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Autosomal dominant popliteal pterygium syndrome

MedGen UID:: 979785
•Concept ID:: CN296406
•: Disease or Syndrome

Synonyms:	CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES; FACIOGENITOPOPLITEAL SYNDROME
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.	IRF6 (1q32.2)

Monarch Initiative:	MONDO:0007334
OMIM®:	119500
Orphanet:	ORPHA1300

Disease characteristics

Excerpted from the GeneReview: IRF6-Related Disorders

Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical. [from GeneReviews]

Authors:
Brian C Schutte | Howard M Saal | Steven Goudy, et. al. view full author information

Additional description

From OMIM
Popliteal pterygium syndrome (PPS) is an autosomal dominant disorder with diverse clinical features including orofacial anomalies such as lower lip pits, cleft lip and/or palate, and syngnathia, and skin and genital abnormalities including webbing of the lower limbs, syndactyly, hypoplasia of the labia majora, and bifid or absent scrotum (summary by Matsuzawa et al., 2010). http://www.omim.org/entry/119500

Clinical features

From HPO

Cryptorchidism

MedGen UID:: 8192
•Concept ID:: C0010417
•: Congenital Abnormality

Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

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Uterine hypoplasia

MedGen UID:: 120575
•Concept ID:: C0266399
•: Congenital Abnormality

Underdevelopment of the uterus.

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Bifid scrotum

MedGen UID:: 90968
•Concept ID:: C0341787
•: Congenital Abnormality

Midline indentation or cleft of the scrotum.

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Hypoplasia of the vagina

MedGen UID:: 91040
•Concept ID:: C0345309
•: Congenital Abnormality

Developmental hypoplasia of the vagina.

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Small scrotum

MedGen UID:: 141577
•Concept ID:: C0455792
•: Finding

Apparently small scrotum for age.

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Hypoplastic labia majora

MedGen UID:: 107566
•Concept ID:: C0566899
•: Finding

Undergrowth of the outer labia.

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Clubfoot

MedGen UID:: 3130
•Concept ID:: C0009081
•: Congenital Abnormality

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

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Cutaneous finger syndactyly

MedGen UID:: 866898
•Concept ID:: C4021254
•: Congenital Abnormality

A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.

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Spina bifida occulta

MedGen UID:: 36380
•Concept ID:: C0080174
•: Congenital Abnormality

The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.

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Dementia

MedGen UID:: 99229
•Concept ID:: C0497327
•: Mental or Behavioral Dysfunction

A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.

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Cleft upper lip

MedGen UID:: 40327
•Concept ID:: C0008924
•: Congenital Abnormality

A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.

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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.

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Cleft palate

MedGen UID:: 756015
•Concept ID:: C2981150
•: Congenital Abnormality

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

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Fibrous syngnathia