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88 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Severe Brachydactyly

  • 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] The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly.[ncbi.nlm.nih.gov]

  • Acromesomelic Chondrodysplasia with Genital Anomalies

    Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] ; Broad foot ; Carpal synostosis ; Disproportionate short-limb short stature ; Fibular aplasia ; Hypergonadotropic hypogonadism ; Hypoplasia of the ulna ; Hypoplasia of the[mousephenotype.org] The 16 year old girl, the offspring of a multiconsanguinous family, showed a severe form of limb malformation consisting of aplasia of the fibula, severe brachydactyly, ulnar[ncbi.nlm.nih.gov]

  • Mandibulofacial Dysostosis

    […] 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] (OMIM phenotype number #101800 ) Acrodysostosis comprises a heterogeneous group of rare skeletal dysplasia that share characteristic features, such as severe brachydactyly[iofbonehealth.org]

  • Robinow 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] […] and deformed pronated foot.[ncbi.nlm.nih.gov] […] recessive brachydactyly.[ncbi.nlm.nih.gov]

  • 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] brachydactyly, Mullerian abnormalities Femur-fibula-ulna syndrome 228200 Sporadic Hypoplasia/aplasia of the femur, fibula Fibuloulnar aplasia with renal anomalies 228940[docksci.com]

  • Autosomal-Recessive Robinow Syndrome

    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] In our analysis we focus on the most severe form of the brachydactylies, brachydactyly type B1.[bcp.fu-berlin.de]

  • 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] Fibular hemimelia is also found in several generalized skeletal dysplasias and dysostoses.[dysnet.org]

  • Distal Symphalangism

    […] premaxillary region Broad/bulbous nasal tip Brittle hair/trichorrhexis nodosa/pili torti Irregular length or shape of toes Facies significantly abnormal Natal/neonatal teeth[head-face-med.biomedcentral.com] Signs and symptoms : Signs and symptoms may include chess-pawn distal phalanges, camptodactyly of finger (permanent flexion of the finger), pes cavus (high-arched foot), brachydactyly[xpertdox.com] Several manifestations of distal symphalangism were observed, including the lack of cutaneous creases over affected joints, brachydactyly, fourth-finger hypophalangism, absent[ncbi.nlm.nih.gov]

  • Cenani Syndactylism

    A minor depression on the nasal tip of one of the subject (504) was notable (Fig. 2D).[kundoc.com] Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel that also includes the following genes[mendelian.co] Brachydactyly, and Syndactyly Singh Chhaparwal Dhanda Syndrome Skeletal Defects, Genital Hypoplasia, And Mental Retardation Skeletal Dysplasia And Progressive Central Nervous[rgd.mcw.edu]

  • Craniosytosis Type 4

    The nose is typically short with a depressed bridge and a round nasal tip. Patients present with a high arched palate, delayed dental eruption and malocclusion.[dr-bianca-knoll.com] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] […] speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hypertelorism syndrome Intellectual disability-sparse hair-brachydactyly syndrome Intellectual[se-atlas.de]

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