Muscular hypotonia, and Retinal detachment

Diseases related with Muscular hypotonia and Retinal detachment

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Retinal detachment that can help you solving undiagnosed cases.


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Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cataract
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME


Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Low match BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Low match MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME


Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Low match SPONDYLO-OCULAR SYNDROME


Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

Low match EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1


The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Low match NORRIE DISEASE


Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Low match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Retinal detachment

Symptoms // Phenotype % cases
Microphthalmia Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Muscular hypotonia and Retinal detachment. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Glaucoma Cerebellar hypoplasia Spasticity Visual loss Retinal dysplasia Optic atrophy Seizures Microcephaly Intellectual disability, profound Type II lissencephaly Congenital muscular dystrophy Pachygyria Blindness Muscle weakness Protruding ear Hydrocephalus Muscular dystrophy Retinopathy Lissencephaly Elevated serum creatine phosphokinase Intellectual disability, severe Low-set ears Hyperextensible skin Retinal dystrophy Mitral valve prolapse Pes planus Short stature Remnants of the hyaloid vascular system Scoliosis Nystagmus Sensorineural hearing impairment Visual impairment Hypertonia Hearing impairment Agyria Chorioretinal dysplasia Hypoplasia of the brainstem Dandy-Walker malformation Corneal opacity Dilatation Ventriculomegaly Cerebellar cyst Cerebellar dysplasia Optic nerve hypoplasia Polymicrogyria Severe muscular hypotonia

Rare Symptoms - Less than 30% cases


Abnormal eyelash morphology Cryptorchidism Vitreoretinopathy Anophthalmia Retinal fold Thin vermilion border Abnormality of neuronal migration Congenital cataract Posteriorly rotated ears Growth delay Hypertelorism Aplasia/Hypoplasia of the lens Aplasia/Hypoplasia of the cerebellum Abnormality of the optic nerve Edema Cleft palate Abnormality of the eye Epicanthus Sclerocornea Atrial septal defect Soft skin Megalocornea Increased susceptibility to fractures Long philtrum Blue sclerae Microcornea Lymphedema Bruising susceptibility Joint hypermobility Joint hyperflexibility Specific learning disability Umbilical hernia Osteoporosis Inguinal hernia Amblyopia Hernia Pointed chin Ectopia lentis Abnormality of retinal pigmentation Abnormality of the cerebral white matter Severe hydrocephalus Hypoplasia of the corpus callosum Areflexia Hypoplasia of the pons Coloboma Deeply set eye Microtia Aqueductal stenosis Encephalocele Motor delay High myopia Heterotopia Frontal bossing Respiratory insufficiency Abnormality of skin pigmentation Macrocephaly Peters anomaly Intrauterine growth retardation Wide nasal bridge Hyperreflexia Hyporeflexia Anteverted nares Sloping forehead Cerebral cortical atrophy Stereotypy Myoclonus Abnormal lactate dehydrogenase activity Psychosis Hallucinations Clonus Autism Macrotia Diabetes mellitus Migraine EEG abnormality Sleep disturbance Abnormality of the nervous system Aggressive behavior Developmental regression Irritability Macrogyria Attention deficit hyperactivity disorder Delayed puberty Hypotelorism Confusion Retinal degeneration Anxiety Failure to thrive Dementia Cigarette-paper scars Aortic root aneurysm Hiatus hernia Aortic dissection Periodontitis Varicose veins Generalized joint laxity Spondylolisthesis Bladder diverticulum Hyperextensibility of the finger joints Rectal prolapse Poor wound healing Eczematoid dermatitis Thick cerebral cortex Lop ear Premature rupture of membranes Malar flattening Hyperextensibility of the knee Behavioral abnormality Hypoplastic male external genitalia Neoplasm Aplasia/Hypoplasia involving the skeletal musculature Membranous ventricular septal aneurysm Premature birth following premature rupture of fetal membranes Subcutaneous spheroids Narrow maxilla Hyperextensibility at elbow Bowel diverticulosis Irregularly spaced teeth Arterial rupture Myxomatous mitral valve degeneration Molluscoid pseudotumors Opacification of the corneal stroma Abnormality of the vasculature Intellectual disability, progressive Excessive daytime sleepiness Flexion contracture Hypoglycosylation of alpha-dystroglycan Skeletal muscle atrophy Meningoencephalocele Myopathy Posterior fossa cyst Agenesis of corpus callosum Proptosis Hydronephrosis Fragile skin Anal atresia Cleft upper lip Oral cleft Muscle fiber splitting Anterior chamber synechiae Buphthalmos Abnormal cortical gyration Iris coloboma Bilateral cleft lip Bifid uvula Retinal atrophy Hypoplasia of penis Cerebellar vermis hypoplasia Submucous cleft hard palate Occipital encephalocele Renal dysplasia Atresia of the external auditory canal Absent septum pellucidum Congenital contracture Vascular neoplasm Neoplasm of the eye Progressive hearing impairment Venous insufficiency Cachexia Self-injurious behavior Abnormal retinal morphology Narrow nasal bridge Abnormality of immune system physiology Metatarsus valgus Severe vision loss Hypoplasia of the iris Congenital glaucoma Abnormality of the helix Abnormality of the retinal vasculature Abnormal pupil morphology Anterior synechiae of the anterior chamber Retinoblastoma Uterine rupture Exudative vitreoretinopathy Shallow anterior chamber Abnormal chorioretinal morphology Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Leukocoria Erectile abnormalities Phthisis bulbi Posterior synechiae of the anterior chamber Abnormal vitreous humor morphology Corneal degeneration Abnormality of the diencephalon Retinopathy of prematurity Abnormal cochlea morphology Cleft lip Leukonychia Atrophic scars Shoulder dislocation Hip dislocation Pulmonic stenosis Arachnodactyly Recurrent fractures Hip dysplasia Abnormality of epiphysis morphology Congenital hip dislocation Cutis laxa Corneal dystrophy Hallux valgus Keratoconus Corneal erosion Corneal scarring Flat cornea Myalgia Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Ptosis Severe short stature Upslanted palpebral fissure Rigidity Leukemia Dry skin Wide nose Thick vermilion border Full cheeks Lymphoma Camptodactyly Neonatal hypotonia Subcutaneous nodule Partial agenesis of the corpus callosum Cognitive impairment Muscular hypotonia of the trunk Leukoencephalopathy Feeding difficulties Respiratory distress Severe global developmental delay Ventricular hypertrophy Left ventricular hypertrophy Retrognathia Facial palsy Decreased fetal movement Large fontanelles Adducted thumb Weak cry Conductive hearing impairment Gonadal dysgenesis Corpus callosum atrophy Strabismus Cerebral atrophy Pigmentary retinopathy Optic disc pallor Cone/cone-rod dystrophy Cortical gyral simplification Biparietal narrowing High palate Gait disturbance Abnormality of the dentition Pectus excavatum Status epilepticus Thickened skin Aortic aneurysm Unilateral cryptorchidism Preauricular pit Long fingers Subcapsular cataract Iris hypopigmentation Thoracic kyphosis Posterior subcapsular cataract Abnormal eyebrow morphology Abnormality of the antihelix Facial hypotonia Vertebral compression fractures Disproportionate short-trunk short stature Thickened helices Shield chest Long toe Accelerated skeletal maturation Abnormality of the intervertebral disk Dysplastic aortic valve Left hemiplegia Hypertension Kyphoscoliosis Joint laxity Abnormality of the foot Asthma Inflammatory abnormality of the skin Osteoarthritis Recurrent urinary tract infections Joint dislocation Infantile muscular hypotonia Hemiplegia Decreased body weight Skin ulcer Erysipelas Abnormality of the hair Muscle stiffness Venous thrombosis Abnormality of vision Scaling skin Pleural effusion Cellulitis Underdeveloped supraorbital ridges Gangrene Abnormal eyelid morphology Abnormal toenail morphology Chylothorax Abnormal nasolacrimal system morphology Panniculitis Low posterior hairline Melanonychia Abnormal facial shape Ventricular septal defect Short neck Kyphosis Depressivity Osteopenia Hyperlordosis Abnormal cardiac septum morphology Pectus carinatum Platyspondyly Unsteady gait Webbed neck Lumbar hyperlordosis Abnormal aldolase level



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