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311 Possible Causes for Delayed Speech and Language Development, Multiple Congenital Anomalies, Round Face

  • Prader-Willi Syndrome

    Speech and language therapy during childhood will help with impaired speech and delay in developing language.[yourhormones.info] Birth defects are also called congenital anomalies.[en.wikipedia.org] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com]

  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Coarsening of facial features – the result of macroglossia, prominent supraorbital ridges, a broad nose, a broad nasal bridge, and deposition of GAG in the soft tissues of the face[ncbi.nlm.nih.gov]

  • Cri Du Chat Syndrome

    In general, individuals have delayed speech and language development, and some never develop spoken language.[ncbi.nlm.nih.gov] It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure An infantile syndrome characterized[icd9data.com] A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high-pitched mewing cry characteristic of cri[ncbi.nlm.nih.gov]

  • Dubowitz Syndrome

    speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com]

  • Trisomy X Syndrome

    speech and language development, and difficulty reading Delayed motor skills, such as sitting and walking Problems processing sound Behavioral and emotional problems, including[everydayhealth.com] Affected individuals also have distinctive facial features, including widely set eyes, low-set ears, a small jaw and a rounded face.[igeneprenataltest.com] While it causes no unique physical features, it may lead to learning disability, as well as delayed speech/language and motor development.[patientslikeme.com]

  • XXXXY Syndrome

    language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay[rarediseases.info.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] A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia[ncbi.nlm.nih.gov]

  • Wiedemann-Steiner Syndrome

    speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov] Polydactyly Sacral dimple Syndactyly Stereotypy Abnormality of the skeletal system Short palpebral fissure Hearing impairment Round face Highly arched eyebrow Dysphagia Long[mendelian.co] These findings define the genetic basis of WSS, provide additional evidence for the role of haploinsufficency of histone-modification enzymes in multiple-congenital-anomaly[ncbi.nlm.nih.gov]

  • Chromosome 18p Deletion Syndrome

    Speech/Language delay Mostly all individuals with 9p deletions have a significant speech and language delay.[9pminus.org] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org] United Arab Emirates El Kalla et al. (1992) reported the case of an infant with multiple congenital anomalies, and tetralogy of Fallot.[cags.org.ae]

  • Emanuel Syndrome

    […] and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech[rarediseases.info.nih.gov] While babies with Emanuel syndrome typically have round faces and prominent foreheads, individuals tend to develop characteristically pinched features as they age.[medicaldaily.com] Multiple congenital anomalies and craniofacial dysmorphism are characterizing the so-called Emanuel or supernumerary der(22)t(11;22) syndrome (OMIM609029).[ncbi.nlm.nih.gov]

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