Epicanthus, and Hypertrophic cardiomyopathy

Diseases related with Epicanthus and Hypertrophic cardiomyopathy

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


Top matches:

Medium match NOONAN SYNDROME 5; NS5


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Medium match LEOPARD SYNDROME 2; LPRD2


Related symptoms:

  • Short stature
  • Hypertelorism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

Medium match NOONAN SYNDROME 6; NS6


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

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Other less relevant matches:

Medium match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Medium match NOONAN SYNDROME 4; NS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Medium match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Medium match 8P23.1 MICRODELETION SYNDROME


8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

8P23.1 MICRODELETION SYNDROME Is also known as del(8)(p23.1)|monosomy 8p23.1

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 8P23.1 MICRODELETION SYNDROME

Medium match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Medium match ISOLATED COMPLEX III DEFICIENCY


Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Medium match HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Webbed neck

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Atrial septal defect Ptosis Cardiomyopathy Patent ductus arteriosus Pulmonic stenosis Wide nasal bridge Cryptorchidism Depressed nasal bridge Curly hair Abnormal facial shape Abnormality of the sternum Delayed speech and language development Ventricular septal defect Polyhydramnios Leukemia Abnormal heart morphology Intellectual disability, mild Prominent forehead Thick vermilion border Coarse facial features Strabismus Cognitive impairment Generalized hypotonia Thick lower lip vermilion

Rare Symptoms - Less than 30% cases


Ventricular hypertrophy Delayed myelination Seizures Short nose Pectus excavatum Hyperreflexia Posteriorly rotated ears Long eyelashes Abnormality of the skeletal system Wide intermamillary distance Scoliosis Microcephaly Broad hallux phalanx Hypertrichosis Failure to thrive Cardiomegaly Spasticity Skeletal dysplasia Low posterior hairline Abnormal cardiac septum morphology Anteverted nares High palate Mandibular prognathia Growth delay Hearing impairment Hyperkeratosis Cubitus valgus Cafe-au-lait spot High forehead Dolichocephaly Wide mouth Sensorineural hearing impairment Edema Juvenile myelomonocytic leukemia Relative macrocephaly Cataract Abnormality of the coagulation cascade Myoglobinuria Rhabdomyolysis Peripheral neuropathy Tetraparesis Glycosuria Cholestasis Hallucinations Emotional lability Spastic tetraparesis Feeding difficulties Decreased liver function Nephritis Aminoaciduria Brittle hair Ragged-red muscle fibers Severe muscular hypotonia Exercise intolerance Pigmentary retinopathy Skeletal muscle atrophy Muscular hypotonia of the trunk Hyperphosphaturia Visual loss Encephalopathy Depressivity Cerebral atrophy Dementia Acidosis EEG abnormality Hypertonia Hypoglycemia Elevated hepatic transaminase Vomiting Feeding difficulties in infancy Blindness Developmental regression Retinopathy Cerebellar atrophy Small for gestational age Congenital cataract Lactic acidosis Hepatic failure Sensory neuropathy Metabolic acidosis Coma Increased serum lactate Rod-cone dystrophy Tubulointerstitial nephritis Gingival overgrowth Cholangitis Thick upper lip vermilion Pyloric stenosis Elevated alkaline phosphatase Metaphyseal widening Large for gestational age Flared metaphysis Broad hallux Pericardial effusion Abnormal heart valve morphology Thin ribs Thickened calvaria Short hallux Ovoid vertebral bodies Broad ribs Bicuspid aortic valve Esodeviation Generalized hypertrichosis Deep plantar creases Large sella turcica Curly eyelashes Concentric hypertrophic cardiomyopathy Erlenmeyer flask deformity of the femurs Congenital, generalized hypertrichosis Bilateral coxa valga Cuboid-shaped vertebral bodies Broad first metatarsal Hypoplastic ischiopubic rami Congenital hypertrophy of left ventricle Prominent supraorbital ridges Accelerated skeletal maturation Proximal tubulopathy Delayed skeletal maturation Hyperechogenic kidneys Microvesicular hepatic steatosis Abnormality of the abdominal wall Food intolerance Histiocytoid cardiomyopathy Mitochondrial encephalopathy Persistent lactic acidosis Decreased mitochondrial complex III activity in liver tissue Postterm pregnancy Hypertension Long philtrum Recurrent infections Osteoporosis Coxa valga Osteopenia Umbilical hernia Anxiety Finger syndactyly Platyspondyly Narrow chest Thick eyebrow Short distal phalanx of finger Abnormality of the metaphysis Muscle weakness Lymphedema Low anterior hairline Generalized hirsutism Muscular hypotonia Telecanthus Nystagmus Acute lymphoblastic leukemia Abnormality of coagulation Prolonged bleeding time Blue irides High anterior hairline Pectus excavatum of inferior sternum Abnormality of the cardiovascular system Left ventricular hypertrophy Hyperpigmentation of the skin Hyperextensible skin Systemic lupus erythematosus Pleural effusion Graves disease Sparse eyebrow Chylothorax Palmoplantar cutis laxa Micrognathia Intrauterine growth retardation Behavioral abnormality Abnormality of cardiovascular system morphology Obesity Hypospadias Upslanted palpebral fissure Weight loss Pes planus Deeply set eye Bilateral cryptorchidism Sparse and thin eyebrow Prominent nasal bridge Long eyebrows Arrhythmia Dry skin Multiple lentigines Motor delay Myopia Sparse hair Broad forehead Growth hormone deficiency Bilateral ptosis Broad neck Asymmetry of the thorax Frontal bossing Dental malocclusion Craniosynostosis Mitral valve prolapse Deep philtrum Pterygium Cystic hygroma Scaphocephaly Sagittal craniosynostosis Myeloproliferative disorder Hypoplastic nasal bridge Atrial septal dilatation Dysplastic pulmonary valve Low-set, posteriorly rotated ears Attention deficit hyperactivity disorder Poor speech Ataxia Coarse hair Abnormality of the foot Hirsutism Wide nose Hepatic steatosis Macroglossia Brain atrophy Cerebral calcification Abnormal lung morphology Thickened skin Joint contracture of the hand Bone marrow hypocellularity Glomerulosclerosis Hip dislocation Focal segmental glomerulosclerosis Barrel-shaped chest Tubular atrophy Dysostosis multiplex Beaking of vertebral bodies Large forehead Flared iliac wings Acetabular dysplasia Macrovesicular hepatic steatosis J-shaped sella turcica Obstructive lung disease Hypoplastic acetabulae Synophrys Pectus carinatum Thin vermilion border Pulmonary artery stenosis Tapered finger Full cheeks Tetralogy of Fallot Congenital diaphragmatic hernia Broad thumb Proximal placement of thumb Hypoplastic left heart Atrioventricular canal defect Transposition of the great arteries Biparietal narrowing External ear malformation Abnormal aortic morphology Abnormal pyramidal sign Enlarged thorax Anemia Flexion contracture Hepatomegaly Optic atrophy Respiratory distress Splenomegaly Thrombocytopenia Recurrent respiratory infections Hepatosplenomegaly Proteinuria Respiratory tract infection Widened posterior fossa



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