Hypertelorism, and Cardiomyopathy

Diseases related with Hypertelorism and Cardiomyopathy

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

Top matches:

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

Other less relevant matches:

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

Medium match GRANGE SYNDROME

Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Related symptoms:

  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about INTERMEDIATE NEMALINE MYOPATHY

EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Top 5 symptoms//phenotypes associated to Hypertelorism and Cardiomyopathy

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Webbed neck Uncommon - Between 30% and 50% cases
Pulmonic stenosis Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Cardiomyopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Low-set ears Intellectual disability Global developmental delay Dysphagia Curly hair Flexion contracture Short neck Generalized hypotonia Macrocephaly Epicanthus Motor delay Atrial septal defect Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases

Skeletal muscle atrophy Congestive heart failure Abnormality of the thorax Ventricular septal defect Decreased fetal movement Patent ductus arteriosus Abnormal heart morphology High palate Peripheral neuropathy Myopia Hyperkeratosis Abnormal cardiac septum morphology Muscle weakness Sparse hair Areflexia Broad forehead Peripheral axonal neuropathy Bilateral ptosis Premature birth Severe muscular hypotonia Generalized muscle weakness Facial palsy Respiratory failure Specific learning disability Multiple prenatal fractures Myopathic facies High forehead Low-set, posteriorly rotated ears Edema Depressed nasal bridge Abnormality of the sternum Mandibular prognathia Arrhythmia Abnormal facial shape Cafe-au-lait spot Cryptorchidism Type 1 muscle fiber predominance Dilated cardiomyopathy Ankle contracture Difficulty running Centrally nucleated skeletal muscle fibers Difficulty climbing stairs EMG: myopathic abnormalities Calf muscle hypertrophy Congenital muscular dystrophy Radioulnar synostosis Micropenis Knee flexion contracture Muscular dystrophy Hypospadias Hip dislocation Anemia Neonatal hypotonia Left ventricular noncompaction Elevated serum creatine phosphokinase Hepatomegaly Myopathy Hypokinesia Facial diplegia Nemaline bodies Scoliosis Splenomegaly Cleft soft palate Increased endomysial connective tissue Abnormal levels of creatine kinase in blood Muscle fiber atrophy Long eyebrows Asymmetry of the thorax Broad neck Relative macrocephaly Growth hormone deficiency Leukemia Intellectual disability, mild Wide nasal bridge Delayed speech and language development Sensorineural hearing impairment Growth delay Hearing impairment Fractures of the long bones Diaphragmatic eventration Secundum atrial septal defect Wide anterior fontanel Hypohidrosis Minicore myopathy Mitochondrial depletion Respiratory distress Narrow mouth Pulmonary hypoplasia Oligohydramnios Microretrognathia Axonal loss Patent foramen ovale Congenital contracture Spinal muscular atrophy Neonatal respiratory distress Increased variability in muscle fiber diameter Generalized amyotrophy Hydrops fetalis Anemia of inadequate production Hyperbilirubinemia Abdominal pain Intellectual disability, borderline Arterial stenosis Gastritis Perimembranous ventricular septal defect Cutaneous finger syndactyly Increased susceptibility to fractures Bicuspid aortic valve Cutaneous syndactyly Aortic regurgitation Finger clinodactyly Decreased body weight Recurrent fractures Short palm Cubitus valgus Renal artery stenosis Clinodactyly Dilatation Syndactyly Renal insufficiency Multiple lentigines Brachydactyly Hypertension Pain Failure to thrive Abdominal wall muscle weakness Abnormality of the lymphatic system Abnormality of the helix Multiple cafe-au-lait spots Prolonged bleeding time Coronary artery stenosis Renovascular hypertension Reticulocytosis Absent eyebrow High, narrow palate Ophthalmoplegia Abnormality of the face Fetal distress Difficulty walking Polyhydramnios Normochromic anemia Hyporeflexia Congenital hypoplastic anemia Long philtrum Erythroid hyperplasia Neuropathic arthropathy Arthropathy Sparse eyebrow Carotid artery stenosis Prominent forehead Hemangioma Fine hair Mitral valve prolapse Ichthyosis Wide mouth Thick vermilion border Coarse facial features Proptosis Posteriorly rotated ears Anteverted nares Dolichocephaly Dry skin Thick lower lip vermilion Juvenile myelomonocytic leukemia


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