Cardiomyopathy, and Flat face

Diseases related with Cardiomyopathy and Flat face

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


Top matches:

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Medium match D-2-HYDROXYGLUTARIC ACIDURIA


D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Medium match COG7-CDG


COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

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Other less relevant matches:

Medium match COMPLEX LETHAL OSTEOCHONDRODYSPLASIA


Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

Medium match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Low match AL-RAQAD SYNDROME; ARS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Low match DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

Low match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Low match ABRUZZO-ERICKSON SYNDROME


Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

Low match HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2


Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Flat face

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Seizures Global developmental delay Generalized hypotonia Anteverted nares Micrognathia Wide nasal bridge Respiratory insufficiency Hypertelorism Muscular hypotonia Short neck Hypertrophic cardiomyopathy Malar flattening Hypospadias Cryptorchidism Narrow mouth Cognitive impairment Hearing impairment

Rare Symptoms - Less than 30% cases


Thoracic hypoplasia Aciduria Atrial septal defect Sensorineural hearing impairment Conductive hearing impairment Protruding ear Facial asymmetry Hepatomegaly Cerebral cortical atrophy Epicanthus Brachycephaly Prominent forehead Encephalopathy Failure to thrive Congestive heart failure Brachydactyly Short nose Webbed neck Pulmonary hypoplasia Short stature Cleft lip Posteriorly rotated ears Inguinal hernia Ventricular septal defect Disproportionate short-limb short stature Intrauterine growth retardation Flexion contracture Umbilical hernia Neonatal hypotonia Adducted thumb Abnormality of the pinna Abnormality of the kidney Cerebral atrophy Small for gestational age Behavioral abnormality Feeding difficulties Skeletal dysplasia Intellectual disability, moderate Limb undergrowth Wormian bones Talipes equinovarus Macrocephaly Depressed nasal bridge Motor delay Anemia Joint laxity Ventriculomegaly Blepharophimosis Dilatation Delayed skeletal maturation Erysipelas Thin upper lip vermilion Deeply set eye Abnormal cardiac septum morphology Unsteady gait Inability to walk Hypopigmentation of the skin Sandal gap Hyperplasia of the maxilla Joint stiffness Severe short stature Elevated serum creatine phosphokinase Narrow chest Micromelia Overgrowth Blue sclerae Depressed nasal ridge Abnormality of the metaphysis Bowing of the long bones Short long bone Abnormality of pelvic girdle bone morphology Calvarial skull defect Absent speech Abnormal pulmonary valve morphology Neonatal short-limb short stature Oligohydramnios Retrognathia Pulmonary lymphangiectasia Hypothyroidism Constipation Wide mouth Irregular dentition Camptodactyly of finger Short philtrum Lactic acidosis Premature birth Increased serum lactate Interphalangeal joint contracture of finger Gastroparesis Pulmonary arterial hypertension Intention tremor Microretrognathia Leukoencephalopathy Aplasia/Hypoplasia of the corpus callosum Hyperammonemia Encephalitis Flat occiput Abnormal aortic valve morphology Moderate global developmental delay 3-Methylglutaconic aciduria Hyperalaninemia Abnormality of the abdominal wall Anisospondyly Microtia Abnormal palate morphology Decreased cervical spine mobility Limited neck range of motion Decreased antibody level in blood Abnormality of the dentition Macrotia Coloboma Toe syndactyly Iris coloboma Microcornea Choanal atresia Short toe Radioulnar synostosis Cervical C2/C3 vertebral fusion Chorioretinal coloboma Ulnar deviation of finger Abnormal localization of kidney Dimple chin Coronal hypospadias Edema Intellectual disability, severe Intellectual disability, mild Syndactyly Osteoporosis Camptodactyly Abnormal vertebral segmentation and fusion Aplasia of the ulna Intestinal lymphangiectasia Abnormality of the ribs Scoliosis Hypoproteinemia High palate Abnormality of cardiovascular system morphology Acidosis Lymphopenia Lymphedema Anal atresia Cleft upper lip Postaxial polydactyly Wide intermamillary distance Low posterior hairline Congenital muscular torticollis Spina bifida Renal hypoplasia/aplasia Hemiplegia/hemiparesis Vertebral fusion Abnormality of the vertebral column Sprengel anomaly Abnormal cranial nerve morphology Ectopic anus Fused cervical vertebrae Short sternum Abnormality of the shoulder Abnormal sacrum morphology Polydactyly Long philtrum Respiratory failure No permanent dentition Episodic vomiting Generalized tonic seizures Inspiratory stridor Narrow naris Anteverted ears Infantile encephalopathy Glutaric aciduria Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Multifocal cerebral white matter abnormalities Increased T3/T4 ratio Fever Delayed CNS myelination Abnormality of the skeletal system Thyroid hormone receptor defect Diarrhea Long thorax Recurrent infections Thrombocytopenia Areflexia Abnormal heart morphology Jaundice Hepatosplenomegaly Elevated hepatic transaminase Proteinuria Periventricular leukomalacia Dilation of lateral ventricles Congenital hypothyroidism Broad nasal tip Blindness Respiratory distress Myoclonus Frontal bossing Hyperactivity Visual impairment Mandibular prognathia Coarse facial features Apnea Irritability Dolichocephaly Lethargy Muscle weakness Increased CSF protein Focal-onset seizure Epileptic encephalopathy Hypsarrhythmia Involuntary movements Cerebral visual impairment Absence seizures Severe muscular hypotonia Aortic regurgitation Shock Focal impaired awareness seizure Stridor Turricephaly Drowsiness Abnormality of the liver Arrhythmia Short femur Recurrent fractures Ascites Delayed eruption of teeth Cardiomegaly Hydrops fetalis Short ribs Dry skin Pleural effusion Flared metaphysis Hip dislocation Single umbilical artery Decreased skull ossification Unilateral cleft lip Platyspondyly Multiple prenatal fractures Large fleshy ears Beaded ribs Multiple rib fractures Fractured radius Decreased fibular diameter Ataxia Cataract Hypertension Tremor Cerebellar atrophy Vomiting Macroglossia Broad-based gait Arthrogryposis multiplex congenita Abnormal glycosylation Thick vermilion border Polyneuropathy Delayed myelination Dehydration Cholestasis Relative macrocephaly Abnormality of immune system physiology Protruding tongue Inverted nipples Distal arthrogryposis Premature skin wrinkling Areflexia of lower limbs Mild proteinuria Telecanthus Hypercholesterolemia Coxa vara Congenital hip dislocation Increased body weight Hoarse voice Clumsiness Cerebellar hypoplasia Omphalocele Micropenis Polyhydramnios Osteopenia Hydronephrosis Pericardial lymphangiectasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Lymphadenopathy, related diseases and genetic alterations Congestive heart failure and Respiratory tract infection, related diseases and genetic alterations Low-set ears and Hydronephrosis, related diseases and genetic alterations Ptosis and Ventricular septal defect, related diseases and genetic alterations Scoliosis and Tetraparesis, related diseases and genetic alterations Scoliosis and Dysarthria, related diseases and genetic alterations

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