U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Bartsocas-Papas syndrome 2(BPS2)

MedGen UID:
1778443
Concept ID:
C5543445
Disease or Syndrome
Synonym: POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 2
 
Gene (location): CHUK (10q24.31)
 
Monarch Initiative: MONDO:0859154
OMIM®: 619339

Definition

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). [from OMIM]

Clinical features

From HPO
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Absent distal phalanges
MedGen UID:
396111
Concept ID:
C1861339
Finding
Aplasia (absence) of the distal phalanges.
2-5 finger cutaneous syndactyly
MedGen UID:
870711
Concept ID:
C4025165
Anatomical Abnormality
A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Overfolded helix
MedGen UID:
325239
Concept ID:
C1837731
Finding
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Prominent occiput
MedGen UID:
381255
Concept ID:
C1853737
Finding
Increased convexity of the occiput (posterior part of the skull).
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Ankyloblepharon
MedGen UID:
83282
Concept ID:
C0339182
Anatomical Abnormality
Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
Bilateral cleft lip and palate
MedGen UID:
853256
Concept ID:
C1398522
Congenital Abnormality
Cleft lip and cleft palate affecting both sides of the face.
Accessory oral frenulum
MedGen UID:
867439
Concept ID:
C4021814
Congenital Abnormality
Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.
Axillary pterygium
MedGen UID:
335019
Concept ID:
C1844738
Finding
Presence of a cutaneous membrane (flap) in the armpit.
Antecubital pterygium syndrome
MedGen UID:
401231
Concept ID:
C1867439
Disease or Syndrome
Antecubital pterygium syndrome is an autosomal dominant disorder characterized by a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension, and missing skin creases over the terminal interphalangeal joints of the fingers (summary by Wallis et al., 1988).
Popliteal pterygium
MedGen UID:
811750
Concept ID:
C3805420
Finding
A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.

Recent clinical studies

Etiology

Cadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault I
BMC Med Genet 2018 Mar 9;19(1):41. doi: 10.1186/s12881-018-0556-2. PMID: 29523099Free PMC Article

Diagnosis

Cadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault I
BMC Med Genet 2018 Mar 9;19(1):41. doi: 10.1186/s12881-018-0556-2. PMID: 29523099Free PMC Article
Mitchell K, O'Sullivan J, Missero C, Blair E, Richardson R, Anderson B, Antonini D, Murray JC, Shanske AL, Schutte BC, Romano RA, Sinha S, Bhaskar SS, Black GC, Dixon J, Dixon MJ
Am J Hum Genet 2012 Jan 13;90(1):69-75. Epub 2011 Dec 22 doi: 10.1016/j.ajhg.2011.11.013. PMID: 22197488Free PMC Article
Dolan SM, Shanske AL, Marion RW, Gross SJ
Prenat Diagn 2003 Feb;23(2):138-42. doi: 10.1002/pd.560. PMID: 12575021

Prognosis

Zaki MS, Kamel AK, Effat LK, El-Ruby MO
Genet Couns 2012;23(2):269-79. PMID: 22876587

Clinical prediction guides

De Groote P, Tran HT, Fransen M, Tanghe G, Urwyler C, De Craene B, Leurs K, Gilbert B, Van Imschoot G, De Rycke R, Guérin CJ, Holland P, Berx G, Vandenabeele P, Lippens S, Vleminckx K, Declercq W
Cell Death Differ 2015 Jun;22(6):1012-24. Epub 2014 Nov 28 doi: 10.1038/cdd.2014.191. PMID: 25430793Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...