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4,034 Possible Causes for Fetus Small for Gestational Age, Short Stature, Wide Space Between the First and Second Toe

  • 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]

  • 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]

  • Kenny-Caffey Syndrome Type 1

    Short and tall stature: a new paradigm emerges. Nat rev endocrinol. 2015;11:735–46.[springermedizin.de] space between the first and second toes.[medcraveonline.com] Patients with FAM111A mutations have severe short stature ( 3 to 7 SDS) [ 4 ].[ijpeonline.biomedcentral.com]

  • Bloom Syndrome

    Bloom syndrome is an autosomal recessive disorder characterized by proportionate short stature, photosensitivity, immunodeficiency, hypogonadism and a tendency to develop[ncbi.nlm.nih.gov] Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased[ncbi.nlm.nih.gov] Being aware of this might prevent a delay in diagnosing this rare short-stature syndrome and, subsequently, its potential clinical implications.[ncbi.nlm.nih.gov]

    Missing: 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]

    Missing: Fetus Small for Gestational Age
  • Chromosome 19q13.11 Deletion Syndrome

    […] nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short philtrum 0000322 Short stature Decreased[rarediseases.info.nih.gov] Prenatal ultrasound examination was performed at the 27 th week of gestation because the fetus was small for gestational age.[degruyter.com] Synopsis congenital diaphragmatic hernia (CDH) cognitive deficits cryptorchidism short stature Diamond-Blackfan anaemia (DBA) 15q25.2 target genes CPEB1, AP3B2 HOMER2 HDGFRP3[humpath.com]

    Missing: Wide Space Between the First and Second Toe
  • 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] The ultrasound scan demonstrated a small fetus (crown–rump length of 83.5 mm consistent with a gestational age of 13 weeks), nuchal oedema (nuchal translucency 8.8 mm), what[jmg.bmj.com]

  • 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: Fetus Small for Gestational Age
  • Donohue Syndrome

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] The disease is known as leprechaunism because infants with the disease show an elf-like face and short stature.[genome.jp] stature Decreased body height Small stature [ more ] 0004322 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Thick lower lip vermilion Increased[rarediseases.info.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • 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: Fetus Small for Gestational Age

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