Microphthalmia, and Hypertrophic cardiomyopathy

Diseases related with Microphthalmia and Hypertrophic cardiomyopathy

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


Top matches:

Medium match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Medium match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Medium match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

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Other less relevant matches:

Medium match YUNIS-VARON SYNDROME


Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Medium match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

Medium match HISTIOCYTOID CARDIOMYOPATHY


Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

Medium match REFSUM DISEASE


Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

Medium match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Top 5 symptoms//phenotypes associated to Microphthalmia and Hypertrophic cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Very Common - Between 80% and 100% cases
Cataract Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microphthalmia and Hypertrophic cardiomyopathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Atrial septal defect Hearing impairment Visual impairment Hydrocephalus Short stature Abnormal facial shape Corneal opacity Ventricular septal defect Generalized hypotonia Seizures Agenesis of corpus callosum Hypertelorism Strabismus High palate Ventriculomegaly Hypopigmentation of the skin Cryptorchidism Ptosis Renal insufficiency Hypospadias Micropenis Anteverted nares Dolichocephaly Cerebellar hypoplasia Sclerocornea Congenital glaucoma Ventricular fibrillation Postnatal growth retardation Abnormal cardiac septum morphology Abnormality of the testis Histiocytoid cardiomyopathy Feeding difficulties Cafe-au-lait spot Respiratory distress Muscular hypotonia Abnormality of cardiovascular system morphology Tachycardia Abnormal heart morphology Intrauterine growth retardation Dilated cardiomyopathy Supraventricular tachycardia Hepatomegaly Scoliosis Low-set ears Glaucoma

Rare Symptoms - Less than 30% cases


Retinopathy Anal atresia Abnormality of the genital system Abnormality of vision Cardiomegaly Macrocephaly Sparse scalp hair Abnormality of the skeletal system Retrognathia Fever Hypogonadism Ambiguous genitalia Tetralogy of Fallot Dandy-Walker malformation Arrhythmia Upslanted palpebral fissure Ataxia Abnormality of metabolism/homeostasis Hearing abnormality Abnormality of skin pigmentation Aplasia/Hypoplasia of the eyebrow Microcornea Patent foramen ovale Abnormal eyelid morphology Ventricular tachycardia Posterior embryotoxon Cardiac arrest Myopia Redundant neck skin Neoplasm Clitoral hypertrophy Abnormality of blood and blood-forming tissues Short thumb Hypopigmented skin patches Leukemia Hyperpigmentation of the skin Nephropathy Abnormality of retinal pigmentation Amblyopia Mitral regurgitation Absent thumb Abnormality of the uterus Syndactyly Severe short stature Macrotia Abnormality of the liver Abnormality of the eye Neuronal loss in central nervous system Thin vermilion border Tetraplegia Abnormality of the urinary system Sparse hair Abnormality of the foot Skin rash Muscular hypotonia of the trunk Ichthyosis Astigmatism Toe syndactyly Hip dislocation Hypotrichosis Thrombocytopenia Splenomegaly Intellectual disability, severe Anemia Hyperreflexia Sloping forehead Congenital cataract Status epilepticus High, narrow palate Congestive heart failure Epicanthus Headache Proptosis Patent ductus arteriosus High forehead Peters anomaly Sensorineural hearing impairment Irritability Hypothyroidism Umbilical hernia Congenital microcephaly Aplasia/Hypoplasia of the iris Pachygyria Left ventricular noncompaction Wolff-Parkinson-White syndrome Hypoplastic left heart Sudden cardiac death Abnormality of epiphysis morphology Progressive visual loss Skeletal myopathy Hemiplegia/hemiparesis Hepatic steatosis Abnormal pyramidal sign Hyperpigmented streaks Lacrimal duct atresia Abnormal myocardium morphology Nail dysplasia Endocardial fibroelastosis Skeletal muscle atrophy Developmental regression Skeletal dysplasia Pes cavus Dry skin Respiratory insufficiency Hammertoe Nyctalopia Peripheral neuropathy Heart block Acute tubular necrosis Abnormality of eye movement Short metacarpal Hypoplasia of the retina Increased mitochondrial number Decreased activity of mitochondrial complex I Abnormal atrioventricular conduction Anosmia Reticulocytopenia Cavum septum pellucidum Absent radius Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Chromosome breakage External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Acute myeloid leukemia Abnormal aortic valve morphology Multiple cafe-au-lait spots Myeloid leukemia Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Reduced bone mineral density Renal hypoplasia/aplasia Abnormality of the hypothalamus-pituitary axis Abnormal renal morphology Dilation of lateral ventricles Absent testis Pericardial effusion Severe muscular hypotonia Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Hypoplastic anemia Abnormal localization of kidney Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Abnormality of chromosome stability Miosis Hypopigmentation of the fundus Dysarthria Ventricular hypertrophy Coarse hair Optic nerve hypoplasia Increased intracranial pressure Arnold-Chiari malformation Infantile muscular hypotonia Abnormal palate morphology Abnormality of the fingernails Hypocalcemia Hoarse voice Thin skin Thick lower lip vermilion Low posterior hairline Coarctation of aorta Deep philtrum Eczema Cyanosis Wide intermamillary distance Growth hormone deficiency Webbed neck Joint hypermobility Carious teeth Pulmonic stenosis Pectus carinatum Attention deficit hyperactivity disorder Craniosynostosis Low-set, posteriorly rotated ears Hypoglycemia Relative macrocephaly Nasal speech Hyperactivity Abnormally large globe Broad fingertip Loose anagen hair Abnormal location of ears Superior pectus carinatum Abnormality of the intervertebral disk Dermal translucency Abnormality of the pulmonary artery Thickened helices Peripheral pulmonary artery stenosis Slow-growing hair Abnormality of refraction Enlarged cisterna magna Hypomagnesemia Failure to thrive in infancy Fragile nails Hiatus hernia Abnormality of the elbow Broad neck Arnold-Chiari type I malformation Atopic dermatitis Natal tooth Freckling Neurodevelopmental delay Abnormality of coagulation Right bundle branch block Hypoplastic toenails Overfolded helix Gastroesophageal reflux Prominent forehead Cerebellar atrophy Migraine Infantile spasms Scotoma Blurred vision Cerebral hemorrhage Hemiplegia Intracranial hemorrhage Dysphonia Leukoencephalopathy Spastic paraparesis Paraparesis Hemiparesis Spastic tetraplegia Muscle cramps Increased intraocular pressure Renal cyst Retinal detachment Hematuria Hypermetropia Abnormality of the cerebral white matter Stroke Facial palsy Abnormality of the nervous system Dementia Elevated serum creatine phosphokinase Depressivity Dilatation Intellectual disability, mild Hypoplasia of the iris Ectopia pupillae Posteriorly rotated ears Peripapillary atrophy Delayed skeletal maturation Pectus excavatum Short nose Vomiting Short neck Downslanted palpebral fissures Brachydactyly Delayed speech and language development Thalamic hemorrhage Posterior leukoencephalopathy Retinal arterial tortuosity Right hemiplegia Retinal arteriolar tortuosity Corneal neovascularization Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Polycoria Rieger anomaly Arterial tortuosity Neuritis Retinal hemorrhage Migraine with aura Porencephalic cyst Azoospermia Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Cranial nerve paralysis Hypoplastic facial bones Leukopenia Aplasia/Hypoplasia of the skin Periventricular leukomalacia Colpocephaly Echolalia Retinal dysplasia Ocular albinism Male pseudohermaphroditism Abnormal eyelash morphology Anencephaly Aplasia cutis congenita Anteriorly placed anus Absent septum pellucidum Abnormality of the ear Abnormality of earlobe Hypoplasia of the uterus Dysphasia Aphasia Albinism Preauricular pit Tricuspid regurgitation Anophthalmia Dermal atrophy Mutism Sacral dimple Intellectual disability, progressive Chordee Epispadias Abnormality of the nail Abnormality of the rectum Abnormality of the pinna Thin upper lip vermilion Polyhydramnios Narrow mouth Edema Hypoplasia of the corpus callosum Hypertension Depressed nasal bridge Anal fistula Asymmetric, linear skin defects Cleft earlobe Vitritis Abnormal nasolacrimal system morphology Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Abnormality of the penis Mandibular aplasia Overriding aorta Abnormality of the anus Tricuspid valve prolapse Abnormality of dental enamel Congenital diaphragmatic hernia Short philtrum Dysfunction of lateral corticospinal tracts Gliosis Polymicrogyria Abnormality of movement Generalized tonic-clonic seizures Elevated hepatic transaminase Hepatosplenomegaly Jaundice Cerebral cortical atrophy Long philtrum Hypertonia Spasticity Displacement of the external urethral meatus Intellectual disability, profound Streak ovary Abnormal vagina morphology Gonadoblastoma Hemihypertrophy Renal neoplasm Acute lymphoblastic leukemia Aniridia Nephroblastoma Abnormality of the genitourinary system Everted lower lip vermilion Obesity Cerebral calcification Tetraparesis Mitral valve prolapse Visual loss Pigmentary retinopathy Specific learning disability Retinal dystrophy Iris coloboma Wide nose Nail dystrophy Coloboma Blepharophimosis Erythema Dyspnea Respiratory failure Hernia Postnatal microcephaly Midface retrusion Blindness Wide nasal bridge Increased CSF protein Petechiae Lissencephaly Spastic tetraparesis Purpura Microretrognathia Opacification of the corneal stroma Cerebral visual impairment Decreased liver function Protruding ear Microtia Type I diabetes mellitus Abnormal pelvis bone morphology Cleft palate Aplasia of the distal phalanx of the hallux Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Abnormality of the occipital bone Abnormal parietal bone morphology Tapered toe Short proximal phalanx of hallux Frontal bossing Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Aplasia/Hypoplasia of the hallux Bilateral external ear deformity Absent sternal ossification Broad secondary alveolar ridge Generalized hypotrichosis Abnormality of the scapula Gingival recession Aplasia/Hypoplasia of the clavicles Fatigue Clinodactyly of the 5th finger Aplasia/Hypoplasia of the distal phalanges of the hand Pancytopenia Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Choanal atresia Short palpebral fissure Oligohydramnios Diabetes mellitus Renal agenesis Lymphoma Neutropenia Bruising susceptibility Vertigo Facial asymmetry Finger syndactyly Small for gestational age Abnormality of the kidney Carcinoma Pes planus Weight loss Aplasia/Hypoplasia of the nails Renal artery stenosis Severe global developmental delay Short chin Flared metaphysis Metatarsus adductus Short middle phalanx of finger Rocker bottom foot Absent eyebrow Abnormality of dental morphology Sparse eyebrow Pyloric stenosis Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Sparse eyelashes Short ribs Short finger Short toe Sparse and thin eyebrow Hydrops fetalis Short phalanx of finger Large fontanelles Small nail Cerebellar vermis hypoplasia Pulmonary arterial hypertension Premature birth Hypodontia Tapered finger Single transverse palmar crease Anonychia Abnormality of digit Renovascular hypertension Premature loss of primary teeth Hypoplasia of the frontal lobes Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Generalized neonatal hypotonia Short upper lip Increased nuchal translucency Wide cranial sutures Arrhinencephaly Aplastic clavicle Small earlobe Bilateral microphthalmos Absent nipple Severe hearing impairment Aplasia/Hypoplasia of the nipples Abnormality of the neck Decreased skull ossification Hypoplastic scapulae Hypoplastic labia majora Abnormality of finger Severe failure to thrive Glossoptosis Inverted nipples Short clavicles Aplasia/Hypoplasia of the thumb Thin ribs Abnormality of the nasal bridge



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