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Amyoplasia

MedGen UID:
451058
Concept ID:
C0432185
Congenital Abnormality
Synonyms: Absent muscle; Absent muscles since birth; Aplasia of muscle; Congenital absence of muscles; Orbinsky syndrome
SNOMED CT: Aplasia of muscle (205532005); Orbinsky syndrome (205532005); Absent muscle (205532005)
 
HPO: HP:0003634

Definition

Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. [from HPO]

Conditions with this feature

Scapuloperoneal spinal muscular atrophy
MedGen UID:
148283
Concept ID:
C0751335
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
X-linked lethal multiple pterygium syndrome
MedGen UID:
374225
Concept ID:
C1839440
Disease or Syndrome
X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.
Lethal multiple pterygium syndrome
MedGen UID:
381473
Concept ID:
C1854678
Disease or Syndrome
Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.\n\nIn people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life.\n\nThe two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth.\n\nMultiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.

Professional guidelines

PubMed

Hamdy RC, van Bosse H, Altiok H, Abu-Dalu K, Kotlarsky P, Fafara A, Eidelman M
Am J Med Genet C Semin Med Genet 2019 Sep;181(3):372-384. Epub 2019 Sep 3 doi: 10.1002/ajmg.c.31734. PMID: 31479584
Song K
J Pediatr Orthop 2017 Sep;37 Suppl 2:S42-S47. doi: 10.1097/BPO.0000000000001030. PMID: 28799994
Lampasi M, Antonioli D, Donzelli O
Musculoskelet Surg 2012 Dec;96(3):161-9. Epub 2012 Aug 9 doi: 10.1007/s12306-012-0218-z. PMID: 22875688

Recent clinical studies

Therapy

Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, Bayhan IA, Boerwinkle E, Gibbs RA, Elcioglu N, Tuysuz B, Lupski JR
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Prognosis

Riepen D, Lachmann EE, Wahlig B, Thornberg DC, Rathjen KE
J Pediatr Orthop 2023 Oct 1;43(9):e751-e756. Epub 2023 Jul 27 doi: 10.1097/BPO.0000000000002483. PMID: 37503867
Lampasi M, Antonioli D, Donzelli O
Musculoskelet Surg 2012 Dec;96(3):161-9. Epub 2012 Aug 9 doi: 10.1007/s12306-012-0218-z. PMID: 22875688
Bernstein RM
J Am Acad Orthop Surg 2002 Nov-Dec;10(6):417-24. doi: 10.5435/00124635-200211000-00006. PMID: 12470044
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Brain Dev 1998 Oct;20(7):507-11. doi: 10.1016/s0387-7604(98)00037-0. PMID: 9840670
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Clinical prediction guides

Berger N, Forkl H, Heimkes B, Frimberger V, Wagner F, Hildebrand F, Delbrück H
J Orthop Surg Res 2024 Sep 28;19(1):595. doi: 10.1186/s13018-024-05101-3. PMID: 39342344Free PMC Article
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L
Genes (Basel) 2021 Dec 23;13(1) doi: 10.3390/genes13010029. PMID: 35052370Free PMC Article
Wall LB, Vuillerman C, Miller PE, Bae DS, Goldfarb CA; CoULD Study Group
J Pediatr Orthop 2020 Aug;40(7):357-360. doi: 10.1097/BPO.0000000000001527. PMID: 32040062
Foy CA, Mills J, Wheeler L, Ezaki M, Oishi SN
J Bone Joint Surg Am 2013 Oct 16;95(20):e150. doi: 10.2106/JBJS.L.01122. PMID: 24132365
Bernstein RM
J Am Acad Orthop Surg 2002 Nov-Dec;10(6):417-24. doi: 10.5435/00124635-200211000-00006. PMID: 12470044

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