Motor delay, and High myopia

Diseases related with Motor delay and High myopia

In the following list you will find some of the most common rare diseases related to Motor delay and High myopia that can help you solving undiagnosed cases.


Top matches:

High match ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME


Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

High 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

High match HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME


Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.

HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME

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Other less relevant matches:

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A


Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

High match NEONATAL MARFAN SYNDROME


Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

High match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE


AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

High match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

High match WRINKLY SKIN SYNDROME


Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).

WRINKLY SKIN SYNDROME Is also known as wrinkled skin syndrome|wss

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WRINKLY SKIN SYNDROME

High match BARAITSER-WINTER SYNDROME 1; BRWS1


BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Top 5 symptoms//phenotypes associated to Motor delay and High myopia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Pachygyria Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Motor delay and High myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Feeding difficulties Seizures Muscular hypotonia Generalized hypotonia Postnatal growth retardation Abnormal facial shape Long philtrum Ventriculomegaly Downslanted palpebral fissures Midface retrusion Inguinal hernia High palate Strabismus Failure to thrive Cutis laxa Dandy-Walker malformation Short nose Abnormality of the skeletal system Growth delay Scoliosis Microcephaly Intrauterine growth retardation Hearing impairment Smooth philtrum Epicanthus Retrognathia Anteverted nares Emphysema Malar flattening Lissencephaly Hip dislocation Joint hypermobility Polymicrogyria Congenital hip dislocation Redundant skin Lipodystrophy Abnormal isoelectric focusing of serum transferrin Flexion contracture Wide nasal bridge Ectopia lentis Hypertelorism Carious teeth Cataract Retinal detachment Delayed speech and language development Ataxia Dilatation Nystagmus

Rare Symptoms - Less than 30% cases


Fragmented elastic fibers in the dermis Cerebellar dysplasia Feeding difficulties in infancy Pes planus Cerebellar cyst Hernia Hydrocephalus Respiratory distress Microphthalmia Acute lymphoblastic leukemia Hyporeflexia Cerebellar hypoplasia Coxa vara Joint stiffness Wide anterior fontanel Vitreoretinopathy Short neck Enlarged thorax Abnormality of the cerebral white matter Neonatal respiratory distress Cryptorchidism Ptosis Depressed nasal bridge Kyphosis Conductive hearing impairment Micrognathia Cerebellar vermis hypoplasia Glaucoma Heterotopia Elevated serum creatine phosphokinase Umbilical hernia Coarse hair Chorioretinal atrophy Coloboma Abnormality of the dentition Cerebral cortical atrophy Delayed eruption of teeth Leukemia Intellectual disability, profound Sensorineural hearing impairment Mental deterioration Spasticity Delayed closure of the anterior fontanelle Progressive cerebellar ataxia Sparse hair Patent ductus arteriosus Dystonia Generalized joint laxity Decreased muscle mass Infantile muscular hypotonia Cerebellar atrophy Progressive microcephaly Broad nasal tip Excessive wrinkled skin Abnormality of the intrinsic pathway Thick cerebral cortex Prominent nasolabial fold Lens luxation Prominent veins on trunk Occipital meningocele Osteopenia Microdontia Phthisis bulbi Joint laxity Abnormal vitreous humor morphology Visual loss Pectus excavatum Kyphoscoliosis Peripapillary atrophy Syndactyly Cerebellar malformation Talipes equinovarus Exudative retinal detachment Cephalocele Bifid ureter Blindness Cerebral atrophy Progressive visual loss Lymphangioma Aplasia cutis congenita Encephalocele Abnormality of the hair Narrow face Horizontal nystagmus Vesicoureteral reflux Macular degeneration Corneal dystrophy Pyloric stenosis Dextrocardia Cortical dysplasia Bulbous nose Absent septum pellucidum Occipital encephalocele Retinal degeneration Band keratopathy Wormian bones Joint hyperflexibility Congenital cataract Nyctalopia Duplication of phalanx of hallux Meningocele Calvarial skull defect Alopecia Large forehead Anomalous pulmonary venous return Aplasia cutis congenita of scalp Total anomalous pulmonary venous return Thin skin Macular hypoplasia Status epilepticus Ectropion Scapular winging Camptodactyly Oral cleft Cleft upper lip Arthrogryposis multiplex congenita Broad forehead Microtia Wide mouth Abnormality of the pinna Cleft lip Iris coloboma Thin upper lip vermilion Coarse facial features Mandibular prognathia Weight loss Micropenis Hyperactivity Brachycephaly Posteriorly rotated ears Wide nose Thick vermilion border Abnormal heart morphology Low anterior hairline Bilateral ptosis Abnormality of the outer ear Bicuspid aortic valve Spontaneous abortion Pointed chin Hoarse voice Overfolded helix Chorioretinal coloboma Aortic valve stenosis Everted lower lip vermilion Postnatal microcephaly Hypertrichosis Short palpebral fissure Low posterior hairline Webbed neck Lymphoma Bifid uvula Highly arched eyebrow Agenesis of corpus callosum Tracheoesophageal fistula Slurred speech Deep plantar creases Unilateral ptosis Multiple palmar creases Atrial septal dilatation Abnormality of the cheek Premature rupture of membranes Trigonocephaly Short nail Hypoplasia of the musculature Slender long bones with narrow diaphyses Recurrent sinopulmonary infections Deep palmar crease Premature skin wrinkling Prominent fingertip pads Fragile nails Slender long bone Delayed cranial suture closure Nasal speech Small thenar eminence Multiple plantar creases Abnormality of the sternum Atrial septal defect Long palpebral fissure Protruding tongue Abnormality of metabolism/homeostasis Esophageal atresia Inverted nipples Intellectual disability, severe Depressed nasal tip Visual impairment Widow's peak Excessive skin wrinkling on dorsum of hands and fingers Retinal coloboma Edema Neonatal wrinkled skin of hands and feet Congenital ptosis U-Shaped upper lip vermilion High nonceruloplasmin-bound serum copper Facial edema Small, conical teeth Palmoplantar cutis laxa Micromelia Abnormal apolipoprotein level Peripheral demyelination CNS hypomyelination Oligodontia Drooling Hypogonadotrophic hypogonadism Leukodystrophy Intention tremor Focal-onset seizure Dysdiadochokinesis Abnormal cerebellum morphology Hypodontia Dysmetria Delayed puberty Abnormal pyramidal sign Gait ataxia Reduced number of teeth Focal impaired awareness seizure Babinski sign Confusion Severe intrauterine growth retardation Brittle hair Prominent supraorbital ridges Growth abnormality Large fontanelles Flat face Narrow mouth Postural tremor Frontal bossing Abnormal upper motor neuron morphology Hypometric saccades Foam cells Motor deterioration Natal tooth Hypogonadism Hypoplasia of the corpus callosum Deeply set eye Retinal atrophy Muscular dystrophy Corneal opacity Respiratory insufficiency Retinal thinning Dilated fourth ventricle Abnormally large globe Abnormality of the periventricular white matter Abnormality of skin pigmentation Oculomotor apraxia Amblyopia Apraxia Retinal dystrophy Abnormality of eye movement Muscle weakness Severe global developmental delay Ventricular hypertrophy Dysphagia Severe hydrocephalus Tremor Optic atrophy Dysarthria Hyperreflexia Peripheral neuropathy Cognitive impairment Agyria Left ventricular hypertrophy Type II lissencephaly Aqueductal stenosis Hypoplasia of the pons Hypoplasia of the brainstem Congenital muscular dystrophy Severe muscular hypotonia Oxycephaly Pectus carinatum Subretinal pigment epithelium hemorrhage Short thorax Delayed epiphyseal ossification Bell-shaped thorax Glossoptosis Tracheomalacia Hip contracture Arthropathy Flared metaphysis Hypoplastic pelvis Spondyloepiphyseal dysplasia Joint dislocation Rhizomelia Abnormality of epiphysis morphology Abnormality of the metaphysis Recurrent otitis media Tracheal stenosis Disproportionate short-trunk short stature Round face Abnormal cartilage collagen Abnormal subcutaneous fat tissue distribution Psychomotor deterioration Thick hair Redundant neck skin Poor speech Dementia Flattened, squared-off epiphyses of tubular bones Hypoplastic ilia Splayed epiphyses Lumbar kyphoscoliosis Dumbbell-shaped long bone Rhegmatogenous retinal detachment Coronal cleft vertebrae Enlarged joints Osteoarthritis Platyspondyly Small for gestational age Adducted thumb Megalocornea Aortic root aneurysm Lipoatrophy Long fingers Tricuspid regurgitation Heart murmur Mitral regurgitation Abnormal echocardiogram Blue sclerae Mitral valve prolapse Decreased testicular size High, narrow palate Arachnodactyly Dolichocephaly Hypoxemia Long toe Retinopathy Macrocephaly Hyperlordosis Skeletal dysplasia Proptosis Severe short stature Depressivity Gait disturbance Pain Ascending tubular aorta aneurysm Cleft palate Increased arm span Crumpled ear Talipes calcaneovarus Abnormal cardiac ventricle morphology Iridodonesis Tricuspid valve prolapse Small posterior fossa



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Facial palsy, related diseases and genetic alterations

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