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751 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Mild Radial Bowing

  • Postaxial Oligodactyly, Tetramelic

    nasal tip Panhypopituitarism Bilateral cleft lip Bilateral cleft lip and palate Median cleft lip Hypopituitarism Omphalocele Spastic diplegia Dental malocclusion Spontaneous[mendelian.co] Generalized hypotonia Broad foot Spinal canal stenosis Muscle weakness Hyperhidrosis Fatigue Hernia Arthralgia Joint laxity Arachnodactyly Stroke Joint hypermobility Scarring[mendelian.co] radial bowing normal ulnae Skeletal Hands: postaxial oligodactyly single transverse palmar creases partial-complete absence of 5th phalanges absent 5th metacarpal lunate-triquetral[malacards.org]

  • Wiedemann-Steiner Syndrome

    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] Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Depressed[rarediseases.info.nih.gov]

    Missing: Mild Radial Bowing
  • Thanatophoric Dysplasia

    The pregnancy was subsequently terminated, and a 480-g malformed fetus was delivered with macrocephaly, depressed nasal bridge, short upturned nasal tip, hypoplastic midface[ncbi.nlm.nih.gov] […] syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly, Synopolydactyly with clefting HSPG2 Dyssegmental[genda.com.ar] PLSD, Torrance type is characterized by shortened long bones with ragged metaphyses, radial bowing, and wafer-like vertebrae.[ncbi.nlm.nih.gov]

  • Kabuki Syndrome

    Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation[ncbi.nlm.nih.gov] nasal tips, short fifth fingers, psychomotor retardation and dermatologic abnormalities.[ncbi.nlm.nih.gov] Patient had neurological deficit, psychomotor retardation, a peculiar face, including large prominent cup shaped ears, broad depressed nasal tip, and high arched palate, and[ncbi.nlm.nih.gov]

    Missing: Brachydactyly of the Foot Mild Radial Bowing
  • Metaphyseal Acroscyphodysplasia

    The differential diagnosis of GNAS- orPDE4D-related disorders from others requires the accurate assess-ment for features of acrodysostosis type 2 (depressed nasal root,short[docslide.us] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] […] nose with broad nasal tip, and short philtrum), PHP (roundface, brachydactyly, short stature, obesity, and intellectual im-pairment), and endocrinological abnormality.In[docslide.us]

    Missing: Mild Radial Bowing
  • Congenital Elbow Dislocation

    […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] , mild bowing of the proximal ulna Congenital Radial Head Dislocation Classification Treatment non-operative management strongly recommend may be treated by radial head resection[eorif.com] Note the dome-shaped radial head lacking a central depression and the mild bowing of the proximal ulna.[healio.com]

    Missing: Depressed Nasal Tip
  • Humerus Trochlea Aplasia

    Other less common features include club foot, clinodactyly, ulnar deviation of the second finger. Pathology Like other brachydactyly, type A4 is ...[radiopaedia.org] […] to the amount of radius present: Type I Mild radial shortening without considerable bowing Minor radial deviation of the hand is apparent Considerable thumb hypoplasia It[boneandspine.com] Brachydactyly type A4 or Temtamy type is characterized by brachymesophalangy (absent or hypoplastic middle phalanx) of the second and fifth fingers.[radiopaedia.org]

    Missing: Depressed Nasal Tip
  • Adactyly of Foot

    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] nasal root and tip Comments:Note the difference from Depressed nasal bridge.[quizlet.com]

    Missing: Mild Radial Bowing
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    nasal tip Generalized osteosclerosis Triangular mouth Cataract Umbilical hernia Epicanthus Myopia Microphthalmia Syndactyly Telecanthus Toe syndactyly Thin vermilion border[mendelian.co] In older individuals, the chin and nasal tip becomes more prominent and the face elongates.[chginc.org] Autosomal dominant inheritance Sparse hair Large fontanelles Osteolysis Joint stiffness Short foot Short nose Short finger Short distal phalanx of finger Sparse eyelashes[mendelian.co]

    Missing: Mild Radial Bowing
  • Kleiner Holmes Syndrome

    […] and thumb abduction (Hallux Varus) Hand foot uterus syndrome (Hallux varus) Hand-foot-genital syndrome (Hallux varus) Jackson-Weiss syndrome ... ...[familydiagnosis.com] It was observed that he had a right lower limb deformity consisting of medial splaying and duplication of the hallux with mild anterolateral bowing of the ipsilateral tibia[jmedicalcasereports.biomedcentral.com] Brachydactyly Clinodactyly of the 5th finger Clinodactyly Short foot SOURCES: SCTID OMIM GARD MONDO MESH UMLS ORPHANET More info about BRACHYDACTYLY, TYPE A2; BDA2 Top 5[mendelian.co]

    Missing: Depressed Nasal Tip