Myopia, and Apnea

Diseases related with Myopia and Apnea

In the following list you will find some of the most common rare diseases related to Myopia and Apnea that can help you solving undiagnosed cases.


Top matches:

Medium match SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME


Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Medium match BIOTINIDASE DEFICIENCY


Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BIOTINIDASE DEFICIENCY

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Other less relevant matches:

Medium match 17P11.2 MICRODUPLICATION SYNDROME


17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Medium match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Medium match X-LINKED CENTRONUCLEAR MYOPATHY


X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Medium match PRADER-WILLI SYNDROME DUE TO A POINT MUTATION


SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

Medium match SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1


SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Medium match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Top 5 symptoms//phenotypes associated to Myopia and Apnea

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Sleep apnea Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopia and Apnea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Muscle weakness Respiratory distress Feeding difficulties Talipes equinovarus Microcephaly Short stature Hearing impairment Short neck Mandibular prognathia Abnormal facial shape Growth delay Strabismus Flexion contracture Gastroesophageal reflux Midface retrusion Hypertelorism Cataract Autism Cryptorchidism High palate Neonatal hypotonia Skeletal muscle atrophy Lumbar hyperlordosis High myopia Gait disturbance Respiratory insufficiency Myopathy Wide mouth Platyspondyly Autistic behavior Skeletal dysplasia Severe short stature Cleft palate Kyphosis Motor delay Intellectual disability, severe Hydrocephalus Hypoplasia of the corpus callosum Frontal bossing Dysphagia Rhizomelia Ptosis Hyperventilation Micrognathia Failure to thrive EMG abnormality Micropenis

Rare Symptoms - Less than 30% cases


Misalignment of teeth Temperature instability Aplasia/Hypoplasia of the corpus callosum Pain Hypertension Intermittent hyperventilation Malar flattening Echolalia Broad forehead Dysphasia Abnormality of the skeletal system Trigonocephaly Failure to thrive in infancy Dental malocclusion Pes planus Smooth philtrum Hypermetropia Hyperlordosis Anxiety EEG abnormality Abnormal autonomic nervous system physiology Wide nasal bridge Delayed speech and language development Glaucoma Narrow forehead Pectus carinatum Rigidity Anteverted nares Macrocephaly Hypoventilation Kyphoscoliosis Areflexia Skeletal muscle hypertrophy Mask-like facies Weak cry Abnormality of the pinna Myotonia Inability to walk Dolichocephaly Arthrogryposis multiplex congenita Generalized muscle weakness Congenital hip dislocation Absent speech Constipation Hip dislocation Wide intermamillary distance Flat face Fatigue Open mouth Polyhydramnios Retinal detachment Waddling gait Decreased fetal movement Sleep disturbance Hyperhidrosis Tapered finger Coxa vara Small hand Thick eyebrow Talipes Camptodactyly Coarse facial features Clinodactyly Full cheeks Micromelia Accelerated skeletal maturation Feeding difficulties in infancy Abnormal cerebellum morphology Astigmatism Optic atrophy Depressed nasal bridge Congestive heart failure Respiratory failure Retrognathia Gait ataxia Severe global developmental delay Metaphyseal widening Exotropia Sensorineural hearing impairment Ataxia Intrauterine growth retardation Brain atrophy Coxa valga Fractures of the long bones Cavernous hemangioma Nocturnal hypoventilation Breathing dysregulation Diaphragmatic eventration Abnormality of the helix Spherocytosis Slender toe Thickened helices Head tremor Abnormal pattern of respiration Facial diplegia Premature adrenarche Percussion myotonia Birth length greater than 97th percentile Hodgkin lymphoma Self-injurious behavior Short foot Clubbing Cupped ear Overlapping toe Supernumerary nipple Aphasia Hypoglycemia Hypogonadism Respiratory failure requiring assisted ventilation Hiatus hernia Acrocyanosis Esophagitis Depressivity Obesity Clubbing of fingers Brachydactyly Hepatic hemangioma Short nose Neonatal respiratory distress Neck muscle weakness Ophthalmoplegia Hip dysplasia Abnormal bleeding Long face Narrow foot Arachnodactyly Lower limb muscle weakness Limb muscle weakness Paralysis Failure of eruption of permanent teeth Facial palsy High forehead Broad fingertip Dyspnea Triangular nasal tip Anemia Hypoplasia of the pyramidal tract Cephalocele Hepatitis Nephrolithiasis Pes valgus Large beaked nose Centrally nucleated skeletal muscle fibers Hypokinesia Long fingers Esotropia Ophthalmoparesis Pyloric stenosis Happy demeanor Cholelithiasis Atrioventricular block Small cerebral cortex Hemangioma External ophthalmoplegia Square face Severe muscular hypotonia Nephrocalcinosis Narrow face Decreased liver function Progressive muscle weakness Short metatarsal Hypopigmented skin patches Incoordination Decreased testicular size Pneumonia Pes cavus Upslanted palpebral fissure Deeply set eye Joint contracture of the hand Bowing of the long bones Aggressive behavior Intellectual disability, moderate Postnatal growth retardation Encephalopathy Hypoglycosylation of alpha-dystroglycan Protruding ear Short philtrum Microcornea Recurrent fractures Blepharophimosis Prominent nasal bridge Umbilical hernia Osteopenia Elbow flexion contracture Generalized hirsutism Narrow mouth Generalized muscle hypertrophy Flexion contracture of toe Spinal deformities Weak voice Wrist flexion contracture Hypoplasia of the musculature Coronal cleft vertebrae Pursed lips Shoulder flexion contracture Smooth tongue Narrow palpebral fissure Constrictive median neuropathy Abnormality of femoral epiphysis Blepharospasm Malignant hyperthermia Long eyelashes in irregular rows Hip contracture Anterior bowing of long bones High pitched voice Overfolded helix Proptosis Osteoporosis Coarse hair Abnormal palate morphology Aganglionic megacolon Postnatal microcephaly Truncal ataxia Finger clinodactyly Rocker bottom foot Akinesia Intellectual disability, progressive Impulsivity Hyperinsulinemia Cyanosis Pterygium Widely spaced teeth Poor suck Adducted thumb Microretrognathia Increased body weight Mutism Short palpebral fissure Talipes valgus Thick lower lip vermilion Specific learning disability Delayed skeletal maturation Narrow palm Neurological speech impairment Thick vermilion border Inguinal hernia Hyporeflexia Single transverse palmar crease Fever Hypopigmentation of the skin Low-set ears Abdominal distention Prominent nose Limited elbow extension Convex nasal ridge Multiple pterygia Abnormality of the philtrum Excessive salivation Hyperinsulinemic hypoglycemia Fetal akinesia sequence Delayed ability to walk Short humerus Polyphagia Thoracic hemivertebrae Dilatation Agyria Seborrheic dermatitis Decreased biotinidase activity Perioral eczema Metabolic ketoacidosis Desquamation of skin soon after birth Laryngeal stridor Diffuse cerebellar atrophy Recurrent fungal infections Keratoconjunctivitis Alcoholism Organic aciduria Epicanthus Diffuse cerebral atrophy Iris hypopigmentation Bronchitis Basal ganglia calcification Infantile spasms Visual field defect Stridor Urticaria Recurrent skin infections Hyperammonemia Cognitive impairment Dysarthria Conjunctivitis Triangular face Oral-pharyngeal dysphagia Language impairment Patent foramen ovale Infantile muscular hypotonia Hypercholesterolemia Stereotypy Dental crowding Abnormality of the cardiovascular system Delayed myelination Bifid uvula Hypoplasia of the maxilla Downslanted palpebral fissures Small for gestational age Attention deficit hyperactivity disorder Abnormality of the kidney Low-set, posteriorly rotated ears Hypothyroidism Hyperactivity Abnormal heart morphology Abnormality of cardiovascular system morphology Intellectual disability, mild Abnormality of the dentition Tachypnea Inflammatory abnormality of the skin Open bite Epidermal acanthosis Abnormality of the clavicle Tibial bowing Femoral bowing Mesomelia Thoracic hypoplasia Redundant skin Acanthosis nigricans Wide anterior fontanel Pulmonary arterial hypertension Generalized-onset seizure Central apnea Otitis media Craniosynostosis Broad femoral neck Obstructive sleep apnea Scaphocephaly 2-3 toe syndactyly Scrotal hypoplasia Hypotelorism Hypospadias Ventricular septal defect Megalencephaly Cloverleaf skull Aciduria Alopecia Generalized myoclonic seizures Coma Metabolic acidosis Lactic acidosis Hypotrichosis Lethargy Skin rash Developmental regression Abnormality of the nervous system Acidosis Visual loss Metaphyseal chondrodysplasia Recurrent infections Splenomegaly Hypertonia Diarrhea Vomiting Hepatomegaly Spasticity Enlarged cerebellum Aplasia/Hypoplasia of the mandible Fibular bowing Abnormality of dental morphology High hypermetropia Cerebellar cyst Brachycephaly Encephalocele Cerebellar vermis hypoplasia Polymicrogyria Pulmonic stenosis Congenital cataract Abnormality of the cerebral white matter Dilated cardiomyopathy Muscular dystrophy Camptodactyly of finger Agenesis of corpus callosum Preauricular skin tag Cerebellar hypoplasia Elevated serum creatine phosphokinase Pectus excavatum Microphthalmia Atrial septal defect Ventriculomegaly Visual impairment Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Pachygyria Bradycardia Delayed pubic bone ossification Spinal rigidity Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Buphthalmos Myocardial fibrosis Retinal dysplasia Ankle contracture Anencephaly Atrophy/Degeneration affecting the brainstem Transposition of the great arteries Cortical dysplasia Hemivertebrae Generalized amyotrophy Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Hypoplasia of the brainstem Congenital muscular dystrophy Plagiocephaly Lissencephaly Holoprosencephaly Knee flexion contracture Sciatica Retinoschisis Poor eye contact Nystagmus Retinal degeneration Paresthesia Genu valgum Narrow chest Autoimmunity Respiratory tract infection Arthritis Polydactyly Hernia Receptive language delay Limitation of joint mobility Central sleep apnea Expressive language delay Prominent nasal tip Poor fine motor coordination Abnormality of the pharynx Hypocholesterolemia Abnormal renal morphology Speech apraxia Abnormality of chromosome segregation Bipolar affective disorder Pulmonary hypoplasia Limb undergrowth Limited hip movement Restrictive ventilatory defect Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Short thorax Osteoarthritis Vestibular dysfunction Bowing of the legs Spondyloepiphyseal dysplasia Back pain Genu varum Growth abnormality Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Overhanging nasal tip



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