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56 Possible Causes for Absent Labia Majora

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  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    labia majora small clitoris Skin Nails Hair Nails: absent/hypoplastic nails Head And Neck Neck: short neck torticollis branchial pits Genitourinary External Genitalia Male[malacards.org] The labia majora may be absent. Talipes equinovarus, either unilateral or bilateral, has been noted, as has rocker-bottom feet due to vertical talus.[healio.com] Skeletal Limbs: short fibula short radius short ulna joint contractures (elbows and knees) mesomelic lower limb shortening more Genitourinary External Genitalia Female: absent[malacards.org]

  • External Auditory Canal Aplasia/Hypoplasia

    Males with Escobar syndrome may have undescended testicles at birth , and females may have absent labia majora. [1, 2] [4] Last updated: 11/16/2016 Source: GARD (NIH) 1 •[familydiagnosis.com]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Males with this condition can have cryptorchidism and females can have absent labia majora.[jpgo.org] majora Absent vaginal lips 0008729 Aortic aneurysm Bulge in wall of large artery that carries blood away from heart 0004942 Cleft palate 0000175 Cognitive impairment Abnormality[rarediseases.info.nih.gov] 0003422 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Abnormality of the tongue Abnormal tongue Tongue abnormality [ more ] 0000157 Absence of labia[rarediseases.info.nih.gov]

  • Lethal Multiple Pterygium Syndrome

    Males with this condition can have cryptorchidism and females can have absent labia majora.[jpgo.org] majora Absent vaginal lips 0008729 Aortic aneurysm Bulge in wall of large artery that carries blood away from heart 0004942 Cleft palate 0000175 Cognitive impairment Abnormality[rarediseases.info.nih.gov] 0003422 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Abnormality of the tongue Abnormal tongue Tongue abnormality [ more ] 0000157 Absence of labia[rarediseases.info.nih.gov]

  • Femoral Hypoplasia

    Small penis, testis or labia majora. Inguinal hernia. Polycystic kidney. Absent kidney. Others. Preaxial polydactyly of the feet. Fused or missing ribs.[fetalultrasound.com]

  • X-Linked Lethal Multiple Pterygium Syndrome

    Males with this condition can have cryptorchidism and females can have absent labia majora.[jpgo.org] majora,scoliosis, kyphosis, fusion of vertebrae and/or fusedlaminae; rib anomalies and absent or dysplastic patella(Thompson et al., 1987).[docslide.us] […] stature, pterygia ofneck, axillae, antecubital, popliteal and intercrural areas;camptodactyly, syndactyly, equinovarus and/or rocker-bottom feet; cryptorchidism, absence of labia[docslide.us]

  • X-Linked Intellectual Disability Type Shrimpton

    External genitalia are often abnormal (eg, cryptorchidism, absent labia majora) because of abnormal hip position.[emedicine.medscape.com]

  • Ring Chromosome 13

    […] uterus * Bifid scrotum * Undescended testes * Dysplasia of labia majora * Dysplasia of clitoris * Penoscrotal transposition * Adrenal hypoplasia * Growth retardation * Motor[checkorphan.org] Imperforate anus * Aplasia of small intestine * Hypopolastic kidney * Dilated urogenital collecting system * Hydronephrosis * Ambiguous genitalia * Hypospadias * Small penis * Absent[checkorphan.org]

  • Rapp-Hodgkin Syndrome

    majora (small labia majora), and small mouth.[xpertdox.com] Patients may also present with bifid uvula, absent lacrimal punctum, cleft lip and cleft palate .[xpertdox.com] […] middle ear infection , narrow nasal breadth, hypospadias (birth defect in boys characterized by opening of the urethra located on the underside of the penis), hypoplastic labia[xpertdox.com]

  • Disorder of Sex Development

    Patients develop testes (often found in the labia majora); surgically removed to prevent malignancy.[quizlet.com] -- uterus and fallopian tubes absent).[quizlet.com] […] genitalia with scant sexual hair, rudimentary vagina (urogenital sinus forms lower 2/3 of vagina but, due to presence of MIF, upper 1/3 and other more proximal structures are absent[quizlet.com]

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