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Ehlers-Danlos syndrome, arthrochalasis type(EDSARTH1)

MedGen UID:: 1645042
•Concept ID:: C4551623
•: Disease or Syndrome

Synonyms:	Arthrochalasis multiplex congenita; EDS VII, MUTANT PROCOLLAGEN TYPE; EDS VIIA; EDS7A (formerly); EDS7B (formerly); EDSARTH1; Ehlers-Danlos syndrome arthrochalasia type; Ehlers-Danlos syndrome type 7A (formerly); Ehlers-Danlos syndrome type 7B (formerly); Ehlers-Danlos syndrome, arthrochalasia type, 1; PROALBUMIN CHRISTCHURCH
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	COL1A1 (17q21.33)
Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	ADAMTS2

Monarch Initiative:	MONDO:0007525
OMIM®:	130060
Orphanet:	ORPHA1899

Definition

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). Genetic Heterogeneity of Arthrochalasia-type Ehlers-Danlos Syndrome See EDSARTH2 (617821), caused by mutation in the COL1A2 gene (120160). [from OMIM]

Clinical features

From HPO

Mild short stature

MedGen UID:: 461427
•Concept ID:: C3150077
•: Finding

A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.

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Delayed gross motor development

MedGen UID:: 332508
•Concept ID:: C1837658
•: Finding

A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.

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Kyphosis

MedGen UID:: 44042
•Concept ID:: C0022821
•: Anatomical Abnormality

Exaggerated anterior convexity of the thoracic vertebral column.

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Hypotonia

MedGen UID:: 10133
•Concept ID:: C0026827
•: Finding

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

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Osteopenia

MedGen UID:: 18222
•Concept ID:: C0029453
•: Disease or Syndrome

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.

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Scoliosis

MedGen UID:: 11348
•Concept ID:: C0036439
•: Disease or Syndrome

The presence of an abnormal lateral curvature of the spine.

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Joint laxity

MedGen UID:: 39439
•Concept ID:: C0086437
•: Finding

Lack of stability of a joint.

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Congenital bilateral hip dislocation

MedGen UID:: 57642
•Concept ID:: C0158713
•: Congenital Abnormality

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Joint subluxation

MedGen UID:: 83065
•Concept ID:: C0332768
•: Injury or Poisoning

A partial dislocation of a joint.

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Increased susceptibility to fractures

MedGen UID:: 234655
•Concept ID:: C1390474
•: Finding

An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.

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Premature osteoarthritis

MedGen UID:: 371977
•Concept ID:: C1835121
•: Disease or Syndrome

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Malar flattening

MedGen UID:: 347616
•Concept ID:: C1858085
•: Finding

Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

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Generalized hypotonia

MedGen UID:: 346841
•Concept ID:: C1858120
•: Finding

Generalized muscular hypotonia (abnormally low muscle tone).

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Midface retrusion

MedGen UID:: 339938
•Concept ID:: C1853242
•: Anatomical Abnormality

Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.

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Atrophic scars

MedGen UID:: 57875
•Concept ID:: C0162154
•: Pathologic Function

Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.

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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.

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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.

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Soft skin

MedGen UID:: 336730
•Concept ID:: C1844592
•: Finding

Subjective impression of increased softness upon palpation of the skin.

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Poor wound healing

MedGen UID:: 377525
•Concept ID:: C1851789
•: Finding

A reduced ability to heal cutaneous wounds.

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Breech presentation

MedGen UID:: 654
•Concept ID:: C0006157
•: Pathologic Function

A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.

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Abnormality of head or neck
- Midface retrusion
Abnormality of prenatal development or birth
- Breech presentation
Abnormality of the integument
Abnormality of the musculoskeletal system
Abnormality of the nervous system
- Delayed gross motor development
Growth abnormality
- Mild short stature

Term Hierarchy

GTR
MeSH

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Ehlers-Danlos syndrome
      - Ehlers-Danlos syndrome, arthrochalasis type
        Ehlers-Danlos syndrome type 7A
        Ehlers-Danlos syndrome type 7B
        Ehlers-Danlos syndrome, dermatosparaxis type

Professional guidelines

Curated

Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII.

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: 20145674 Free PMC Article

Recent clinical studies

Etiology

Bone Disease in Patients with Ehlers-Danlos Syndromes.

Basalom S, Rauch F
Curr Osteoporos Rep 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5. PMID: 32162201

See all (1)

Diagnosis

Bone Disease in Patients with Ehlers-Danlos Syndromes.

Basalom S, Rauch F
Curr Osteoporos Rep 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5. PMID: 32162201

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M
Am J Med Genet A 2017 Jan;173(1):169-176. Epub 2016 Oct 14 doi: 10.1002/ajmg.a.38004. PMID: 27739212

See all (2)