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Polydactyly, postaxial, type A6(PAPA6)

MedGen UID:: 815219
•Concept ID:: C3808889
•: Disease or Syndrome

Synonyms:	PAPA6; POLYDACTYLY, POSTAXIAL, TYPE A6

Gene (location): Gene(s) directly associated with this condition or phenotype.	ZNF141 (4p16.3)

Monarch Initiative:	MONDO:0014090
OMIM®:	615226

Clinical features

From HPO

Postaxial hand polydactyly

MedGen UID:: 609221
•Concept ID:: C0431904
•: Congenital Abnormality

Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).

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Postaxial foot polydactyly

MedGen UID:: 384489
•Concept ID:: C2112129
•: Finding

Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.

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Broad phalanges of the 5th finger

MedGen UID:: 869981
•Concept ID:: C4024412
•: Anatomical Abnormality

Increased width of the phalanges of the 5th finger.

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Abnormal dental morphology

MedGen UID:: 11849
•Concept ID:: C0040427
•: Anatomical Abnormality

An abnormality of the morphology of the tooth.

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Abnormal sweat gland morphology

MedGen UID:: 892310
•Concept ID:: C0262643
•: Anatomical Abnormality

Any structural abnormality of the sweat gland.

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Abnormal nail morphology

MedGen UID:: 163115
•Concept ID:: C0853087
•: Anatomical Abnormality

Abnormal structure or appearance of the nail.

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Abnormality of head or neck
- Abnormal dental morphology
Abnormality of limbs
Abnormality of the integument
- Abnormal nail morphology
- Abnormal sweat gland morphology

Recent clinical studies

Diagnosis

An unusual presentation of postaxial polydactyly of the foot.

López-López D, Becerro-de-Bengoa-Vallejo R, Losa-Iglesias ME, Bautista Casasnovas AL
Int Wound J 2017 Oct;14(5):811-812. Epub 2016 Dec 2 doi: 10.1111/iwj.12700. PMID: 27910230 Free PMC Article

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?

Döcker D, Schubach M, Menzel M, Spaich C, Gabriel HD, Zenker M, Bartholdi D, Biskup S
Eur J Hum Genet 2015 Mar;23(3):409-12. Epub 2014 Jun 18 doi: 10.1038/ejhg.2014.118. PMID: 24939587 Free PMC Article

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Polydactyly, postaxial, type A6(PAPA6)

Clinical features

Recent clinical studies

Diagnosis

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