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72 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Hearing Problem

  • Mandibulofacial Dysostosis

    This can cause hearing problems if the ear's internal structures are also underdeveloped.[thesun.co.uk] […] bone (nasal hypoplasia) so that the nose is abnormally small and the bridge of the nose may be flattened or depressed.[rarediseases.org] Radiographs showed severe brachydactyly with short metacarpals II-V, metatarsals II-IV and phalanges, first ray hyperplasia of the foot, cone-shaped epiphyses, and early epiphyseal[jcrpe.org]

  • Wiedemann-Steiner Syndrome

    Coffin-Siris syndrome patients may show developmental delay, hypotonia, microcephaly, seizures, Dandy-Walker malformation, vision/hearing problems, finger defects, thick eyebrows[bredagenetics.com] nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Downslanted palpebral fissures[rarediseases.info.nih.gov] Get Update Overview Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males.[diseaseinfosearch.org]

  • Stickler Syndrome Type 2

    Hearing problems are associated with sensorineural or conductive.[ehealthhall.com] Midface hypoplasia, depressed nasal bridge in childhood, anteverted nares (tipped or bent nasal cavity openings), split uvula, cleft hard palate, micrognathia, Pierre-Robin[encyclopedia.com] […] retardation Paroxysmal nocturnal hemoglobinuria Osteopetrosis autosomal recessive 3 Complement component 2 deficiency Loeys-Dietz syndrome type 4 CHARGE syndrome Hand and foot[checkrare.com]

  • Kniest Dysplasia

    Those with Kniest dysplasia may also have vision and hearing problems.[diseaseinfosearch.org] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] Keywords Club Foot Skeletal Dysplasia COL2A1 Gene Otosclerosis Brachydactyly Background Type II collagenopathies range from lethal forms (Achondrogenesis II, Hypochondrogenesis[ojrd.biomedcentral.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Some affected individuals have vision or hearing problems. Affected infants may have feeding problems, which typically get better by age 1 or 2 years.[icdlist.com] nasal tip Generalized osteosclerosis Triangular mouth Cataract Umbilical hernia Epicanthus Myopia Microphthalmia Syndactyly Telecanthus Toe syndactyly Thin vermilion border[mendelian.co] Data on clinical characteristics relating to congenital heart conditions, skin changes, weight-to-height ratio, hearing problems, genital abnormalities, and patient facial[revespcardiol.org]

  • Dubowitz Syndrome

    Hearing problems have not been reported, but vision problems such as problems seeing things up close (farsightedness) and cataracts (clouding of the eye lens) have been reported[rarediseases.org] The patient's nose was small with a wide nasal bridge, hypoplastic alae nasi, and a depressed tip. There was malar flattening and facial asymmetry.[healio.com] […] retardation Paroxysmal nocturnal hemoglobinuria Osteopetrosis autosomal recessive 3 Complement component 2 deficiency Loeys-Dietz syndrome type 4 CHARGE syndrome Hand and foot[checkrare.com]

  • Robinow Syndrome

    Medican conditions include frequent ear infections, hearing loss, hypotonia, developmental problems, respiratory problems, eating difficulties, light sensitivity, and esophageal[rarediseases411.blogspot.com] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] […] and deformed pronated foot.[ncbi.nlm.nih.gov]

  • Autosomal-Recessive Robinow Syndrome

    Medican conditions include frequent ear infections, hearing loss, hypotonia, developmental problems, respiratory problems, eating difficulties, light sensitivity, and esophageal[rarediseases411.blogspot.com] 1%-4% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Bifid tongue Cleft tongue Forked[rarediseases.info.nih.gov] […] or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM), or lobster claw syndrome.[pinterest.de]

  • Beta-Mannosidosis

    This autosomal recessive disorder is characterized by a wide range of symptoms including mental retardation, behavioural problems, hearing loss, recurrent respiratory infections[ncbi.nlm.nih.gov] Somatic findings include slightly coarse facies with an enlarged nasal tip, a depressed nasal bridge, and thick lips. No organomegaly or skeletal deformity is noted.[emedicine.medscape.com] […] retardation Paroxysmal nocturnal hemoglobinuria Osteopetrosis autosomal recessive 3 Complement component 2 deficiency Loeys-Dietz syndrome type 4 CHARGE syndrome Hand and foot[checkrare.com]

  • Adactyly of Foot

    problems, renal hypoplasia, myopia, congenital cataracts, intellectual disability, and congenital heart defects (Elliott et al. , 2005 ; Dimitrov et al. , 2010 ; Filho et[liebertpub.com] nasal tip Hypoplasia of the thymus Hand polydactyly Sparse eyelashes Hypogonadotrophic hypogonadism Sparse and thin eyebrow Sparse scalp hair Semilobar holoprosencephaly[mendelian.co] , unspecified lower limb Approximate Synonyms Brachydactyly of bilat toes Brachydactyly of bilateral toes Brachydactyly of left toes Brachydactyly of right toes Brachydactyly[icd9data.com]