Ehlers-Danlos syndrome, kyphoscoliotic and deafness type

General Information (adopted from Orphanet):

Synonyms, Signs: EDSKMH
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness
EDS, kyphoscoliotic and hearing loss type
EDS with progressive kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
EDS with progressive kyphoscoliosis, myopathy, and hearing loss
Number of Symptoms 51
OrphanetNr: 300179
OMIM Id: 614557
ICD-10: Q79.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ehlers-Danlos syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000015) Bladder diverticulum rare [HPO:skoehler] 15 / 7739
2
 (HPO:0000185) Cleft soft palate rare [HPO:skoehler] 18 / 7739
3
 (HPO:0000545) Myopia hallmark [HPO:skoehler] 286 / 7739
4
 (HPO:0001757) High-frequency sensorineural hearing impairment 7 / 7739
5
 (HPO:0001270) Motor delay 322 / 7739
6
 (HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739
7
 (HPO:0001763) Pes planus 176 / 7739
8
 (HPO:0000938) Osteopenia 138 / 7739
9
 (HPO:0002751) Kyphoscoliosis 131 / 7739
10
 (HPO:0001558) Decreased fetal movement 74 / 7739
11
 (HPO:0000023) Inguinal hernia rare [HPO:skoehler] 181 / 7739
12
 (HPO:0001539) Omphalocele 102 / 7739
13
 (HPO:0001537) Umbilical hernia rare [HPO:skoehler] 206 / 7739
14
 (HPO:0000977) Soft skin 23 / 7739
15
 (HPO:0007502) Follicular hyperkeratosis 12 / 7739
16
 (HPO:0000978) Bruising susceptibility rare [HPO:skoehler] 123 / 7739
17
 (HPO:0000974) Hyperextensible skin 59 / 7739
18
 (HPO:0001643) Patent ductus arteriosus rare [HPO:skoehler] 228 / 7739
19
 (HPO:0003198) Myopathy 151 / 7739
20
 (HPO:0001252) Muscular hypotonia 990 / 7739
21
 (HPO:0002421) Poor head control 23 / 7739
22
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
23
 (OMIM) Endoplasmic reticulum cisterns dilated and filled with flocculent material in skin fibroblasts 1 / 7739
24
 (MedDRA:10060874) Aortic rupture 1 / 7739
25
 (OMIM) Severe muscle hypotonia at birth 1 / 7739
26
 (OMIM) Restrictive ventilation disorder due to severe scoliosis (in some patients) 1 / 7739
27
 (OMIM) Kyphoscoliosis, progressive 3 / 7739
28
 (OMIM) Poor head control in infancy 1 / 7739
29
 (OMIM) Myopathy, mild to severe 1 / 7739
30
 (OMIM) Dislocations, recurrent (rare) 1 / 7739
31
 (OMIM) Proliferation of fatty tissue in muscle (in some patients) 1 / 7739
32
 (OMIM) Collagen fibrils normal in shape and diameter 1 / 7739
33
 (OMIM) Bluish sclerae in infancy (rare) 1 / 7739
34
 (MedDRA:10017322) Fractures 18 / 7739
35
 (OMIM) Hypermobility of large joints 1 / 7739
36
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
 (OMIM) Muscle fiber atrophy, profound (rare) 1 / 7739
38
 (OMIM) Muscular weakness, improving in infancy (Medical Research Council muscle score of 3 to 4) 1 / 7739
39
 (OMIM) Hypertrophic scarring 2 / 7739
40
 (OMIM) Insufficiency of tricuspid valve (in some patients) 1 / 7739
41
 (OMIM) Plantar softness 1 / 7739
42
 (OMIM) High-frequency sensorineural hearing loss 1 / 7739
43
 (HPO:0003812) Phenotypic variability 129 / 7739
44
 (MedDRA:10017076) Fracture 18 / 7739
45
 (OMIM) Osteopenia, mild to moderate 1 / 7739
46
 (OMIM) Increased variation in muscle fiber diameter 1 / 7739
47
 (OMIM) Hypermobility of small joints 3 / 7739
48
 (OMIM) Walking independently at 2.5 years to 4 years of age 1 / 7739
49
 (OMIM) Electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood Normal pyridinoline excretion in urine 1 / 7739
50
 (OMIM) Hypermobility of large and small joints (Beighton score ranging from 6/9 to 9/9) 1 / 7739
51
 (OMIM) Insufficiency of mitral valve (rare) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This autosomal recessive form of Ehlers-Danlos syndrome is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine. The disorder shares many features with the ...
Clinical Description OMIM Baumann et al. (2012) reported a 16-year-old Austrian boy who was born with severe muscle hypotonia, paucity of antigravity movements, poor sucking, hypermobile joints, and slightly bluish sclerae. At 2 months of age, the first signs of spinal ...
Molecular genetics OMIM In 2 affected individuals from an Austrian family with Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, Baumann et al. (2012) sequenced the candidate gene FKBP14 (614505) and identified homozygosity for a 1-bp insertion (614505.0001). Analysis of ...