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2,044 Possible Causes for Proportionate Short Stature at Birth, Syndactyly, Wide Space Between the First and Second Toe

  • Russell-Silver Syndrome

    Syndactyly (fusion) of toes. Sprengel's neck deformity - unilateral shortening and webbing to trunk. X-ray abnormalities include: Delayed bone age.[patient.info] 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 1st, 2nd toes[rarediseases.info.nih.gov] Individuals with RSS typically have proportionately short stature and normal head circumference.[sickkids.ca]

  • Seckel Syndrome

    Patient also had spina bifida, syndactyly, undescended testis and growth retardation.[joacp.org] 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 1st, 2nd toes[rarediseases.info.nih.gov] Following birth, the child will experience slow growth and bone maturation resulting in short yet proportional stature (as opposed to short-limbed dwarfism, or achondroplasia[rarediseases.about.com]

  • Dubowitz Syndrome

    An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe syndactyly, and characteristic facial[ncbi.nlm.nih.gov] 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 1st, 2nd toes[rarediseases.info.nih.gov] Minor anomalies as clinodactylyl of the firth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen.[ncbi.nlm.nih.gov]

    Missing: Proportionate Short Stature at Birth
  • Craniofrontonasal Dysplasia

    Hand polydactyly Hemihypotrophy of lower limb Preaxial foot polydactyly Sandal gap Toe syndactyly Abnormality of prenatal development or birth Thickened nuchal skin fold[familydiagnosis.com] 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 1st, 2nd toes[rarediseases.info.nih.gov] Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and vertical grooving of nails.[ncbi.nlm.nih.gov]

    Missing: Proportionate Short Stature at Birth
  • Kleiner Holmes Syndrome

    Syndactyly Cenani Lenz type 0 *Syndactyly.[reference.md] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first[rarediseases.info.nih.gov]

    Missing: Proportionate Short Stature at Birth
  • Seckel Syndrome Type 2

    […] type 1 HOXD13 Syndactyly type 5 HOXD13 Syndactyly, mesoaxial synostotic, with phalangeal reduction BHLHA9 TANC2 related brain disorders TANC2 Tarp syndrome RBM10 Temple syndrome[centogene.com] 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 1st, 2nd toes[rarediseases.info.nih.gov] […] without fractures B3GALT6 Spondylo-megaepiphyseal-metaphyseal dysplasia NKX3-2 Spondyloperipheral dysplasia COL2A1 Stiff skin syndrome FBN1 Stuve-Wiedemann syndrome LIFR Syndactyly[centogene.com]

  • Cornelia De Lange Syndrome

    Interestingly, the upper limbs are typically much more involved than the lower extremities that generally manifest with small feet and 2-3 syndactyly of the toes and shortened[ncbi.nlm.nih.gov] There is symmetrical slow growth resulting in proportionate short stature which becomes significant by 6 months of age.[patient.info] There is a lobster-claw deformity of the hand, small hands and feet with small and tapered digits, syndactyly between the second and third toes, proximal insertion of the[whonamedit.com]

    Missing: Wide Space Between the First and Second Toe
  • Adactyly of Foot

    […] postaxial polydactyly Polydactyly of a triphalangeal thumb, bilateral Polydactyly of a triphalangeal thumb, unilateral Radial hemimelia, bilateral Radial hemimelia, unilateral Syndactyly[csbg.cnb.csic.es] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[quizlet.com] […] side) in syndactyly and each type of transverse deficiency.[docslide.com.br]

    Missing: Proportionate Short Stature at Birth
  • Acrootoocular Syndrome

    Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net] Growth Weight, head circumference and height are all usually less than fifth percentile both prenatally and after birth. Proportionate short stature occurs.[entokey.com] 0001518 29 growth hormone deficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000824 30 pseudopapilledema 60 33 frequent (33%) Frequent (79-30%) HP:0000538 31 cutaneous syndactyly[malacards.org]

    Missing: Wide Space Between the First and Second Toe
  • Kenny-Caffey Syndrome Type 1

    In the form of sclerosteosis (Truswell–Hansen disease) the patients are tall and fat with syndactyly and nail dysplasia. The hyperostosis is classically endosteal.[elsevier.es] space between the first and second toes.[medcraveonline.com] stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ][rarediseases.info.nih.gov]

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