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27 Possible Causes for Short Neck, Short Stature, Wide Space Between the First and Second Toe

  • Down Syndrome

    stature, upward slanting eyes, a flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called[merriam-webster.com] Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[britannica.com] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • Atelosteogenesis

    ", keywords "chondrodystrophy, dwarfism, equinovarus foot deformity, fibular agenesis, joint dislocation, Larsen syndrome, rhizomelia, short stature", author "Stern, {H.[jhu.pure.elsevier.com] […] femur ; Short humerus ; Short metacarpal ; Short metatarsal ; Short neck ; Short nose ; Sporadic ; Stillbirth ; Talipes equinovarus ; Thoracic platyspondyly ; Tibial bowing[mousephenotype.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]

  • Atelosteogenesis Type 2

    More than 200 inherited skeletal dysplasias are currently recognised.[socialstyrelsen.se] […] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,[mousephenotype.org] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and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]

  • Ring Chromosome 10

    Clinical features included development retardation, short stature, mild mental retardation and cryptorchidism. He had a history of photohypersensitivity.[eurekamag.com] neck Decreased length of neck 0000470 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Thin vermilion border Decreased volume of lip Thin lips [ more ][rarediseases.info.nih.gov] Patients with type 1 have generally a normal phenotype , with only occasional reports of short stature.[omicsonline.org]

  • Dubowitz Syndrome

    Dubowitz's syndrome (disorder) Dubowitz's syndrome Dwarfism-eczema-peculiar facies syndrome Intrauterine growth retardation, short stature, microcephaly, mild mental retardation[wikidata.org] The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.[cafamily.org.uk] 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]

  • Craniofrontonasal Dysplasia

    […] neck Short stature Split nail Telecanthus Toe syndactyly Umbilical hernia Unilateral breast hypoplasia Wide nasal bridge Widow's peak X-linked dominant inheritance Last updated[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] Ears were low set, and neck was short without webbing.[mjdrdypu.org]

  • Seckel Syndrome

    Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like[ncbi.nlm.nih.gov] neck, and large prominent eyes, dwarfism in the pre, peri and post-natal, presence of microcephaly and episodes of choking.[scielo.br] 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]

  • Greenberg Dysplasia

    Polyhydramnios and hydrops fetalis were found as well as severe short limb, short stature, and cystic hygroma of the neck.[doi.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] For example, Kniest dysplasia is a rare, autosomal dominant disorder characterized by short stature and dumbbell-shaped femurs with extremely broad and shortened femoral necks[musculoskeletalkey.com]

  • Cutis Laxa

    stature, microcephaly, and severe developmental and speech delay.[ncbi.nlm.nih.gov] neck and diastase of the abdominal muscles.[scielo.br] These conditions also share additional features, such as short stature, hypotonia, and congenital hip dislocation, but the severity and frequency of these findings are variable[ncbi.nlm.nih.gov]

  • Baraitser Syndrome

    As a result of prenatal and postnatal growth retardation, most of these patients have a short stature.[ijpd.in] In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.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]

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