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22 Possible Causes for Brachydactyly of the Foot, Depressed Nasal Tip, Micrognathism

  • 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] In some patients, mandibular growth after birth is good, in contrast to those who remain significantly micrognathic.[emedicine.com]

  • 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] Coffin- Siris syndrome 0 *Abnormalities, Multiple *Hand Deformities, Congenital *Intellectual Disability *Micrognathism Face/abnormalities Neck/abnormalities.[reference.md]

  • 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] […] lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism[csbg.cnb.csic.es]

  • Pfeiffer-Palm-Teller Syndrome

    nasal tip Acute lymphoblastic leukemia Inverted nipples Protruding tongue Long palpebral fissure Retinal coloboma Bilateral ptosis Abnormality of the outer ear Bruising susceptibility[mendelian.co] […] chromosome anomalies Ulbright-Hodes syndrome Ulna hypoplasia-intellectual disability syndrome Ulna metaphyseal dysplasia syndrome Ulnar hemimelia Ulnar hypoplasia-split foot[se-atlas.de] Genee- Wiedemann syndrome 0 *Abnormalities, Multiple *Mandibulofacial Dysostosis *Micrognathism *Limb Deformities, Congenital.[reference.md]

  • 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] […] deafness - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypothyroidy - Laryngomalacia - Micrognathia / retrognathia / micrognathism[csbg.cnb.csic.es]

  • 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] 400 paramedian mucous cysts of the lower lip, 389 Parkes-Weber syndrome, 53, 215 parrot s beak deformity, 356 partial duplication 3q syndrome, 364 peromelia, 174, 175 with micrognathism[docplayer.net]

  • 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] Other factors, such as a micrognathism and adenoid hypertrophy, are likely to contribute in causing OSA. [5] The most common syndromic forms of craniosynostosis; i.e.[en.wikipedia.org]

  • Familial Congenital Nasolacrimal Duct Obstruction

    nasal bridge; Short nose; Upturned nasal tip; [Mouth]; Large, carp-shaped mouth; [Neck]; Short neck CARDIOVASCULAR: [Heart]; Ventricular septal defect; Atrial septal defect[genome.jp] In fact, the ratio of the width of the great toe to the second toe may be useful in diagnosing this syndrome. 87 , 91 Brachydactyly, clinodactyly, and partial soft tissue[entokey.com] Mesothelioma, Cystic Metabolic Diseases Metabolic Syndrome X Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Metaplasia Methemoglobinemia Metrorrhagia Microcephaly Micrognathism[medgene.med.harvard.edu]

  • Saethre-Chotzen Syndrome

    tip, depressed nasal bridge.[nipt.ng] In addition to partial cutaneous syndactyly, mild brachydactyly and clinodactyly of the 5th fingers are features in the hand and foot.[rrnursingschool.biz] In some patients, mandibular growth after birth is good, in contrast to those who remain significantly micrognathic.[emedicine.medscape.com]

  • 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] Yunis Varon syndrome 0 *Cleidocranial Dysplasia *Ectodermal Dysplasia *Micrognathism *Limb Deformities, Congenital.[reference.md]

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