Myopia, and Infertility

Diseases related with Myopia and Infertility

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


Top matches:

Medium match BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Medium match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Medium match FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT


Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement|homg3|hypomagnesemia, isolated renal|hypomagnesemia, primary, due to defect in renal tubular transport of magnesium|renal hypomagnesemia type 3|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT

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Other less relevant matches:

Medium match ANGELMAN SYNDROME; AS


Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium match NOONAN SYNDROME


Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Medium match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Medium match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Low match LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11


Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Top 5 symptoms//phenotypes associated to Myopia and Infertility

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Hypermetropia Muscular hypotonia Edema Failure to thrive Hypertelorism Growth delay Seizures Hypogonadism Epicanthus Depressed nasal bridge High palate Sensorineural hearing impairment Hearing impairment Neoplasm Generalized hypotonia Constipation Cataract Broad forehead Intrauterine growth retardation Macrocephaly Leukemia Microcephaly Abnormality of the dentition Postnatal growth retardation Short neck Obesity Cryptorchidism Fever Vomiting Brachydactyly Motor delay Gastroesophageal reflux Hypertension Cognitive impairment Failure to thrive in infancy Male infertility Amenorrhea Primary amenorrhea Clinodactyly Abnormality of the nervous system Astigmatism Delayed puberty Thrombocytopenia Abnormality of cardiovascular system morphology Type II diabetes mellitus Feeding difficulties in infancy Triangular face Micrognathia Clumsiness Congestive heart failure Scoliosis Ptosis

Rare Symptoms - Less than 30% cases


Amegakaryocytic thrombocytopenia Low posterior hairline Superior pectus carinatum Coarctation of aorta Myeloproliferative disorder Reduced factor XII activity Neurofibrosarcoma Downturned corners of mouth Short palm Protruding tongue Proptosis Overweight Abnormality of lipid metabolism Dolichocephaly Wide intermamillary distance Hepatomegaly Dysarthria Polyphagia Cerebellar atrophy Albinism Bicuspid aortic valve Cubitus valgus Radial deviation of finger Overgrowth Insulin resistance Macroglossia Hypopigmentation of the skin Sleep disturbance Cystic hygroma Neurological speech impairment Poor suck Arnold-Chiari malformation Abnormality of blood and blood-forming tissues Autism Multiple lentigines Abnormality of the lymphatic system Growth hormone deficiency Hyperactivity Brachycephaly Lymphedema Amblyopia Shield chest Kyphosis Behavioral abnormality Talipes equinovarus Intellectual disability, severe Synovitis Ataxia Webbed neck Abdominal pain Dental malocclusion Atrial septal defect Neutropenia Carious teeth Ventricular septal defect Small for gestational age Prominent forehead Severe short stature Delayed skeletal maturation Acute lymphoblastic leukemia Anemia Wide nasal bridge Microphthalmia Hernia Cardiomyopathy Thickened nuchal skin fold Atrioventricular canal defect Unilateral ptosis Intellectual disability, mild Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Dilatation Premature ovarian insufficiency Pectus excavatum Narrow palpebral fissure Patent ductus arteriosus Narrow forehead Abnormal heart morphology Kyphoscoliosis Polyhydramnios Clinodactyly of the 5th finger Downslanted palpebral fissures Hypocalcemia Diabetes mellitus Abnormal bleeding Abdominal distention Hepatosplenomegaly Hydronephrosis High, narrow palate Arrhythmia Bruising susceptibility Muscle weakness Impaired pain sensation Narrow mouth Thick lower lip vermilion Pulmonic stenosis High pitched voice Hypotrichosis Increased body weight Short nose Sparse hair Ventriculomegaly Pain Hypoparathyroidism Tetany Upslanted palpebral fissure Persistence of primary teeth Hypoplasia of the corpus callosum Hypogonadotrophic hypogonadism Aortic valve stenosis Hyperinsulinemia Emotional lability Scrotal hypoplasia Sleep apnea Spontaneous abortion Precocious puberty Nasal speech Infantile muscular hypotonia Intestinal lymphangiectasia Bradycardia Morphological abnormality of the inner ear Recurrent respiratory infections Hyporeflexia Syndactyly Myopathy Delayed speech and language development Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Aplasia of the semicircular canal Respiratory failure Hypoplasia of lymphatic vessels Abnormal location of ears Puberty and gonadal disorders Prominent nasolabial fold Hyperkeratosis pilaris Reduced factor XI activity Abnormal platelet function Pulmonary lymphangiectasia Reduced factor VIII activity Abnormal pulmonary valve morphology Abnormality of the mandible Prominent fingertip pads Osteoporosis Micropenis Cutaneous photosensitivity Short foot Psychosis Decreased fetal movement Oligohydramnios Abnormality of the cardiovascular system Specific learning disability Hip dysplasia Febrile seizures Esotropia Gastrointestinal hemorrhage Full cheeks Sepsis Tapered finger Small hand Weight loss Polymicrogyria Arachnodactyly Pruritus Stroke Attention deficit hyperactivity disorder Respiratory tract infection Abnormality of the pinna Apnea Neonatal hypotonia Hypoglycemia Photophobia Thin upper lip vermilion Osteopenia Genu valgum Poor fine motor coordination Large hands Short middle phalanx of the 5th finger Intellectual disability, moderate Depressivity Frontal bossing Acute megakaryocytic leukemia Left-to-right shunt Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Complete atrioventricular canal defect Cirrhosis Pulmonary edema Hypoxemia Acute monocytic leukemia Senile plaques Hypoplastic iliac wing Double outlet right ventricle Thrombocytosis Polycythemia Neurofibrillary tangles Congenital hypothyroidism Abnormality of immune system physiology Prematurely aged appearance Transposition of the great arteries Broad palm Retinopathy Hypodontia Hydroureter Scaphocephaly Leukodystrophy Tremor Spasticity Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Insulin-resistant diabetes mellitus Ascites Pericarditis Slender long bone Pulmonary fibrosis Nephroblastoma Cachexia Reduced tendon reflexes Acanthosis nigricans Pointed chin Dental crowding Epidermal acanthosis Pigmentary retinopathy Cyanosis Decreased antibody level in blood Nevus Decreased fertility Alzheimer disease Inflammation of the large intestine Acrocyanosis Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Oligomenorrhea Hypoplastic labia minora Central hypotonia Iris hypopigmentation Hypoventilation Hypopigmentation of hair Pulmonary embolism Striae distensae Myeloid leukemia Narrow nasal bridge External genital hypoplasia Truncal obesity Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Glucose intolerance Central adrenal insufficiency Psychotic episodes Cholelithiasis Microtia Breast carcinoma Renal hypoplasia/aplasia Sandal gap Narrow palate Bilateral single transverse palmar creases Aganglionic megacolon Open mouth Depressed nasal ridge Microdontia Postural instability Single transverse palmar crease Postaxial polydactyly Flat face Anal atresia Developmental regression Narrow palm Joint laxity Conductive hearing impairment Umbilical hernia Hypothyroidism Polydactyly Dementia Recurrent infections Malar flattening Hydrocephalus Gait disturbance Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Prolonged QRS complex Hypoplastic aortic arch Chylothorax Enuresis Impaired urinary acidification Hypocitraturia Renal calcium wasting Medullary nephrocalcinosis Hypermagnesiuria Renal magnesium wasting Renal potassium wasting Hyposthenuria Chorioretinitis Enuresis nocturna Chondrocalcinosis Oligospermia Optic atrophy Hypomagnesemia Ankylosis Amelogenesis imperfecta Acute kidney injury Renal tubular acidosis Hyperuricemia Polyuria Polydipsia Hypercalciuria Chronic kidney disease Nephrocalcinosis Hyperreflexia Absent speech Nephrolithiasis Abnormal cerebellum morphology Widely spaced teeth Intellectual disability, progressive Aspiration Exotropia Postnatal microcephaly Abnormality of the face Broad-based gait Status epilepticus Intellectual disability, profound Generalized-onset seizure Focal-onset seizure Hypoplasia of the maxilla Encephalopathy Falls Abnormality of movement Wide mouth Autistic behavior Anxiety Deeply set eye EEG abnormality Mandibular prognathia Gait ataxia Cerebral cortical atrophy Inguinal hernia Gingival overgrowth Recurrent urinary tract infections Drooling Congenital ptosis Small nail High myopia Decreased testicular size Congenital cataract Abnormality of the liver Flexion contracture Abnormal lacrimal duct morphology Abnormality of the breast Premature atrial contractions Female infertility Epicanthus inversus Increased circulating gonadotropin level Delayed cranial suture closure Short finger Hypoplasia of the uterus Cupped ear Holoprosencephaly Abnormality of the hair Congenital diaphragmatic hernia Microcornea Synophrys Blepharophimosis Camptodactyly Telecanthus Increased bone mineral density High hypermetropia Hematuria Thin long bone diaphyses Paresthesia Malabsorption Arthritis Acidosis Renal insufficiency Abnormality of the medullary cavity of the long bones Abnormal circulating follicle-stimulating hormone level Transient hypophosphatemia Retinal calcification Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Cortical thickening of long bone diaphyses Basal ganglia calcification Postnatal macrocephaly Congenital hypoparathyroidism Thickened cortex of long bones Hypocalcemic tetany Hypocalcemic seizures Bilateral microphthalmos Delayed closure of the anterior fontanelle Decreased skull ossification Hyperphosphatemia Papilledema Proportionate short stature Cerebral palsy Hyperkinesis Abnormal hair quantity Otitis media Radioulnar synostosis Abnormality of the urinary system Coarse hair Abnormal dermatoglyphics Scapular winging Cafe-au-lait spot Decreased body weight Abnormality of the genital system Mitral regurgitation Mitral valve prolapse Tetralogy of Fallot Thick vermilion border Abnormality of the thorax Joint hypermobility Joint hyperflexibility Pectus carinatum Coarse facial features High forehead Midface retrusion Dysphagia Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Bilateral ptosis Pleural effusion Pectus excavatum of inferior sternum Abnormality of the testis Enlarged thorax Abnormality of the pulmonary artery Elevated circulating luteinizing hormone level Thickened helices Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of refraction Abnormality of the helix High anterior hairline Melanocytic nevus Premature skin wrinkling Acute leukemia Abnormality of the mouth Pulmonary artery stenosis Aortic root aneurysm Thoracic scoliosis Curly hair Abnormality of digit Prolonged bleeding time Abnormality of coagulation Myopathic facies Gonadal neoplasm Loose anagen hair Incoordination Happy demeanor Rod-cone dystrophy Headache Splenomegaly Low-set ears Anisometropia Paroxysmal bursts of laughter Tongue thrusting Large foramen magnum Sleep-wake cycle disturbance Inappropriate laughter Limb tremor Moderate global developmental delay Abnormal cardiac septum morphology Profound global developmental delay Short attention span Fair hair Blue irides Progressive gait ataxia Epileptic spasms Drowsiness Atonic seizures Keratoconus Flat occiput Self-injurious behavior Posteriorly rotated ears Facial asymmetry Juvenile myelomonocytic leukemia Gonadal dysgenesis Panuveitis Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Schwannoma Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Neuroblastoma Ventricular hypertrophy Abnormality of the vertebral column Neurofibromas Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Myelodysplasia Patent foramen ovale Elevated alkaline phosphatase Pterygium Azoospermia Plagiocephaly Left ventricular hypertrophy CNS hypomyelination



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