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1,683 Possible Causes for Absent Labia Majora, Absent Pulp Chambers, Low Set Ears

  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    The pulp chamber and canal are greatly diminished in size or even totally absent. The skull is large, especially in the anteroposterior direction.[healio.com] 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] Facial dysmorphism included telecanthus and a carp-shaped mouth, and she had dysplastic and low-set ears.[omim.org]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Males with this condition can have cryptorchidism and females can have absent labia majora.[jpgo.org] Abnormalities of the head usually consist of epicanthal microcephaly, skin folds, long philtrum, antimongoloid palpebral slant, low-set ears, pointed and receding chin, ptosis[whonamedit.com] ears Low set ears Lowset ears [ more ] 0000369 Malignant hyperthermia 0002047 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Multiple pterygia 0001040[rarediseases.info.nih.gov]

    Missing: Absent Pulp Chambers
  • Smith-Magenis Syndrome

    In addition, secondary teeth, particularly premolars, might be absent while the other teeth might display enlarged pulp chambers and reduced roots (taurodauntism).[symptoma.com] ears, and brachydactyly.[link.springer.com] Craniofacial and skeletal abnormalities are common, including brachycephaly, broad nasal bridge, flat midface, tented upper lip, synophrys, hypertelorism, abnormally shaped or low-set[link.springer.com]

    Missing: Absent Labia Majora
  • Congenital Aural Atresia

    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] Low-set ears Low-set ears HP:0000369 - 6.1.9 Posteriorly rotated ears Posteriorly rotated ears HP:0000358 - 6.1.10 Auricular pits/fistulas Preauricular sinus HP:0004467 -[compbio.charite.de] Low set ear in renal agenesis 10.[sonoworld.com]

    Missing: Absent Pulp Chambers
  • Cerebellotrigeminal Dermal Dysplasia

    […] eyelashes Prominent superficial veins Short sternum Alopecia totalis Adactyly Skin tags Labial hypoplasia Hypoplastic scapulae Hypoplastic labia majora Eyelid coloboma Coarse[mendelian.co] Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment[orpha.net] Affiliated tissues include brain, eye and bone, and related phenotypes are low-set ears and hydrocephalus OMIM : 58 Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal[malacards.org]

    Missing: Absent Pulp Chambers
  • 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] […] skeletal system consisting of shortened or absent bilateral femurs, variable bony sacral abnormalities, bilateral talipes equinovarus, and an unusual facies consisting of low-set[ncbi.nlm.nih.gov] Femoral hypoplasia/unusual facies syndrome Relevant markers: Absent femur Absent kidney Bowed femur Fractured femur Hypoplastic femur/s Long philtrum Low set ear/s Mandibular[phenotip.com]

    Missing: Absent Pulp Chambers
  • Gorlin-Chaudhry-Moss Syndrome

    ), umbilical hernia, and hypoplasia of labia majora are also observed.[orpha.net] She also had synophrys, low set ears, a tuft of hair on her nose, cleft tip of the nose, thin upper lip, downtumed corners of the mouth, high arched palate, webbing between[nature.com] […] anterior hairline ; Low posterior hairline ; Low-set ears ; Mandibular prognathia ; Microcephaly ; Microdontia ; Micrognathia ; Micropenis ; Microphthalmia ; Midface retrusion[mousephenotype.org]

    Missing: Absent Pulp Chambers
  • X-Linked Mandibulofacial Dysostosis

    chambers, Pulp obliteration occurs after eruption, Roots of permanent and primary teeth are normal shape and length, Permanent teeth - pulp chambers are abnormally large,[quizlet.com] ears Low set ears Lowset ears [ more ] 0000369 Specific learning disability 0001328 X-linked inheritance 0001417 Showing of 29 Last updated: 5/1/2019 If you need medical[rarediseases.info.nih.gov] UNK DiGeorge syndrome chromosome region CATCH22 22q11 188400 DiGeorge syndrome 188400 AD low-set ears, short ears, small mouth, submucous or overt palatal cleft, cleft lip[widesmiles2.org]

    Missing: Absent Labia Majora
  • Kaufman Oculocerebrofacial Syndrome

    Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts.[findzebra.com] Affiliated tissues include eye , skin and brain , and related phenotypes are hypertelorism and low-set ears Genetics Home Reference : 25 Kaufman oculocerebrofacial syndrome[malacards.org] ears Low set ears Lowset ears [ more ] 0000369 Motor delay 0001270 Muscular hypotonia of the trunk Low muscle tone in trunk 0008936 Narrow mouth Small mouth 0000160 Neonatal[rarediseases.info.nih.gov]

    Missing: Absent Pulp Chambers
  • Turner Syndrome

    Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[web.archive.org]

    Missing: Absent Labia Majora Absent Pulp Chambers

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