Possible Causes for intelligence is normal Mucopolysaccharidosis Type 4 The intelligence is normal. (In other words, there is no tendency to mental retardation.) [medicinenet.com] Intelligence is normal. [orpha.net] There is no central nervous system involvement in Morquio type B disease and intelligence is normal. [themedicalbiochemistrypage.org] RAPADILINO Syndrome intelligence. [archivesofrheumatology.org] Neurologic, cognitive milestones and intelligence were normal. The cytogenetic work-up did not show any anomaly. [moh-it.pure.elsevier.com] We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of [ncbi.nlm.nih.gov] Osteoglophonic Dwarfism Intelligence was normal and there were no systemic ramifications. The term "osteoglophonic dwarfism" is a succinct and apt designation for this remarkable disorder. [ncbi.nlm.nih.gov] Intelligence was normal and there were no systemic ramifications. The term “osteoglophonic dwarfism” is a succinct and apt designation for this remarkable disorder. [link.springer.com] Saethre-Chotzen Syndrome Intelligence is normal in most, but mild to severe developmental delay has been reported. [orpha.net] Gorlin-Chaudhry-Moss Syndrome […] ductus arteriosus-normal intelligence syndrome, craniofacial dysostosis-genital, dental, cardiac anomalies syndrome, MOVED to 612289, craniofacial dysostosis, hypertrichosis [monarchinitiative.org] Some individuals with Gorlin-Chaudhry-Moss syndrome have mild developmental delay but intelligence is usually normal in this disorder, as is life expectancy. [ghr.nlm.nih.gov] intelligence. [ncbi.nlm.nih.gov] Arthrogryposis Multiplex Congenita Intelligence is typically normal except when the arthrogryposis is caused by a disorder or syndrome that also affects intelligence. Diagnosis is clinical. [msdmanuals.com] As noted, some children may have primary CNS dysfunction, but intelligence is usually unimpaired. [merckmanuals.com] In distal arthrogryposes visceral anomalies are absent and intelligence is normal. Another form of type 1 DA is caused by mutation in the MYBPC1 gene ( DA1B ). [bredagenetics.com] Parietal Foramina with Cleidocranial Dysplasia Intelligence is normal. Sequence similarities Belongs to the Msh homeobox family. Contains 1 homeobox DNA-binding domain. Cellular localization Nucleus. [abcam.com] Intelligence is normal. 配列類似性 Belongs to the Msh homeobox family. Contains 1 homeobox DNA-binding domain. 細胞内局在 Nucleus. [abcam.co.jp] Intelligence is normal. {ECO:0000269 PubMed:23918290, ECO:0000269 PubMed:23949913, ECO:0000269 PubMed:8106171}. [genecards.org] Mucopolysaccharidosis Type 6 Intelligence is normal, but the lifespan is greatly shortened; affected persons seldom survive beyond age 20. [britannica.com] […] usually normal. [glosbe.com] […] the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence [glosbe.com] Arthrogryposis Syndrome Intelligence is normal. Scoliosis often develops by five years of age. Escobar syndrome is an autosomal recessive condition. [pediatricneuro.com] Intelligence is typically normal except when the arthrogryposis is caused by a disorder or syndrome that also affects intelligence. Diagnosis is clinical. [merckmanuals.com] A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence. 3. [icd10data.com] Mucopolysaccharidosis Type 4A Intelligence is normal; no CNS involvement, except where skeletal changes compress anatomic structures and cause neurologic complications. [medical-dictionary.thefreedictionary.com] Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. [uniprot.org] Achondroplasia intelligence and normal lifespan. [chop.edu] Patients are of normal intelligence with normal motor function. However, they may have specific neurologic deficits. [radiopaedia.org] […] hearing loss Delayed developmental milestones, such as walking (which may occur between 18 to 24 months instead of around one year of age) People with achondroplasia have normal [chop.edu] Pelviscapular Dysplasia Intelligence may vary from normal to moderately impaired. [malacards.org] Intelligence may vary from normal to moderately delayed. [malacards.org] Kenny-Caffey Syndrome Type 1 Intelligence is normal. Genetics Several heterozygous mutations in the FAM111A gene (11q12.1) have been found. [disorders.eyes.arizona.edu] Intelligence is normal. 4. TYPES TYPE 2 KENNY CAFFEY SYNDROME : Caused by mutation in the FAM111A gene ; it is inherited in an AUTOSOMAL DOMINANT FASHION. [slideshare.net] Pseudoachondroplasia Systemic examination and intelligence were normal [Figure 1a]. [ijoonline.com] Developmental milestones and intelligence are normal. [ommbid.mhmedical.com] Systemic examination and intelligence were normal [Figure 1b]. The parents were of normal height and intelligence. They, however, had a consanguineous marriage. [ijoonline.com] Cystitis Intelligence is typically normal. [ncbi.nlm.nih.gov] Affected patients have normal intelligence. [ncbi.nlm.nih.gov] Intelligence is normal. Joint pain in the knees and hips is common and may limit physical activity. [ncbi.nlm.nih.gov] Cole-Carpenter Syndrome Intelligence is normal, however. [disorders.eyes.arizona.edu] Intelligence is reported to be normal. [bone-abstracts.org] They were reported to be of normal intelligence. [bone-abstracts.org] Mucopolysaccharidosis Type 1 The skeletal changes are similar to radiographic findings of Hurler syndrome and intelligence is normal. [news-medical.net] […] are normal (Natowicz et al. 1996, Triggs-Raine et al. 1999). [reactome.org] Scheie Syndrome: The attenuated form of MPS I is characterized by normal intelligence, usually normal height, and milder physical problems than Hurler-Scheie. [biomarin.com] Mucopolysaccharidosis The skeletal changes are similar to radiographic findings of Hurler syndrome and intelligence is normal. [news-medical.net] However, in mild cases, intelligence remains normal, stature is almost normal and death usually occurs due to cardiac failure in the fourth decade of life. [karger.com] Intelligence is normal unless hydrocephalus develops and is not treated. [en.wikipedia.org] Familial Developmental Dysphasia Hearing and intelligence are normal. [orpha.net] Hearing and intelligence are normal. Inheritance is autosomal dominant with full penetrance. [ncbi.nlm.nih.gov] Nonverbal intelligence is normal. 70% have hyperactivity, impulsivity, oppositional, or other behavioral problems. [hawaii.edu] Autosomal-Recessive Robinow Syndrome intelligence in most cases, and adequate sexual functioning and reproduction, [2] the prognosis for Robinow syndrome is good. :: References 1. [jpgmonline.com] Intelligence is normal in most cases although some degree of mental retardation occurs in few (20%). [cags.org.ae] Over 80% of the children with the disorder have normal intelligence and can take part in normal daily activities. [hxbenefit.com] Arthrogryposis due to Muscular Dystrophy Intelligence is typically normal except when the arthrogryposis is caused by a disorder or syndrome that also affects intelligence. Diagnosis is clinical. [msdmanuals.com] The intelligence is normal to above normal in children with amyoplasia. [monsterologist.blogspot.com] […] is normal to above normal in children with amyoplasia, [4] but it is not known how many of these children have an above normal intelligence, and there is no literature available [en.wikipedia.org] Growth Failure The head circumference of 31 children with growth failure and normal intelligence was normal for age and sex, therefore disproving the concept that the abnormally small child [pediatrics.aappublications.org] Mortality/Morbidity Short stature has been thought to have far-reaching effects on psychological well-being, including poor academic achievement (despite normal intelligence [emedicine.medscape.com] intelligence, downward curvature of the corner of the mouth, syndactyly, cafe-au-fait spots, cryptorchidism. etc. [jiaomr.in] Parastremmatic Dwarfism Heart, eyes and intelligence are normal. [medical-dictionary.thefreedictionary.com] Spondyloepimetaphyseal Dysplasia Type SPONASTRIME Intelligence was normal. A clinical evaluation at 6 years of age suggested the diagnosis of spondyloepiphyseal dysplasia (SED). [ncbi.nlm.nih.gov] Common features are short-limb dwarfism, minor craniofacial anomalies, and normal intelligence. [accessanesthesiology.mhmedical.com] Normal intelligence. Autosomal recessive. Clinical and radiological features. Radiological features may change with age. [accessanesthesiology.mhmedical.com] Bencze Syndrome With the exception of one patient who had other abnormalities, intelligence was normal. [ncbi.nlm.nih.gov] Intelligence in this latter family reportedly was normal. [accessanesthesiology.mhmedical.com] Geleophysic Dysplasia Behavior, development, and intelligence were normal. [ncbi.nlm.nih.gov] intelligence. [ncbi.nlm.nih.gov] […] on a girl with severe growth retardation, characteristic facies, short stubby hands and feet, progressive joint stiffness, mild aortic and mitral valve insufficiency, and normal [ncbi.nlm.nih.gov] Branchio-Oculo-Facial Syndrome Intelligence is normal, but speech is hypernasal. Growth continues after birth, but stays between the third and fifth percentile. [orpha.net] Pseudo-Hurler Polydystrophy Patients with ML III are generally of normal intelligence (trait) or have only mild mental retardation. [en.wikipedia.org] Neurogenic Arthrogryposis Multiplex Congenita Intelligence is normal. [orpha.net] In a child with normal intelligence, with appropriate treatment, independent ambulation and function can be expected. [orthoseek.com] […] sensations The contractures in the joints are sometimes resulting in a reduced walking development in the first years The intelligence is normal to above normal in children [pediascape.org] Congenital Merosin-Positive Muscular Dystrophy All patients had normal intelligence, normal computed tomography (CT) scans of the brain and normal somatosensory evoked potentials (SEP). [ncbi.nlm.nih.gov] The rate of insulin resistance is increased and intelligence is normal. Serum CK is usually normal. [academlib.com] The third patient, a 15-year-old ambulant male with normal intelligence and complex partial seizures, had polymicrogyria of both temporoparietal lobes on brain MRI. [ncbi.nlm.nih.gov]
