Disability) Source: Atlas of X-Linked Intellectual Disability Syndromes (2 ed.) [m.oxfordmedicine.com]

Homepage Rare diseases Search Search for a rare disease X-linked skeletal dysplasia-intellectual disability syndrome Disease definition Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic [orpha.net]

disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability [se-atlas.de]

Intellectual Disability Intellectual disability, autosomal recessive Intellectual Disability Intellectual disability, syndromal Intellectual Disability Intellectual disability, X-linked Intellectual Disability Joubert syndrome Intellectual Disability [genomediagnosticsnijmegen.nl]

Developmental Disabilities/genetics* Dysostoses/diagnosis Dysostoses/genetics Facies Female Gene Deletion Gene Expression Gene Order Genetic Association Studies Humans Intellectual Disability/diagnosis Intellectual Disability/genetics Male Mutation* [zfin.org]

Homepage Rare diseases Search Search for a rare disease X-linked skeletal dysplasia-intellectual disability syndrome Disease definition Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic [orpha.net]

Idiopathic short stature (50% of cases) [ 8 ] includes familial short stature, non‐familial short stature and constitutional growth and puberty delay. [intechopen.com]

Return to Contents Causes of Short Stature in Children There are multiple causes of short stature. The most common causes are familial short stature (FSS) and constitutional growth delay (CGD). [archive.ahrq.gov]

[…] of patients with short stature. [academic.oup.com]

Comprehensive Short Stature Syndrome Panel ICD-10 Disease Q87.1 3-M syndrome Q87.1 Seckel syndrome Q87.1 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) Q87.1 Jawad syndrome Q87.1 Short stature and associated syndromes Q87.1 Microcephalic [blueprintgenetics.com]

Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.com]

For instance, our multidisciplinary team includes eye physicians (ophthalmologists) for patients with neurofibromatosis, heart doctors (cardiologists) for those with Marfan syndrome and orthopaedic physicians for children with skeletal dysplasias. [luriechildrens.org]

We accept referrals from physicians and other health care providers. [cheo.on.ca]

Physical appearance is often enough to alert a physician to the child’s dwarfism. [ortho-institute.org]

Am Fam Physician. 2007;76(3):405–410. 14. Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. [aafp.org]

[…] disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar [se-atlas.de]

All these mutations are associated with phenotypes extending from malformation and lethality to severe intellectual disability, epilepsy, minor dysmorphisms, and high levels of ALP. [iofbonehealth.org]

Clinicopathological spectrum Neurological manifestations Cognitive disability and epilepsy are the most common neurological manifestations 8. [radiopaedia.org]

(WES) Neurological Epilepsy with neurodevelopmental defects (EPND) Neurological Epilepsy, Idiopathic Neurological Epilepsy, myoclonic Neurological Episodic ataxia Neurological Episodic kinesigenic dyskinesia Neurological Episodic pain syndrome Neurological [genomediagnosticsnijmegen.nl]

The misdiagnosis of epilepsy in people with intellectual disabilities: a systematic review. Seizure. 2011;20(2):101-6. [medicalhomeportal.org]

May cause a child to have weak muscles, dental problems, flat feet, or bowed (curved) legs. Spondyloepiphyseal dysplasia congenita (SEDc) Affects the bones in the spine, legs, and arms. May cause problems with vision and hearing. [ortho-institute.org]

crawling, walking, sitting), displacement of the lens of the eye (ectopia lentis), abnormal thinning and weakness of the bones (osteoporosis and scoliosis ), and/or the formation of blood clots (thrombi) in various veins and arteries that may lead [apraxia-kids.org]

This causes pain and weakness in your child’s arms and legs. It may also cause breathing trouble. In these cases, you and your child’s doctor may consider surgery to open up the spinal canal to take pressure off the spinal cord and nerves. [seattlechildrens.org]

The one paper that evaluated osteogenesis imperfecta found substantial muscle weakness in children who are moderately to severely affected by their disease. [archive.ahrq.gov]

This process helps identify learning challenges, describe communication styles, and summarize a child’s strengths and weaknesses for the purpose of formulating a diagnosis and implementing modifications/interventions. [medicalhomeportal.org]

Hearing impairment Sotos syndrome Hearing impairment Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment Wolfram syndrome (DIDMOAD) [genomediagnosticsnijmegen.nl]

A child with KBG syndrome may also be of short stature, have speech and hearing impairments, and/or have mild to moderate levels of intellectual disability. [rarediseases.org]

The results for hearing impairment, respiratory dysfunction, and spinal curvature appear to indicate an increased risk for impairment in these three areas, but the studies were limited in the number of children evaluated and how the samples were selected [archive.ahrq.gov]

However, the hearing impairment is much more important. [intechopen.com]

University Press Scholarship Online Search Atlas of X-Linked Intellectual Disability Syndromes » (p. 59) Christian Syndrome: (X-Linked Skeletal Dysplasia-Intellectual Disability) Chapter: (p. 59) Christian Syndrome: (X-Linked Skeletal Dysplasia-Intellectual [m.oxfordmedicine.com]

Homepage Rare diseases Search Search for a rare disease X-linked skeletal dysplasia-intellectual disability syndrome Disease definition Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic [orpha.net]

Diagnosis - Pierre Robin syndrome skeletal dysplasia polydactyly Not supplied. Prognosis - Pierre Robin syndrome skeletal dysplasia polydactyly Not supplied. Treatment - Pierre Robin syndrome skeletal dysplasia polydactyly Not supplied. [checkorphan.org]

Skeletal dysplasias are a complex group of bone and cartilage disorders that may affect the fetal skeleton as it develops in utero. As a whole, skeletal dysplasias are not common. [chop.edu]

Neuromuscular Brody myopathy Neuromuscular Central Core Disease Neuromuscular Centronuclear myopathy Neuromuscular Congenital myopathy Neuromuscular Core myopathy Neuromuscular Fibrosis of extraocular muscles, congenital Neuromuscular Hyperkalemic periodic [genomediagnosticsnijmegen.nl]

[…] type 2 CEP57 Mulibrey nanism TRIM37 Multiple congenital anomalies-hypotonia-seizures syndrome type 1 PIGN Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Myhre syndrome SMAD4 Native American myopathy [centogene.com]

Charcot-Marie-Tooth disease type 3 X-linked Charcot-Marie-Tooth disease type 4 X-linked Charcot-Marie-Tooth disease type 5 X-linked Charcot-Marie-Tooth disease type 6 X-linked Opitz G/BBB syndrome X-linked calvarial hyperostosis X-linked centronuclear myopathy [se-atlas.de]

Muscle biopsy and muscle respiratory chain enzymes were normal, investigations to exclude selenoprotein-related myopathy ( SEPN1-gene ) and ryanodine receptor 1 ( RYR1-gene )- related myopathy have been performed and showed no pathology. [journals.lww.com]

Stickler syndrome, type V,614284 COL9A269.70.980.91{Intervertebral disc disease, susceptibility to},603932 COL9A373.80.960.88Epiphyseal dysplasia, multiple, 3 with or without myopathy,600969 COL9A373.80.960.88{Intervertebral disc disease, susceptibility [qgenomics.com]

[…] hyperlaxity syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-pseudoglioma syndrome Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Otopalatodigital syndrome [se-atlas.de]

crawling, walking, sitting), displacement of the lens of the eye (ectopia lentis), abnormal thinning and weakness of the bones (osteoporosis and scoliosis ), and/or the formation of blood clots (thrombi) in various veins and arteries that may lead [apraxia-kids.org]

Skeletal Osteoporosis-pseudoglioma syndrome (OPPG) Skeletal Patella malformation syndrome Skeletal Polysyndactyly Skeletal Primary hypertrophic osteoarthropathy Skeletal Proximal symphalangism (SYM1) Skeletal Pycnodysostosis Skeletal Robinow syndrome [genomediagnosticsnijmegen.nl]

Bone Mineral Density Quantitative Trait Locus Osteoporosis, Involutional Osteoporosis, Postmenopausal BMND 166710 Genetic Test Registry Osteoporosis-Pseudoglioma Syndrome Osteogenesis Imperfecta, Ocular Form OPPG OPS 259770 Genetic Test Registry Otopalatodigital [ukgtn.nhs.uk]

The osteoporosis was marked. [journals.lww.com]

Can involve seizures, developmental delays, tooth or mouth problems. [apraxia-kids.org]

EEG should be performed when clinical seizures or a seizure syndrome are suspected. Skeletal survey, other imaging may be recommended as part of a genetics consultation. [medicalhomeportal.org]

Gene PGAP2 gene, 11p15.4 (OMIM gene/locus number #615187 ) Phenotype Delayed psychomotor development, severe mental retardation, intellectual disability mild (in some patients), hypotonia, seizures, disorder in sleep pattern (in some patients), cerebral [iofbonehealth.org]

[…] recessive type 11 PHC1 Microcephaly, autosomal recessive type 12 CDK6 Microcephaly, autosomal recessive type 13 CENPE Microcephaly, CEP63 related CEP63 Microcephaly, MRE11A related MRE11A Microcephaly, MSMO1 related MSMO1 Microcephaly, progressive, seizures [centogene.com]

It is characterized by seizures and the appearance of nodules lining the margins of the lateral cerebral ventricles. These nodules are formed as a failure in neuronal migration into the cerebral cortex. [egl-eurofins.com]

[…] isolated vitamin E deficiency (AVED) Neurological Ataxia and oculomotor apraxia Neurological Ataxia-telangiectasia-like disorder Neurological Ataxia, spastic, autosomal recessive Neurological Basal ganglia calcification, idiopathic Neurological Basilar [genomediagnosticsnijmegen.nl]

[…] disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar [se-atlas.de]

The severity of the resulting ataxia (uncoordinated movements) varies from person to person. Decreased muscle tone is common in children with Joubert syndrome. [apraxia-kids.org]

Cardiovascular disease H01731 Fragile X tremor/ataxia syndrome Fragile X tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation CGG repeat expansions (range: 55-200) in the fragile X mental retardation 1 (FMR1 [kegg.jp]

Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly SRTD8 615503 Genetic Test Registry Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly Conorenal Syndrome Mainzer-Saldino Syndrome Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia [ukgtn.nhs.uk]

[…] hypoplasia Cataract-deafness-hypogonadism syndrome Cataract-hypertrichosis-intellectual disability syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disability-hypogonadism syndrome Cataract-nephropathy-encephalopathy [se-atlas.de]

[…] disorder of glycosylation Intellectual Disability Cornelia de Lange syndrome Intellectual Disability Costello syndrome Intellectual Disability Cowden syndrome Intellectual Disability Donnai-Barrow syndrome Intellectual Disability Early infantile epileptic encephalopathy [genomediagnosticsnijmegen.nl]

Dominant Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Osteosclerosis, Autosomal Dominant 144750 Genetic Test Registry Epilepsy, Idiopathic Generalized, Susceptibility To, 8 EIG8 612899 Genetic Test Registry Epileptic Encephalopathy [ukgtn.nhs.uk]

Neurological Neurodegeneration with brain iron accumulation Neurological Neuropathies (WES) Neurological Parkinson disease (WES) Neurological Parkinson's disease Neurological Paroxysmal extreme pain disorder Neurological Polymicrogyria Neurological Polyneuropathy [genomediagnosticsnijmegen.nl]

[…] type Poland syndrome Polydactyly of a biphalangeal thumb Polydactyly of a triphalangeal thumb Polydactyly of an index finger Polydactyly-myopia syndrome Polymicrogyria Polymicrogyria due to TUBB2B mutation Polymicrogyria with optic nerve hypoplasia Polyneuropathy-intellectual [se-atlas.de]

Cardiovascular disease H01731 Fragile X tremor/ataxia syndrome Fragile X tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation CGG repeat expansions (range: 55-200) in the fragile X mental retardation 1 (FMR1 [kegg.jp]

[…] kinesigenic dyskinesia Neurological Episodic pain syndrome Neurological Erythermalgia, primary or idiopathic Neurological Familial infantile convulsions with paroxysmal choreoathetosis Neurological Febrile seizures Neurological Fragile-X associated tremor [genomediagnosticsnijmegen.nl]