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675 Possible Causes for Delayed Speech and Language Development, Enamel Hypoplasia, Failure to Thrive, Short Stature in Children

  • Mucopolysaccharidosis

    Enamel hypoplasia was observed only in patients with MPS IVA (p CONCLUSIONS: Enamel hypoplasia was observed only in patients with MPS IVA, whereas anterior open bite was observed[ncbi.nlm.nih.gov] Many children develop a short body trunk and a maximum stature of less than 4 feet.[en.wikipedia.org] […] multiorgan deterioration that includes hepatosplenomegaly, dysostosis multiplex, short stature, coarse facial features, corneal clouding, joint contractures, umbilical hernias, failure[surgicalneurologyint.com] Only 2 pathogenic variants have been reported for the HYAL1 gene: Missense mutation c.802G A; p.E268K reported in association with short stature phenotype 35 Small deletion[centogene.com]

  • SHORT Syndrome

    Delayed dentition, hypodontia, enamel hypoplasia, malocclusion and multiple dental caries are frequently reported. Ophthalmic anomalies (e.g.[orpha.net] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] Expressive language, grammar, and speech clarity: Because of delays in developing language comprehension, most children with Down syndrome are slow to master correct sentence[verywellhealth.com] hypoplasia, [4] and overcrowded teeth. [5] Cardiac defects include pulmonary stenosis and ventricular septal defects. [6] Intelligence is reported as normal or in the mildly[jmgims.co.in]

  • Williams Syndrome

    They also present with epicanthal folds, microdontia, malocclusion, enamel hypoplasia, dental aplasia, and fan-shaped orientation of the front teeth (Leung & Leung, 2009).[smartspeechtherapy.com] , which is likely to constrain subsequent language development.[ncbi.nlm.nih.gov] The seizure returned, and he was found to have elfin face, failure-to-thrive, developmental delay, and dental malformation in addition to congenital heart defects.[ncbi.nlm.nih.gov] Despite multiple medical problems in infancy, including feeding problems, failure to thrive, colic, and otitis media, mean age at diagnosis was 6.4 years.[ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    hypoplasia on the molars of Paranthropus robustus".[en.wikipedia.org] Short stature and short hands and feet are typical of PWS. Growth retardation is common and such children fail to thrive.[symptoma.com] Speech and language therapy during childhood will help with impaired speech and delay in developing language.[yourhormones.info] Prader-Willi syndrome (PWS) is characterized by infantile lethargy and hypotonia causing poor feeding and failure to thrive, childhood obesity, short stature, and hypogonadism[ncbi.nlm.nih.gov]

  • Singleton Merten Syndrome

    主要主题词: Aortic Diseases; DEAD-box RNA Helicases; Dental Enamel Hypoplasia; Glaucoma; Metacarpus; Models, Molecular; Muscular Diseases; Odontodysplasia; Osteoporosis; Vascular[paper.medlive.cn] speech and language development Narrow chest Aortic arch calcification Hypermetropia Pes planus Macrocephaly Proptosis Chylothorax Hydrops fetalis Redundant skin Vasculitis[mendelian.co] Patients often present with muscular weakness, failure to thrive, abnormal dentition, glaucoma, psoriatic skin lesions, aortic calcification and musculoskeletal abnormalities[ncbi.nlm.nih.gov] (focal dermal hypoplasia) (hypodontia; enamel hypoplasia; delayed eruption; malformed teeth; irregular placement) 23. Hajdu-Cheney S.[gamuts.isradiology.org]

  • Hallermann Syndrome

    hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the[orpha.net] Children often appear petite and short in stature. Developmental delays are common but most individuals have normal or near-normal intelligence.[disorders.eyes.arizona.edu] She had a history of severe snoring, reported nocturnal apnea, excessive daytime hypersomnolence, nocturnal enuresis, and failure to thrive.[ncbi.nlm.nih.gov] Children appear petite and are often short in stature. Scalp hair is thin, especially in the frontal and occipital areas, and the skin is atrophic.[disorders.eyes.arizona.edu]

    Missing: Delayed Speech and Language Development
  • Cri Du Chat Syndrome

    The main orofacial anomalies registered were mandibular microretrognathia, high palate but rarely cleft, variable malocclusion (frequently anterior open-bite), enamel hypoplasia[ncbi.nlm.nih.gov] Babies Characteristic high pitched cry at birth Low birth weight Poor muscle tone Developmental delay Small head Round "moon" face Children Small thin build and short stature[members.tripod.com] In general, individuals have delayed speech and language development, and some never develop spoken language.[ncbi.nlm.nih.gov] […] by a cat-like cry, failure to thrive, microcephaly, mental retardation, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism,[icd9data.com]

  • Bloom Syndrome

    In addition, Jacobs et al. described for the first time peripheral avascularity with fluorescein angiography in 2012 [ 42 ]; dental problems: talon cusps (73%), enamel hypoplasia[ijponline.biomedcentral.com] It is marked by growth retardation, microcephaly, short stature, characteristic facial features, skin eruptions, and mild to severe mental retardation [ 1 ].[ncbi.nlm.nih.gov] Speech and language is usually delayed, with continuing speech difficulties. About 20% of children develop epilepsy but this is usually well controlled by medication.[intellectualdisability.info] […] to thrive in infancy Very short stature Very small head Skin telangiectasias (spidery veins visible near the surface of the skin) Café au lait spots on the skin (see photo[forgottendiseases.org]

  • Smith-Magenis Syndrome

    Clinical findings in this patient include: developmental delay, facial dysmorphism, enamel hypoplasia, short broad hands, clinodactyly, and scoliosis.[ncbi.nlm.nih.gov] stature curved spine ( scoliosis ) hoarse voice myopia ( short-sightedness ) flat feet.[raisingchildren.net.au] development Language development deficit Language delayed Language delay Impaired speech development Impaired speech and language development Delayed speech development Delayed[rarediseases.info.nih.gov] In infancy there are feeding problems, failure to thrive, hypotonia (floppiness), prolonged napping and lethargy.[medicinenet.com]

  • Velocardiofacial Syndrome

    hypoplasia), learning problems and/or psychiatric disorders (attention deficit hyperactivity disorder, schizophrenia).[orpha.net] staturechildren and adults may be shorter than average mental health problems – adults are more likely to have problems such as schizophrenia and anxiety disorders Causes[nhs.uk] […] or language disorder 759.8 Other specified anomalies 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS References McDonald-McGinn,[genedx.com] Poor feeding and failure to thrive may result secondary to severe cardiac anomalies and congestive cardiac failure.[symptoma.com]

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