55 polyhydramnios HP:0001561
56 premature birth HP:0001622
57 defect in the atrial septum HP:0001631
58 patent ductus arteriosus HP:0001643
59 premature rupture of membranes HP:0001788
60 short nail HP:0001799
61 rocker bottom foot HP:0001838
62 pulmonary hypoplasia HP:0002089
63 kyphoscoliosis HP:0002751
64 increased anterioposterior diameter of thorax HP:0005253
65 decreased calvarial ossification HP:0005474
66 overtubulated long bones HP:0006391
67 congenital pseudarthrosis of the clavicle HP:0006585
68 thin clavicles HP:0006645
69 prominent superficial blood vessels HP:0007394
70 epidermal hyperkeratosis HP:0007543
71 hydropic placenta HP:0011414
72 short palpebral fissure HP:0012745
73 aplasia/hypoplasia of the eyebrow HP:0100840
74 skin erosion HP:0200041

Drugs & Therapeutics for Restrictive Dermopathy, Lethal

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Drug clinical trials:

Search ClinicalTrials for Restrictive Dermopathy, Lethal

Search NIH Clinical Center for Restrictive Dermopathy, Lethal

Genetic Tests for Restrictive Dermopathy, Lethal

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Genetic tests related to Restrictive Dermopathy, Lethal:

id Genetic test Affiliating Genes
1 Lethal Tight Skin Contracture Syndrome22

Anatomical Context for Restrictive Dermopathy, Lethal

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MalaCards organs/tissues related to Restrictive Dermopathy, Lethal:

Skin, Bone, Lung, Adrenal gland, Eye, Heart, Placenta

Animal Models for Restrictive Dermopathy, Lethal or affiliated genes

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MGI Mouse Phenotypes related to Restrictive Dermopathy, Lethal:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1ZMPSTE24, LMNA
2MP:00053758.8ZMPSTE24, LMNA

Publications for Restrictive Dermopathy, Lethal

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Variations for Restrictive Dermopathy, Lethal

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Clinvar genetic disease variations for Restrictive Dermopathy, Lethal:

id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.1824C> T (p.Gly608=)single nucleotide variantPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
2LMNALMNA, IVS11, G-A, +1single nucleotide variantPathogenic
3ZMPSTE24NM_005857.4(ZMPSTE24): c.54dupT (p.Ile19Tyrfs)duplicationPathogenicrs281875361GRCh37Chr 1, 40723997: 40723998
4ZMPSTE24NM_005857.4(ZMPSTE24): c.591dupT (p.Ile198Tyrfs)duplicationPathogenicrs281875367GRCh37Chr 1, 40735763: 40735764
5ZMPSTE24ZMPSTE24, 1-BP DEL, 50AdeletionPathogenic
6ZMPSTE24ZMPSTE24, 2-BP DEL, 584ATdeletionPathogenic
7ZMPSTE24NM_005857.4(ZMPSTE24): c.1085dupT (p.Leu362Phefs)duplicationPathogenicrs137854889GRCh37Chr 1, 40756551: 40756552
8ZMPSTE24NM_005857.4(ZMPSTE24): c.715G> T (p.Glu239Ter)single nucleotide variantPathogenicrs267607181GRCh37Chr 1, 40737653: 40737653

Expression for genes affiliated with Restrictive Dermopathy, Lethal

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Search GEO for disease gene expression data for Restrictive Dermopathy, Lethal.

Pathways for genes affiliated with Restrictive Dermopathy, Lethal

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Pathways related to Restrictive Dermopathy, Lethal according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes

Compounds for genes affiliated with Restrictive Dermopathy, Lethal

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Restrictive Dermopathy, Lethal according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1zinc44 2410.1ZMPSTE24, LMNA
2cholesterol44 28 24 1111.8ZMPSTE24, LMNA

GO Terms for genes affiliated with Restrictive Dermopathy, Lethal

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Sources for Restrictive Dermopathy, Lethal

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet