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Ehlers-Danlos syndrome, type vii, autosomal recessive(EDS7C)

MedGen UID:
397792
Concept ID:
C2700425
Disease or Syndrome
Synonyms: Dermatosparaxis; EDS VIIC; EDS7C; Ehlers-Danlos syndrome dermatosparaxis type; Ehlers-Danlos syndrome type 7C (formerly); Ehlers-Danlos Syndrome Type VIIC
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Dermatosparaxis (55711009)
 
Gene (location): ADAMTS2 (5q35.3)
OMIM®: 225410
Orphanet: ORPHA1901

Definition

Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle (Lapiere et al., 1971). Lapiere and Nusgens (1993) reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human. Beighton et al. (1998) reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.' [from OMIM]

Additional description

From GHR
Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.Previously, there were more than 10 recognized types of Ehlers-Danlos syndrome, differentiated by Roman numerals. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the classical type (formerly types I and II), the hypermobility type (formerly type III), the vascular type (formerly type IV), the kyphoscoliosis type (formerly type VIA), the arthrochalasia type (formerly types VIIA and VIIB), and the dermatosparaxis type (formerly type VIIC). This six-type classification, known as the Villefranche nomenclature, is still commonly used. The types are distinguished by their signs and symptoms, their underlying genetic causes, and their patterns of inheritance. Since 1997, several additional forms of the condition have been described. These additional forms appear to be rare, affecting a small number of families, and most have not been well characterized.Although all types of Ehlers-Danlos syndrome affect the joints and skin, additional features vary by type. An unusually large range of joint movement (hypermobility) occurs with most forms of Ehlers-Danlos syndrome, particularly the hypermobility type. Infants with hypermobile joints often have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. Hypermobility and dislocations of both hips at birth are characteristic features in infants with the arthrochalasia type of Ehlers-Danlos syndrome.Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by skin that sags and wrinkles. Extra (redundant) folds of skin may be present as affected children get older.Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliosis and classical types, can involve serious and potentially life-threatening complications due to unpredictable tearing (rupture) of blood vessels. This rupture can cause internal bleeding, stroke, and shock. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing.  https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

Clinical features

Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Congenital Abnormality
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
No development of motor milestones
MedGen UID:
892432
Concept ID:
C4020874
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Spontaneous neonatal pneumothorax
MedGen UID:
384036
Concept ID:
C1857021
Finding
Pneumothorax occurring neonatally without traumatic injury to the chest or lung.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Blepharochalasis
MedGen UID:
506398
Concept ID:
CN009575
Finding
Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Congenital Abnormality
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Recurrent mandibular subluxations
MedGen UID:
341673
Concept ID:
C1857011
Finding
Recurrent partial dislocations of the mandible.
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Abnormality of the hip bone
MedGen UID:
867370
Concept ID:
C4021735
Anatomical Abnormality
An abnormality of the hip bone.
Joint dislocation
MedGen UID:
504818
Concept ID:
CN001258
Finding
Displacement or malalignment of joints.
Joint laxity
MedGen UID:
504825
Concept ID:
CN001270
Finding
Lack of stability of a joint.
Delayed closure of the anterior fontanelle
MedGen UID:
425058
Concept ID:
CN001352
Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Partial congenital absence of teeth
MedGen UID:
43794
Concept ID:
C0020608
Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906); and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Thick vermilion border
MedGen UID:
332232
Concept ID:
C1836543
Finding
Increased width of the \
Everted lower lip vermilion
MedGen UID:
344003
Concept ID:
C1853246
Finding
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Recurrent mandibular subluxations
MedGen UID:
341673
Concept ID:
C1857011
Finding
Recurrent partial dislocations of the mandible.
Frontal open bite
MedGen UID:
346491
Concept ID:
C1857012
Finding
Hypoplastic mandible condyle
MedGen UID:
347379
Concept ID:
C1857130
Anatomical Abnormality
Developmental hypoplasia of the mandible.
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Delayed closure of the anterior fontanelle
MedGen UID:
425058
Concept ID:
CN001352
Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Abnormality of primary molar morphology
MedGen UID:
505904
Concept ID:
CN005528
Finding
An abnormality of morphology of primary molar.
Blepharochalasis
MedGen UID:
506398
Concept ID:
CN009575
Finding
Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Atypical scarring of skin
MedGen UID:
867415
Concept ID:
C4021786
Pathologic Function
Atypically scarred skin .
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Finding
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Hyperextensible skin
MedGen UID:
66023
Concept ID:
C0241074
Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Fragile skin
MedGen UID:
66826
Concept ID:
C0241181
Finding
Skin that splits easily with minimal injury.
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Redundant skin
MedGen UID:
154379
Concept ID:
C0581342
Pathologic Function
Loose and sagging skin often associated with loss of skin elasticity.
Poor wound healing
MedGen UID:
377525
Concept ID:
C1851789
Finding
A reduced ability to heal cutaneous wounds.
Gingival hyperkeratosis
MedGen UID:
384034
Concept ID:
C1857013
Disease or Syndrome
Hyperkeratosis of the gingiva.
Atypical scarring of skin
MedGen UID:
867415
Concept ID:
C4021786
Pathologic Function
Atypically scarred skin .
Premature rupture of membranes
MedGen UID:
8826
Concept ID:
C0015944
Pathologic Function
Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Finding
The birth of a baby of less than 37 weeks of gestational age.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Ehlers-Danlos syndrome, type vii, autosomal recessive in Orphanet.

Professional guidelines

PubMed

Mayer K, Kennerknecht I, Steinmann B
Eur J Hum Genet 2010 Sep;18(9) Epub 2010 Feb 10 doi: 10.1038/ejhg.2009.227. PMID: 20145674Free PMC Article

Recent clinical studies

Diagnosis

Solomons J, Coucke P, Symoens S, Cohen MC, Pope FM, Wagner BE, Sobey G, Black R, Cilliers D
Am J Med Genet A 2013 May;161A(5):1122-5. Epub 2013 Mar 13 doi: 10.1002/ajmg.a.35802. PMID: 23495203

Therapy

Solomons J, Coucke P, Symoens S, Cohen MC, Pope FM, Wagner BE, Sobey G, Black R, Cilliers D
Am J Med Genet A 2013 May;161A(5):1122-5. Epub 2013 Mar 13 doi: 10.1002/ajmg.a.35802. PMID: 23495203

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