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48 Possible Causes for Dysmorphic Face, Sandal Gap

  • Pyknodysostosis

    Toes showing sandal gap deformity. Hands showing short stubby spoon shaped digits with dystrophic nails.[ncbi.nlm.nih.gov] Figure 1 Toes showing sandal gap deformity. Figure 2 Hands showing short stubby spoon shaped digits with dystrophic nails.[dx.doi.org] Authors: Ahmed, Nabeel M Pandey, Vinay Srivastava, Neha Keywords: cathepsin K prognathism wormian bones potters thumb sandal gap Issue Date: Jan-2016 Citation: Shriwastava[imsear.li.mahidol.ac.th]

  • Patau Syndrome

    gap : Wide spacing between big toe and the second toe.[flexikon.doccheck.com] Finger- and toenails: Bent, narrow and partially hypoplastic (underdeveloped) Malformations and malpositions Polydactylia : Presence of additional fingers Rock bottom feet Sandal[flexikon.doccheck.com]

  • Seckel Syndrome

    gap Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between[rarediseases.info.nih.gov] face (bird-like), and mild to severe intellectual disability.[orpha.net] A dysmorphic face with a receding chin and a relatively big nose could also render mask ventilation difficult. [11] Dental malocclusion, receding chin, high palatal arch could[joacp.org]

  • Russell-Silver Syndrome

    gap Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between[rarediseases.info.nih.gov] […] and further dysmorphisms.[ncbi.nlm.nih.gov] The disease is associated with additional dysmorphic features including fifth finger clinodactyly and hemihypoplasia (table 1 ).[doi.org]

  • Skeletal Dysplasia

    […] hypoplastic isquium pubis, delayed proximal and medial phalangeal ossification FLNB AD Atelosteogenesis type II (# 256050) Hypertelorism, flat nose, cleft palate, short neck, “sandal[scielo.br] gap between 1 and 2 toes, ulnar deviation of the thumbs Platyspondylia, cervical kyphos, short ribs, dysplastic vertebrae, bifid humerus, glenoid hypoplasia SLC26A2 AR Atelosteogenesis[scielo.br]

  • Down Syndrome

    The space between the first and second toes may also be widened (sandal-gap toes).[merckmanuals.com] […] specific clinical signs at birth Neonatal signs of Down syndrome [ 20, 30 ] Most reliable and discriminative signs Small ears Wide space in between the 1st and 2nd toe (“Sandal[ncbi.nlm.nih.gov] gap”) Small internipple distance Brushfield spots Nuchal skin fold Reliable and discriminative signs Brachycephaly Hypotonia Flat face Upward slant of the eye split Transverse[ncbi.nlm.nih.gov]

  • Partial Trisomy 21

    In addition, children with DS may have a single palmar crease, short hands and fingers, clinodactyly, sandal gap deformity, and plantar furrow.[symptoma.com] The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead, upward slanting palpebral fissures, epicanthic folds[ncbi.nlm.nih.gov] The patients had nonspecific phenotypes although some of their features such as "sandal gaps", joint hyperlaxity, hypotonia and brachycephaly are present in patients with[biomed.papers.upol.cz]

  • Lethal Hemolytic Anemia-Genital Anomalies Syndrome

    gap Causes List for Sandal gap Some of the possible causes of Sandal gap or similar disorders may include: 2 Acro-renal-ocular syndrome (Sandal gap) Al Gazali syndrome (Sandal[familydiagnosis.com] Cataracts, Hearing Loss, and Neurodegeneration 1 Congenital Central Hypoventilation syndrome 11 Congenital Contractural Arachnodactyly 6 Congenital Contractures of the Limbs and Face[preventiongenetics.com] gap 60 33 hallmark (90%) Very frequent (99-80%) HP:0001852 4 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736 5 oligohydramnios 60 33 hallmark ([malacards.org]

  • Acrootoocular Syndrome

    gap ; Short foot ; Short metacarpal ; Short phalanx of finger ; Short stature ; Wide nasal base Associated Genes - Mouse Orthologs - Source OMIM:264475 (names, synonyms,[mousephenotype.org] It can include: long narrow face with facial dysmorphisms, congenital cataract, blepharophimosis, dental anomalies, syndactyly, cardiopathy, cleft palate, renal and genital[bredagenetics.com] […] syndrome Index to Diseases and Injuries References found for the code Q87.0 in the Index to Diseases and Injuries: Whistling face - Q87.0 Tower skull - Q75.0 with exophthalmos[icdlist.com]

  • Craniofrontonasal Dysplasia

    gap Scoliosis Sensorineural hearing impairment Sprengel anomaly Thickened nuchal skin fold Woolly hair Aplasia / Hypoplasia of the corpus callosum Aplasia / Hypoplasia of[familydiagnosis.com] Head radiographs showed macrocephaly and brachycephaly with dysmorphic face. Rest infantogram was normal.[ruralneuropractice.com] gap Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between[rarediseases.info.nih.gov]

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