Lethal restrictive dermopathy

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERKERATOSIS-CONTRACTURE SYNDROME
TIGHT SKIN CONTRACTURE SYNDROME, LETHAL
FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY
Number of Symptoms 93
OrphanetNr: 1662
OMIM Id: 275210
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance:
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000073) Ureteral duplication 11 / 7739
2
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
3
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
4
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
5
 (HPO:0000653) Sparse eyelashes 58 / 7739
6
 (HPO:0000418) Narrow nasal ridge 15 / 7739
7
 (HPO:0004331) Decreased skull ossification 31 / 7739
8
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
9
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
10
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow 117 / 7739
11
 (HPO:0000453) Choanal atresia 76 / 7739
12
 (HPO:0000347) Micrognathia 426 / 7739
13
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
14
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
15
 (HPO:0000534) Abnormality of the eyebrow Frequent [Orphanet] 39 / 7739
16
 (HPO:0000175) Cleft palate 349 / 7739
17
 (HPO:0000316) Hypertelorism 644 / 7739
18
 (HPO:0000185) Cleft soft palate 18 / 7739
19
 (HPO:0005474) Decreased calvarial ossification 8 / 7739
20
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
21
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
22
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
23
 (HPO:0000176) Submucous cleft hard palate 19 / 7739
24
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
25
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
26
 (HPO:0000695) Natal tooth 42 / 7739
27
 (HPO:0000492) Abnormality of the eyelid Very frequent [Orphanet] 41 / 7739
28
 (HPO:0011819) Submucous cleft soft palate 12 / 7739
29
 (HPO:0000621) Entropion 12 / 7739
30
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
31
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
32
 (HPO:0000377) Abnormality of the pinna 111 / 7739
33
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
34
 (HPO:0000369) Low-set ears 372 / 7739
35
 (HPO:0000835) Adrenal hypoplasia 23 / 7739
36
 (HPO:0000834) Abnormality of the adrenal glands Frequent [Orphanet] 14 / 7739
37
 (HPO:0006391) Overtubulated long bones 1 / 7739
38
 (HPO:0001838) Rocker bottom foot 85 / 7739
39
 (HPO:0100670) Rough bone trabeculation Very frequent [Orphanet] 12 / 7739
40
 (HPO:0005253) Increased anterioposterior diameter of thorax 1 / 7739
41
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
42
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
43
 (HPO:0002751) Kyphoscoliosis 131 / 7739
44
 (HPO:0000940) Abnormal diaphysis morphology Frequent [Orphanet] 41 / 7739
45
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
46
 (HPO:0006645) Thin clavicles 4 / 7739
47
 (HPO:0000765) Abnormality of the thorax Frequent [Orphanet] 64 / 7739
48
 (HPO:0001371) Flexion contracture 220 / 7739
49
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
50
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
51
 (HPO:0006585) Congenital pseudoarthrosis of the clavicle 4 / 7739
52
 (HPO:0011414) Hydropic placenta 3 / 7739
53
 (HPO:0001788) Premature rupture of membranes 5 / 7739
54
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
55
 (HPO:0001196) Short umbilical cord 4 / 7739
56
 (HPO:0001622) Premature birth 100 / 7739
57
 (HPO:0001558) Decreased fetal movement 74 / 7739
58
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
59
 (HPO:0007394) Prominent superficial blood vessels 2 / 7739
60
 (HPO:0001799) Short nail 12 / 7739
61
 (HPO:0004540) Congenital, generalized hypertrichosis Frequent [Orphanet] 11 / 7739
62
 (HPO:0200041) Skin erosion 2 / 7739
63
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
64
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
65
 (HPO:0007543) Epidermal hyperkeratosis 2 / 7739
66
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
67
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 38 / 7739
68
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
69
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
70
 (HPO:0002616) Aortic root dilatation Occasional [Orphanet] 27 / 7739
71
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
72
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
73
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
74
 (OMIM) Tight, rigid skin 1 / 7739
75
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
76
 (HPO:0001425) Heterogeneous 132 / 7739
77
 (HPO:0003826) Stillbirth 40 / 7739
78
 (OMIM) Sparse/absent lanugo 1 / 7739
79
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
80
 (OMIM) Small, pinched nose 3 / 7739
81
 (MedDRA:10040849) Skin fissures 3 / 7739
82
 (OMIM) Dermis thinning 1 / 7739
83
 (OMIM) Widened suture 4 / 7739
84
 (OMIM) Expressionless facies 1 / 7739
85
 (OMIM) Long nails 1 / 7739
86
 (HPO:0012745) Short palpebral fissure 47 / 7739
87
 (OMIM) Ribbon-like ribs 3 / 7739
88
 (OMIM) Thin, dysplastic bipartite clavicles 1 / 7739
89
 (OMIM) Abnormal alignment of collagen bundles 1 / 7739
90
 (OMIM) Ankylosis of temporomandibular joint 1 / 7739
91
 (OMIM) Normal scalp hair 1 / 7739
92
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
93
 (OMIM) Absence of normal rete ridge pattern 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable at birth: thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs can ...
Clinical Description OMIM In 2 Hutterite sibships from different endogamous subdivisions ('leut,' or deme) and in a Mennonite kindred, Lowry et al. (1985) described a unique fatal disorder. The major manifestations were severe intrauterine growth retardation, congenital contractures, and tense skin ...
Molecular genetics OMIM In 2 of 9 fetuses with restrictive dermopathy, Navarro et al. (2004) identified heterozygous splicing mutations in the LMNA gene, resulting in the complete or partial loss of exon 11 (150330.0036 and 150330.0022, respectively). In the other 7 ...
Population genetics OMIM Li (2010) identified a homozygous mutation in the ZMPSTE24 gene (1085dupT; 606480.0001) in an infant girl with restrictive dermopathy. She was born of Mexican Mennonite parents who had immigrated to Canada. The mother reported several neonatal deaths in ...