Create issue ticket

4,005 Possible Causes for Dull Facial Expression, 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] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[doi.org]

  • Congenital Hypothyroidism

    In addition, the phenotype of Albright hereditary osteodystrophy (AHO) is observed, which may include short stature, round facies, brachydactyly, obesity, ectopic soft tissue[ncbi.nlm.nih.gov] She has short stature, and associated history of delayed dental eruption and shedding.[ncbi.nlm.nih.gov] Clinical symptoms include severe mental retardation, impaired skeletal development, short stature, and myxedema. A deficiency of thyroid hormone present at birth.[icd9data.com]

    Missing: Wide Space Between the First and Second Toe
  • Juvenile Myxedema

    Abstract A FREQUENT presenting sign of hypothyroidism in children is short stature.[mdedge.com] Case Report A 24-year-old male presented for evaluation of short stature.[thetrp.net] Not all children with short stature have GH deficiency. In most instances, the cause is either familial short stature or constitutional growth delay.[nursekey.com]

    Missing: Wide Space Between the First and Second Toe
  • Mental Retardation

    We speculate that haploinsufficiency of HDAC4 is responsible for short stature, mental retardation and developmental delay, and haploinsufficiency of EFHD1 is most likely[ncbi.nlm.nih.gov] It is common that females with Xp;Yq translocations present only short stature and are normal in every other aspect.[ncbi.nlm.nih.gov] Abstract We report molecular and cytogenetic characterization of proximal deletion of chromosome 4q, del(4)(q12 -- q21.21) in a 131/2-year-old girl with short stature, mental[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • 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] 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] To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated[ncbi.nlm.nih.gov]

    Missing: Dull Facial Expression
  • Atelosteogenesis Type 2

    More than 200 inherited skeletal dysplasias are currently recognised.[socialstyrelsen.se] 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] Key Points Distinct skeletal dysplasia characterized by disproportionate short stature, clubfoot, cleft palate, “hitch-hiker’s thumb,” and “cauliflower ear.”[mhmedical.com]

    Missing: Dull Facial Expression
  • 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] 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] One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed.[ncbi.nlm.nih.gov]

    Missing: Dull Facial Expression
  • Ring Chromosome 10

    Clinical features included development retardation, short stature, mild mental retardation and cryptorchidism. He had a history of photohypersensitivity.[eurekamag.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] Patients with type 1 have generally a normal phenotype , with only occasional reports of short stature.[omicsonline.org]

    Missing: Dull Facial Expression
  • Russell-Silver Syndrome

    Abstract A family is described with a syndrome of short stature, abnormal pigmentation of the skin and mild facial dysmorphism.[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] PURPOSE: The purpose of this study was to assess the occlusal characteristics of individuals with growth hormone deficiency (GHD), idiopathic short stature (ISS), and Russell-Silver[ncbi.nlm.nih.gov]

    Missing: Dull Facial Expression
  • Endocrine Dysfunction

    Definition A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction.[uniprot.org] Symptoms include dulled facial expressions, hoarse voice, slow speech, eyelids droop, puffy and swollen face and eyes, weight gain, constipation, inability to tolerate cold[brainaacn.org] Short stature was common, being documented in 38% of cases. Gonadal dysfunction before or after puberty was also common (20% of cases) and affected both sexes equally.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe

Similar symptoms