Presentation
Symptoms are present at birth and the disease causes death early in childhood. The X-ALD form presenting in childhood leads to complete disability and death by the teenage years. [childneurologyfoundation.org]
Patients reported with this syndrome also present renal dysplasia and cerebellar ataxia which were absent in our case [Mainzer et al., 1970; Giedion, 1979]. [vdocuments.net]
[…] the humerus and to a lesser degree the femur (rhizomelia), punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata, or CDP), coronal clefts of the vertebral bodies, and cataracts that are usually present [quizlet.com]
Optic atrophy is present and vision may be reduced to light perception but nystagmus is absent. Evidence suggests that vision loss is progressive. Some patients have extensive posterior synechiae while others have been noted to have sluggish pupils. [disorders.eyes.arizona.edu]
In family 2, patient A333b was also found to bear the same PCYT1A variants present in her sister A333a whereas each of the two parents was heterozygous carrier of only one of them. [nature.com]
Entire Body System
- Anemia
7) RPL35A (Diamond-Blackfan anemia 5) RPL5 (Diamond-Blackfan anemia 6) RPS10 (Diamond-Blackfan anemia 9) RPS17 (Diamond-Blackfan anemia 4) RPS19 (Diamond-Blackfan anemia 1) RPS24 (Diamond-blackfan anemia) RPS26 (Diamond-Blackfan anemia 10) RPS6KA3 (Coffin-Lowry [en.praenatal-medizin.de]
Retinitis Pigmentosa 9 5124 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism 5125 Retinitis pigmentosa-deafness syndrome 5126 Retinobl as toma 5127 Retinochoroidal coloboma 5128 Retinohepatoendocrinologic syndrome 5129 Retinopathy anemia [yumpu.com]
1 2 Diamond-Blackfan Anemia 10 2 Diamond-Blackfan Anemia 11 2 Diamond-Blackfan Anemia 12 2 Diamond-Blackfan Anemia 3 2 Diamond-Blackfan Anemia 4 2 Diamond-Blackfan Anemia 5 2 Diamond-Blackfan Anemia 6 2 Diamond-Blackfan Anemia 7 2 Diamond-Blackfan Anemia [preventiongenetics.com]
Type C Fanconi anemia, Type G Fragile X syndrome Fructose Intolerance Galactosemia Gaucher disease Glutaric acidemia, Type I (GA I) Glutaric acidemia, Type IIA Glutaric acidemia, Type IIC Glycogen storage disease, Type IA Glycogen storage disease, Type [genpathdiagnostics.com]
RHDA2 OMIM:617805 Renal Hypodysplasia/Aplasia 3; RHDA3 OMIM:179800 Renal Tubular Acidosis, Distal, Autosomal Dominant OMIM:602722 Renal Tubular Acidosis, Distal, Autosomal Recessive; RTADR OMIM:611590 Renal Tubular Acidosis, Distal, with Hemolytic Anemia [informatics.jax.org]
- Abdominal Obesity
Obesity- Metabolic Syndrome, Abetalipoproteinemia AD,AR 100 69 of 71 MVK Mevalonic Aciduriamevalonate Kinase Deficiency AD,AR 100 180 of 181 MYO6 Autosomal Dominant and Recessive Deafness AD,AR 100 74 of 75 MYO7A Autosomal Dominant Deafness, Usher Syndrome [igenomix.es]
Skin
- Hyperkeratosis
KRT10 (Epidermolytic hyperkeratosis) KRT12 (Meesmann corneal dystrophy) KRT13 (White sponge nevus) KRT14 (Dermatopathia pigmentosa reticularis) KRT16 (Pachyonychia congenita, Jadassohn-Lewandowsky type) KRT17 (Pachyonychia congenita Jackson Lawler type [en.praenatal-medizin.de]
[…] halluces-intellectual disability syndrome Apodia Arachnodactyly-abnormal ossification-intellectual disability syndrome Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita-whistling face syndrome Arthrogryposis syndrome Arthrogryposis-hyperkeratosis [se-atlas.de]
3 2 Ichthyosis, congenital, autosomal recessive 4A 2 Ichthyosis, Congenital, Autosomal Recessive 8 1 Ichthyosis, Congenital, Autosomal Recessive 9 1 Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related 2 Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis [preventiongenetics.com]
Eyes
- Night Blindness
Blindness X,XR,G 100 – CACNA2D4 Retinal Cone Dystrophy, Cone Rod Dystrophy, Congenital Stationary Night Blindness AR 99.64 7 of 7 CC2D2A Coach Syndrome, Joubert Syndrome, Meckel Syndrome AR 99.43 98 of 100 CCDC103 Primary Ciliary Dyskinesia AR 99.92 [igenomix.es]
[…] encyclopedia of medical concepts More information in Books or on Definition : Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field. [reference.md]
Type 1B 2 Night Blindness, Congenital Stationary, Type 1C 2 Night Blindness, Congenital Stationary, Type 1D 4 Night Blindness, Congenital Stationary, Type 1E 2 Night Blindness, Congenital Stationary, Type 1F 3 Night Blindness, Congenital Stationary, [preventiongenetics.com]
blindness, congenital stationary, type 2B) CACNA1A (Episodic ataxia, type 2) CACNA1C (Brugada syndrome 3) CACNA1F (Aland Island eye disease) CACNA1S (Hypokalemic periodic paralysis type 1) CACNA2D4 (Retinal cone dystrophy 4) CACNB2 (Brugada syndrome [en.praenatal-medizin.de]
[…] heart defects A- atresia of the choanae R- retardation growth/development G- GU defects E- ear anomalies/deafness incidence: rare genetics: mutation in CHM gene X chromosome, males only pathophysiology: degeneration of the choroid and retina clinical: night [brainscape.com]
- Retinal Pigmentation
The retinal pigmentation has a typical retinitis pigmentosa picture with attenuated retinal vessels and equatorial bone spicule pigmentation located in the midperiphery while the macula can have a bull’s eye appearance. [disorders.eyes.arizona.edu]
Radioulnar synostosis retinal pigment abnormalities 0 *Growth Disorders *Intellectual Disability *Retinitis Pigmentosa *Synostosis *Facies. [reference.md]
A322 ( a ) retinography: presence of pink optic disk, widespread retinal pigment epithelium dystrophy with areas of hypo- and hyperpigmentation, normal retinal vessels; ( b ) OCT: reduced macular thickness with mild retinal pigment epithelium (RPE) dystrophy [nature.com]
Pigment Epithelium OMIM:615537 Reticulate Acropigmentation of Kitamura; RAK OMIM:312500 Reticuloendotheliosis, X-Linked OMIM:267730 Reticulum Cell Sarcoma OMIM:179900 Retinal Aplasia OMIM:614224 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic [informatics.jax.org]
Punctata Albescens, Vitelliform Macular Dystrophy, Patterned Dystrophy Of Retinal Pigment Epithelium, Retinitis Pigmentosa, Adult-Onset Foveomacular Vitelliform Dystrophy, Retinitis Punctata Albescens, Stargardt Disease AD,AR 100 188 of 188 PRPS1 Arts [igenomix.es]
- Ectopia Lentis
lentis (downwards), myopia treatment: methionine restricted diet, folate/B12 supplementation complications: thrombi, CVA, seizures genetics: XLR (only one that only affects males) incidence: RARE, 2000 worldwide pathophysiology: mucopolycsaccharidosis [brainscape.com]
lentis, isolated, autosomal recessive) ADAR (Dyschromatosis symmetrica hereditaria) ADIPOQ (Adiponectin deficiency) ADSL (Adenylosuccinase deficiency) AFF2 (Mental retardation, X-linked, FRAXE type) AGA (Aspartylglucosaminuria) AGL (Glycogen storage [en.praenatal-medizin.de]
lentis et pupillae 1 Ectopia Lentis, Isolated Autosomal Recessive 1 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 3 EDICT Syndrome 1 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 3 Ehlers-Danlos [preventiongenetics.com]
- Visual Acuity Decreased
acuity Decreased clarity of vision 0007663 Rhizomelia Disproportionately short upper portion of limb 0008905 Rod-cone dystrophy 0000510 Scoliosis Abnormal curving of the spine 0002650 Short clavicles Short collarbone 0000894 Short femoral neck Short [rarediseases.info.nih.gov]
Musculoskeletal
- Short Humerus
[…] upper portion of limb 0008905 Rod-cone dystrophy 0000510 Scoliosis Abnormal curving of the spine 0002650 Short clavicles Short collarbone 0000894 Short femoral neck Short neck of thighbone 0100864 Short humerus Short long bone of upper arm Short upper [rarediseases.info.nih.gov]
- Muscle Spasticity
Then during infancy signs and symptoms begin to appear including slowly progressing loss of skills, poor muscle tone (hypotonia) that changes with time to tight and stiff muscles (spasticity), seizures, developmental delay, intellectual disability, speech [natera.com]
Psychiatrical
- Aggressive Behavior
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive [se-atlas.de]
Face, Head & Neck
- Short Neck
Symptoms via clinical synopsis from OMIM: 58 Head And Neck Neck: short neck Chest Ribs Sternum Clavicles And Scapulae: short clavicles short ribs wide clavicles wide ribs Growth Height: short stature, postnatal Skeletal: normal bone age Skeletal Pelvis [malacards.org]
[…] upper portion of limb 0008905 Rod-cone dystrophy 0000510 Scoliosis Abnormal curving of the spine 0002650 Short clavicles Short collarbone 0000894 Short femoral neck Short neck of thighbone 0100864 Short humerus Short long bone of upper arm Short upper [rarediseases.info.nih.gov]
Symptoms - Rhizomelic dysplasia- scoliosis- and retinitis pigmentosa Scoliosis Retinitis pigmentosa Short stature Short neck Short arms Causes - Rhizomelic dysplasia- scoliosis- and retinitis pigmentosa Not supplied. [checkorphan.org]
neck, pectus excavatum, wide nipples, cubitus valgus, short, ptosis, low ears, small genitals, coag defects, MR Retinoblastoma - RB1 gene, hereditary or somatic - AR 90% penetrance - clinical: retinoblastoma, 25% of cases bilateral (always hereditary [brainscape.com]
Neurologic
- Febrile Seizures
Seizures Plus, Type 1 5 Generalized Epilepsy With Febrile Seizures Plus, Type 2 3 Generalized Epilepsy With Febrile Seizures Plus, Type 3 5 Generalized Epilepsy With Febrile Seizures Plus, Type 7 5 Generalized Epilepsy with Febrile Seizures Plus, Type [preventiongenetics.com]
Convulsions, Usher Syndrome, Generalized Epilepsy With Febrile Seizures-Plus AD,AR 97.53 – AHR Retinitis Pigmentosa AR 99.91 2 of 2 AIPL1 Leber Congenital Amaurosis, Retinitis Pigmentosa, Cone Rod Dystrophy AD,AR,X,XR,G 89 82 of 82 ALMS1 Alstrom Syndrome [igenomix.es]
seizures plus, type 3) GAD1 (Cerebral palsy, spastic, symmetric, autosomal recessive) GALC (Krabbe disease) GALE (Galactose epimerase deficiency) GALK1 (Galactokinase deficiency with cataracts) GALNS (Mucopolysaccharidosis IVA) GALNT3 (Tumoral calcinosis [en.praenatal-medizin.de]
- Abnormal Gait
Gait 3 Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 4 Merosin Deficient Congenital Muscular Dystrophy 5 Metachondromatosis 1 Metachromatic Leukodystrophy 2 Metaphyseal Anadysplasia 2 1 Metaphyseal Chondrodysplasia, Jansen Type 1 Metaphyseal [preventiongenetics.com]
Treatment
treatment articles: Treatments for Scoliosis Treatments for Retinitis Pigmentosa Causes See also causal information: Causes of Scoliosis Causes of Retinitis Pigmentosa Similar Topic Articles Rhizomelic dysplasia Scoliosis Retinitis pigmentosa • • • Note [familydiagnosis.com]
Babies with Tyrosinemia, Type 1 need lifelong dietary and medical treatments. Early treatment can help prevent the liver, kidney, and brain problems. Children who receive treatment early in life can often have healthy growth and development. [natera.com]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Treatment - Rhizomelic dysplasia- scoliosis- and retinitis pigmentosa Child Health Specialists (Pediatrics): o Pediatrics (Child Health Specialist) o Adolescent Medicine (Teen Health) o Neonatal-Perinatal Medicine o Pediatric / Adolescent Psychiatry o [checkorphan.org]
Interventions may include: Physical Therapy Occupational Therapy Speech Therapy Feeding Therapy Nutrition Vision Therapy Hearing Impairment Therapy Treatments Currently, there is no cure for PBD-ZSS and treatment is based on symptoms and palliative care [childneurologyfoundation.org]
Prognosis
Prognosis - Rhizomelic dysplasia- scoliosis- and retinitis pigmentosa Not supplied. [checkorphan.org]
Prognosis The PBD-ZSS disorders are severe disorders. Symptoms are present at birth and the disease causes death early in childhood. The X-ALD form presenting in childhood leads to complete disability and death by the teenage years. [childneurologyfoundation.org]
Multiple meningiomas and uni vestibular schwannoma OR 2 other tumours diagnosis: clinical prognosis: 40% medical problem, 50% learning problem, 6% ID, 5% morbidity definition: tumour disorder incidence: 1/100,000, no assoc sex/race defect: AD mutation [brainscape.com]
Etiology
MD) small repeats: worse from father (HD) characteristics: unstable between generations, assoc anticipation, repeat size doesn't accurately predict phenotype triplet repeat disorders: Frederich ataxia, MD, Fragile X, HD etiology: syndromic or non-syndromic [brainscape.com]
Epidemiology
Antidepressants: risk of fractures Healthcare professionals should be aware of epidemiological data showing a small increased risk of fractures associated with the use of TCAs and SSRIs, and should take this risk into account in their... [evidence.nhs.uk]
Pathophysiology
[…] people with the genotype exhibiting phenotype incomplete penetrance: condition not detected in an individual with causative genotype Achondroplasia defect: single gene mutation in FGFR3 - AD, sporadic in 80% genetic testing: single gene sequencing FGFR3 pathophysiology [brainscape.com]
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013;17(3):187-96. doi: 10.1002/ddrr.1113. [childneurologyfoundation.org]
Prevention
Prevention - Rhizomelic dysplasia- scoliosis- and retinitis pigmentosa Not supplied. Diagnosis - Rhizomelic dysplasia- scoliosis- and retinitis pigmentosa Not supplied. [checkorphan.org]
Additional interventions for prevention of chronic lung disease include pulmonary management. Therapies include physical therapy to help preserve range of motion and prevent contractures. [childneurologyfoundation.org]
These services are localized within the capital thus preventing their accessibility to high-risk communities. Screening programs, which are at the core of public health prevention services, are minimal and not nationally mandated. [link.springer.com]
Sandro Banfi Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy Mariateresa Pizzo, Annalaura Torella, Vincenzo Nigro, Nicola Brunetti-Pierri & Sandro Banfi Division of Phoniatrics and Audiology, Department of Mental and Physical Health and Preventive [nature.com]