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714 Possible Causes for Round Face in Infancy, Short Stature, Tall, Broad Forehead

  • Weaver Syndrome

    […] multiple systems Q87.0 Congenital malformation syndromes predominantly affecting facial appearance Q87.1 Congenital malformation syndromes predominantly associated with short[icd10data.com] However, tall stature is very common, reported in 90% of affected individuals.[zora.uzh.ch] The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed[ncbi.nlm.nih.gov] In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia[ncbi.nlm.nih.gov]

  • XXXXY Syndrome

    Both boys are mentally retarded with short stature, muscular hypotonia, and hypogonadism.[ncbi.nlm.nih.gov] face in infancy,(Look very much like a cherub) coarse features in older age, hypertelorism, epicanthal folds, prognathism, gynecomastia (rare), congenital heart defects ([web.archive.org] While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes[genetic.org] Physical examination revealed: hypotonia, broad forehead and nasal bridge, hypertelorism, epicanthic folds, rotated left ear, lack of teeth, short neck, sloping shoulders,[endocrine-abstracts.org]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    MalaCards based summary : Disproportionate Short Stature with Ptosis and Valvular Heart Lesions, is also known as short stature-valvular heart disease-characteristic facies[malacards.org] 50–65 ASD, VSD, PDA, LSVC, aortic atresia, dextrocardia, TOF, tricuspid atresia 22, 154 Deletion 5p (cri-du-chat) Catlike cry, prenatal and postnatal growth retardation, round[circ.ahajournals.org] Common causes of tall stature include familial tall stature, obesity, Klinefelter syndrome, Marfan syndrome, and precocious puberty.[aafp.org] forehead, posteriorly angulated ears, long philtrum, thin upper lip, high arched palate, and a small mandible.[wwww.unboundmedicine.com]

  • Sotos Syndrome

    Our findings provide evidence for the existence of a novel syndrome of short stature, microcephaly, delayed bone development, speech delay and mild or absent facial dysmorphism[ncbi.nlm.nih.gov] In infancy, the face is round with disproportionate prominence of forehead and become longer in adolescence, with prominence of the pointed chin.[ncbi.nlm.nih.gov] A three-year-old boy with a rare genetic disorder is one of Britain's tallest toddlers and stands at four foot tall.[huffingtonpost.co.uk] The characteristic facial gestalt is most recognizable between the ages of one and six and consists of a long, thin face with down-slanting palpebral fissures, a broad forehead[genedx.com]

  • Growth Failure

    Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[ncbi.nlm.nih.gov] Describe when treatment is indicated for children with short and tall stature.[pedsinreview.aappublications.org] NSD1 variants cause Sotos syndrome (MIM 117550), associated with increased growth, an intellectual disability and a characteristic facial appearance with a broad forehead,[frontiersin.org] […] protruding forehead* low-set, posteriorly rotated &/or prominent ears clinodactyly (inward curving) of the 5th finger (pinky)* syndactyly (webbing) of the 2nd and 3rd toes[magicfoundation.org]

    Missing: Round Face in Infancy
  • Barth Syndrome

    Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia.[ncbi.nlm.nih.gov] In early childhood, the face is round with full cheeks and an overall “cherubic” appearance (see Figure 8 ), whereas after the first decade and especially after puberty, the[ncbi.nlm.nih.gov] In a study of boys [6] with Barth syndrome , characteristic facial dysmorphology, such as tall and broad forehead, prominent chin, full cheeks, large ears and deep-set eyes[journals.lww.com] forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org]

  • Goldberg-Shprintzen Syndrome

    Key overlapping features with Baraitser-Winter syndrome include intellectual disability, microcephaly, congenital ptosis, high-arched eyebrows, ocular coloboma and short stature[orpha.net] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] The traits of Shprintzen-Goldberg syndrome are similar to the traits of Marfan syndrome and include: A tall, lanky body with increased joint mobility, scoliosis, long flat[stlouischildrens.org] One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias[diseaseinfosearch.org]

  • Osteogenesis Imperfecta Type 13

    The most common congenital skeletal dysplasias are achondroplasia, osteogenesis imperfecta (OI), and thanatophoric dysplasia (TD).[de.slideshare.net] Today Bella is 15 pounds and 25 inches tall. She is not yet able to walk, but she gets around by scooting on her bottom. Hope – it’s in Bella’s genes![globalgenes.org] He had off-white sclerae, ligamentous laxity and was relatively tall (91st percentile). Management: Both had normal bone biochemistry (including 25OH-vitamin D).[bone-abstracts.org] At that time, he was 99.6 cm (75-90 th percentile) tall, and weighed 15.6 kg (50-75 th percentile).[raredisorders.imedpub.com]

    Missing: Round Face in Infancy
  • Atkin Syndrome

    stature, macrocephaly, and characteristic facies.[malacards.org] Prominent median palatal raphe Prominent central ridge on roof of the mouth 0002708 Scoliosis Abnormal curving of the spine 0002650 Seizures Seizure 0001250 Short palm 0004279 Tall[rarediseases.info.nih.gov] forehead Supraorbital ridges Wide-set eyes Broad nose tip Anteverted nostrils Small jaw Thick lips Prominent eyebrows Short stature Large head Obesity Large testes Gap in[checkorphan.org] […] for information on rare diseases and orphan drugs.Orpha Number: 1193Disease definitionAtkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short[malacards.org]

    Missing: Round Face in Infancy
  • Mowat-Wilson Syndrome

    Patients can show a variety of other anomalies like short stature, microcephaly, Hirschsprung disease, malformations of the brain, seizures, congenital heart defects and urogenital[ncbi.nlm.nih.gov] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] Microcephaly with or without short stature occurs in many disorders; Sotos syndrome is the only condition with overgrowth features (tall stature and macrocephaly).[childnervoussystem.blogspot.com] Common features include a high forehead, broad eyebrows that are wide apart centrally, widely spaced eyes (hypertelorism) that are large and deep set, uplifted ear lobes with[rarediseases.org]

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