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10 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Normal Tarsal Bones

  • 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] tarsal bones cone-shaped epiphyses (2nd-4th) Skeletal Limbs: mild radial bowing normal ulnae Skeletal Hands: postaxial oligodactyly single transverse palmar creases partial-complete[malacards.org] Generalized hypotonia Broad foot Spinal canal stenosis Muscle weakness Hyperhidrosis Fatigue Hernia Arthralgia Joint laxity Arachnodactyly Stroke Joint hypermobility Scarring[mendelian.co]

  • Ulna Metaphyseal Dysplasia Syndrome

    Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] Small tubular bones (metacarpals and meta-tarsals) showed irregular metaphyses with normal epiphyses.[indianpediatrics.net] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de]

  • Anonychia Congenita Totalis

    nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae,[mendelian.co] All fingers were normal, the metacarpals, metatarsals, carpal, and tarsal bones were normal in shape and alignment on both sides.[ijhas.in] Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. Indian J Hum Genet 2014;20:206-8. [ PUBMED ] 3.[ijpd.in]

  • Thai Symphalangism Syndrome

    Signs and Symptoms Brachydactyly syndrome Broad philtrum Distal symphalangism of hands Dolichocephaly High palate Hypodontia Hypoplastic helices Postaxial foot polydactyly[familydiagnosis.com] nasal tip Ulnar deviation of the hand Microphallus Shield chest Ulnar deviation of the hand or of fingers of the hand Tics Camptodactyly of finger Micropenis Ventriculomegaly[mendelian.co] […] union between two tarsal bones Os Peroneum - Normal ankle variant - Located adjacent to the cuboid Os Trigonum - Normal ankle variant - Located posterior to the ankle joint[cram.com]

  • Tibial-Metacarpal Chondrodysplasia Punctata

    […] nose tip * Short nose column * Depressed nose bridge * Infant breathing problems due to nasal airway abnormality * Short fingers * Bulbous thumbs * Extra finger Note that[checkorphan.org] Tarsal and carpal bone development wasrelatively normal with no residua of stippling.[dokumen.tips] , clinodactyly of the fifth finger, short great toe, small foot, metacarpal anomalies, dislocated hip and restricted joint mobility), the skeleton (flat cheek bones, punctate[accessanesthesiology.mhmedical.com]

  • Brachytelephalangic Chondrodysplasia Punctata

    , and distinct face Brachydactyly-hypertension syndrome Microcephaly-oculo-digito-esophageal-duodenal syndrome Hand-foot-genital syndrome Rubinstein-Taybi syndrome Brachydactyly[emedicine.medscape.com] He had depressed nasal bridge & other unique facial features, short fingers with broad finger tips & hypotonia. He had no cataract & ichthyosis.[ashg.org] Radiography showed hypoplastic terminal phalanges, delayed bone age (1/13), epiphyseal stippling in carpal (3/13) and tarsal bones (2/13), sacral bone (1/13), and bullet-shaped[journals.lww.com]

  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    nasal bridge Skeletal muscle atrophy Intellectual disability, progressive Aplasia of the ulna Abnormality of the radius Open mouth Diabetes insipidus Bifid nose Widow's peak[mendelian.co] Absence of tarsals, metatarsals and toes. Limbs. Absence of long bone of legs in 55% of cases (most commonly tibial aplasia. Tibial hypoplasia.[fetalultrasound.com] AD Hypodontia (may be part of EEC spectrum) Split-hand/foot with micrognathia 246560 AD Micrognathia Triphalangeal thumbs with brachyectrodactyly 190680 AD Brachydactyly,[docksci.com]

  • Chondrodysplasia punctata Type Toriello

    nasal bridge with bulbous tip, and macrostomia.[ncbi.nlm.nih.gov] Skeletal X-rays in the neonatal period revealed stippling of ossification centers of the tarsal bones of the feet plus sacral stippling, deficient ossification of the central[tiptiktak.com] , clinodactyly of the fifth finger, short great toe, small foot, metacarpal anomalies, dislocated hip and restricted joint mobility), the skeleton (flat cheek bones, punctate[accessanesthesiology.mhmedical.com]

  • Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome

    (including brachydactyly) Wide sutures/delayed fusion of sutures Missing permanent teeth/retained deciduous teeth Micrognathia/agnathia/retrognathia Dysplastic/grooved/thick[head-face-med.biomedcentral.com] , proptosis, frontal bossing, dysplastic ears, osteogenesis with long bone fractures, urogenital abnormalities, joint contractures/fractures, choanal stenosis/atresia, dysplastic[quizlet.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]

  • Cardio-Spondylo-Carpo-Facial Syndrome

    Minor criteria Foot deformities: broad/plump forefoot, brachydactyly with excessive skin; pes planus; hallux valgus; piezogenic papules.[patient.info] Syndrome Facies Achondroplasia Frontal bossing, depressed nasal bridge Apert Proptosis, downsloping palpebral fissures Camptodactyly Flat face Cantu syndrome Full lips, long[musculoskeletalkey.com] […] and extensive vertebral synostosis, delayed carpal bone age, deafness, and inner ear malformations.[ncbi.nlm.nih.gov]