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47 Possible Causes for Hypoplasia of Labia Majora, short, Upturned Nose

  • Pallister-Killian Syndrome

    Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net] The dysmorphic features included a board forehead with high anterior hairline, hypertelorism, flat nasal bridge, short upturned nose, down turned corners of the mouth, short[ashg.org] Table 2 Clinical features 1 Female 18y/22y Flat, broad nasal root, upslanting palpebral fissures, hypertelorism, coarse face, anteverted nostrils, retrognathia, small ears[molecularcytogenetics.biomedcentral.com]

  • Gorlin-Chaudhry-Moss Syndrome

    Affected children have bone abnormalities like short fingers and toes.[symptoma.com] […] of labia majora,, Gorlin-Chaudhry-Moss syndrome, Moved to 612289, craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and[monarchinitiative.org] Growth retardation, marked hair on body, torticollis, upturned nose, flat nasal bridge with broad nasal root, deep creases on the feet.[vivavoceoralmedicineradiology.com]

  • Robinow Syndrome

    We describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face.[ncbi.nlm.nih.gov] Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities[ncbi.nlm.nih.gov] All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares, micrognathia, mesomelic[ncbi.nlm.nih.gov]

  • Autosomal-Recessive Robinow Syndrome

    In contrast, Ror2-/- mice have a short-limbed phenotype that is more reminiscent of the mesomelic shortening observed in RRS.[ncbi.nlm.nih.gov] majora / labia minora / female external genitalia hypoplasia - Depressed nasal bridge - Dysplastic / thick / grooved fingernails - Elbow dislocation - Epicanthic folds -[csbg.cnb.csic.es] Clinical signs such as short stature, characteristic facial features (hypertelorism, midface hypoplasia, large nasal bridge, short upturned nose, and anteverted nares), mesomelic[orpha.net]

  • Cerebellotrigeminal Dermal Dysplasia

    In addition to the shortness of the skull, it is also misshapen and often flattened on the back.[en.wikipedia.org] Hypoplastic scapulae Hypoplastic labia majora Eyelid coloboma Coarse facial features Retinal atrophy Progressive Aortic aneurysm Hypoplasia of the abdominal wall musculature[mendelian.co] His examination was notable for turribrachycephaly, prominent forehead, bilateral parietotemporal alopecia, midfacial retrusion, anteverted nostrils, micrognathia, low-set[ncbi.nlm.nih.gov]

  • Hypertrichotic Osteochondrodysplasia

    Diseases related with Cardiomyopathy and Short phalanx of finger In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Short[mendelian.co] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Broad hallux phalanx Broad bone of big toe Wide bone of big toe [ more ] 0010059 Broad ribs Wide ribs[rarediseases.info.nih.gov] Micrognathia, a short upturned nose and a short philtrum were present. The blood pressure was 190/135 mm/hg. An echocardiogram demonstrated normal heart anatomy.[ped-rheum.biomedcentral.com]

  • Cornelia De Lange Syndrome

    In conclusion, GH therapy may be effective and safe for short children with CdLS.[ncbi.nlm.nih.gov] […] of penis Underdeveloped penis 0008736 Hypoplastic labia majora Small labia majora Underdeveloped vaginal lips [ more ] 0000059 Hypoplastic nipples Small nipples 0002557 Hypospadias[rarediseases.info.nih.gov] nose.[symptoma.com]

  • Hypomandibular Faciocranial Dysostosis

    Manifestations include craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture[ncbi.nlm.nih.gov] […] of labia majora syndrome; dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome; gcm syndrome Related symptoms: Autosomal dominant inheritance Short[mendelian.co] Showing of 33 80%-99% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Aplasia/Hypoplasia[rarediseases.info.nih.gov]

  • Schinzel-Giedion Syndrome

    […] nose low nasal bridge anteverted nares macroglossia short neck atrial septal defect choanal stenosis hypoplastic first ribs broad ribs long clavicles short sternum hypoplastic[humpath.com] […] of first ribs Small first rib Underdeveloped first rib [ more ] 0006657 Hypoplastic labia majora Small labia majora Underdeveloped vaginal lips [ more ] 0000059 Hypoplastic[rarediseases.info.nih.gov] A clinical diagnosis may be made by identifying the facial phenotype, including prominent forehead, midface retraction, and short, upturned nose, plus one of either of the[ncbi.nlm.nih.gov]

  • Renpenning Syndrome 1

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] majora Short forearm Duplication of the distal phalanx of hand Missing ribs Increased number of teeth Absent uvula Abnormal oral frenulum morphology Alveolar ridge overgrowth[mendelian.co] From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes[wikidata.org]

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