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Axillary pterygium

MedGen UID:
Concept ID:
Synonym: Axillary pterygia
HPO: HP:0001060


Presence of a cutaneous membrane (flap) in the armpit. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAxillary pterygium

Conditions with this feature

Craniofrontonasal syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004).
Autosomal recessive multiple pterygium syndrome
MedGen UID:
Concept ID:
Congenital Abnormality
Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.
Bartsocas-Papas syndrome 1
MedGen UID:
Concept ID:
Disease or Syndrome
Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). Genetic Heterogeneity of Bartsocas-Papas Syndrome Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664). A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).
Autosomal recessive omodysplasia
MedGen UID:
Concept ID:
Disease or Syndrome
Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of Omodysplasia Also see omodysplasia-2 (OMOD2; 164745), an autosomal dominant form of the disorder in which abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).
Lethal congenital contracture syndrome 9
MedGen UID:
Concept ID:
Disease or Syndrome
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.
Bartsocas-Papas syndrome 2
MedGen UID:
Concept ID:
Disease or Syndrome
Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by Leslie et al., 2015).
Junctional epidermolysis bullosa with pyloric atresia
MedGen UID:
Concept ID:
Disease or Syndrome
Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy.

Recent clinical studies


Mendo TDS, Almeida T, Maria AT, Tuna ML
BMJ Case Rep 2021 Mar 22;14(3) doi: 10.1136/bcr-2020-241395. PMID: 33753394Free PMC Article
Serra G, Antona V, Corsello G, Zara F, Piro E, Falsaperla R
Ital J Pediatr 2019 Nov 8;45(1):138. doi: 10.1186/s13052-019-0718-7. PMID: 31703719Free PMC Article
Chen H, Immken L, Lachman R, Yang S, Rimoin DL, Rightmire D, Eteson D, Stewart F, Beemer FA, Opitz JM
Am J Med Genet 1984 Apr;17(4):809-26. doi: 10.1002/ajmg.1320170411. PMID: 6720746
Chen H, Chang CH, Misra RP, Peters HA, Grijalva NS, Opitz JM
Am J Med Genet 1980;7(2):91-102. doi: 10.1002/ajmg.1320070203. PMID: 7468651
Escobar V, Bixler D, Gleiser S, Weaver DD, Gibbs T
Am J Dis Child 1978 Jun;132(6):609-11. doi: 10.1001/archpedi.1978.02120310073016. PMID: 655146


Griffith CB, Vance GH, Weaver DD
Am J Med Genet A 2009 Jun;149A(6):1346-58. doi: 10.1002/ajmg.a.32883. PMID: 19449431

Clinical prediction guides

Serra G, Antona V, Corsello G, Zara F, Piro E, Falsaperla R
Ital J Pediatr 2019 Nov 8;45(1):138. doi: 10.1186/s13052-019-0718-7. PMID: 31703719Free PMC Article

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