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275 Possible Causes for Delayed Speech and Language Development, Joint Contracture, Round Face

  • Mucopolysaccharidosis 2

    Major clinical manifestations include joint contractures, obstructive and restrictive airway disease, cardiac disease, skeletal deformities and often mental retardation.[ingentaconnect.com] […] 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] contractures.[secure.ssa.gov]

  • Mucopolysaccharidosis

    Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[ncbi.nlm.nih.gov] contractures, and funnel chest.[ncbi.nlm.nih.gov] Majority of the patients had joint contractures, severe intellectual disability, error of refraction, hearing loss and valvular regurgitation on subspecialists' evaluation[ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    contractures, and a particularly high prevalence of autism spectrum disorder (up to 75% of affected individuals).[mdpi.com] Speech and language therapy during childhood will help with impaired speech and delay in developing language.[yourhormones.info] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com]

  • Geleophysic Dysplasia

    Geleophysic dysplasia is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs, brachydactyly, and joint contractures.[ncbi.nlm.nih.gov] She has severe speech and language delays, she's diagnosed of having dyspraxia with abnormal phonetation & major sentence structure errors, She's functioning about 5 years[angelfire.com] face with full cheeks.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy Type Ullrich

    contractures, marked hypermobility of the distal joints and normal intelligence Ullrich scleroatonic muscular dystrophy Ullrich disease UCMD Scleroatonic Ullrich Disease[wikidata.org] speech and language development Recurrent respiratory infections Dry skin Congenital contracture Weak cry Overweight Gastrostomy tube feeding in infancy Lumbar scoliosis[mendelian.co] Some individuals with Ullrich CMD may have a distinctive facial appearance with a rounded face with prominent ears.[rarediseases.org]

  • Neuhauser Syndrome

    Contractures, and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Mental Retardation, Skeletal Dysplasia, and Abducens Palsy[rgd.mcw.edu] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[omim.org]

  • Pallister W Syndrome

    contracture of the hand 0009473 Radial deviation of finger 0009466 Seizures Seizure 0001250 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased[rarediseases.info.nih.gov] face and developmental delay syndrome (disorder) {715987000, SNOMED-CT } Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) {722389002,[phinvads.cdc.gov] Children have a round face, with wide eyebrows and mild synophrys, hypertelorism, a prominent and high nasal bridge with anteverted nostrils, a long philtrum and a thin upper[ojrd.biomedcentral.com]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    [from OMIM ] Arthrogryposis multiplex congenita MedGen UID: 2455 • Concept ID: C0003886 • Finding A non-progressive finding characterized by multiple joint contractures found[ncbi.nlm.nih.gov] Cerebral atrophy Delayed speech and language development Clonus Gliosis Myoclonus Death in infancy Polyhydramnios Cerebellar hypoplasia Neuronal loss in central nervous system[mendelian.co] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de]

  • Congenital Malformation of the Knee Joint

    Arthrogryposis is a congenital disorder characterized by multiple joint contractures found throughout the body at birth.[ingentaconnect.com] Obesity, Global developmental delay, Seizures, Short stature, Genu valgum, Deeply set eye, Dysarthria, Delayed speech and language development, Specific learning disability[ncbi.nlm.nih.gov] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de]

  • Dubowitz Syndrome

    Scoliosis and joint contractures are also extremely common.[emedicine.medscape.com] 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]

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