Cardiomyopathy, and Narrow chest

Diseases related with Cardiomyopathy and Narrow chest

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


Top matches:

Medium match RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2


RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016).For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (OMIM ).

Related symptoms:

  • Hepatomegaly
  • Talipes equinovarus
  • Hypertrophic cardiomyopathy
  • Pulmonic stenosis
  • Narrow chest


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2

Medium match CHILDHOOD-ONSET NEMALINE MYOPATHY


Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Medium match TORIELLO-CAREY SYNDROME


Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Medium match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Medium match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Medium match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Medium match SHWACHMAN-DIAMOND SYNDROME


Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Low 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Narrow chest

Symptoms // Phenotype % cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Growth delay Hepatomegaly Hypertelorism Short ribs Prominent forehead Depressed nasal bridge Osteopenia Delayed skeletal maturation Anteverted nares Scoliosis Hypertension Cardiomegaly Short stature Metaphyseal widening Failure to thrive Dilatation Skeletal dysplasia Neoplasm Muscular hypotonia Recurrent infections Platyspondyly Short palm Polyhydramnios Ovoid vertebral bodies Wide nasal bridge Flexion contracture Thin vermilion border Global developmental delay Cerebellar hypoplasia Abnormality of the metaphysis Accelerated skeletal maturation Metaphyseal chondrodysplasia Short nose

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Brachydactyly Cleft palate Cataract Low-set ears Congestive heart failure Skeletal muscle atrophy Myocardial infarction Microcephaly Splenomegaly Lipodystrophy Insulin resistance Hypertriglyceridemia Hepatic steatosis Acanthosis nigricans Atherosclerosis Hirsutism Hyperlipidemia Hyperinsulinemia Abnormal facial shape Infertility Short clavicles Osteolytic defects of the phalanges of the hand Prominent superficial veins Angina pectoris Absence of subcutaneous fat Hearing impairment Thin skin Lipoatrophy Telecanthus Ventricular septal defect Heart block Rhizomelia Sparse and thin eyebrow Hypocalcemia Disproportionate short-limb short stature Cone-shaped epiphysis Short thorax Metaphyseal dysplasia Exocrine pancreatic insufficiency Thrombocytosis Aplastic anemia Convex nasal ridge Metaphyseal cupping Long fibula Metaphyseal dysostosis Carious teeth Hyperphosphatemia Posteriorly rotated ears Limb undergrowth Thoracic hypoplasia Myocardial necrosis Small for gestational age Abnormality of the ribs Neutropenia Respiratory distress Anemia Atrial septal defect Hypospadias Agenesis of corpus callosum Respiratory failure Abnormal cardiac septum morphology Postural instability Pachygyria Sparse eyelashes Neonatal respiratory distress Tracheal stenosis Respiratory insufficiency Malabsorption Immunodeficiency Thrombocytopenia Alopecia Brachycephaly Macrotia Carcinoma Talipes equinovarus Pectus carinatum Leukemia Hypotrichosis Bilateral coxa valga Sparse hair Epicanthus Thin ribs Intellectual disability, mild Macrocephaly High palate Generalized hirsutism Coxa valga Arthrogryposis multiplex congenita Osteoporosis Ptosis Delayed speech and language development Strabismus Myopathy Flared metaphysis Gingival overgrowth Oligohydramnios Aortic valve stenosis Patent ductus arteriosus Femoral bowing Pulmonary hypoplasia Pulmonic stenosis Nasal speech Osteolysis Intracranial hemorrhage Aspiration Increased bone mineral density Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Heart murmur Aminoaciduria Keratoconjunctivitis sicca Hypercholesterolemia Dermal atrophy Relative macrocephaly Premature ovarian insufficiency Scleroderma Exertional dyspnea Prolonged QT interval Premature graying of hair High pitched voice Multiple joint contractures Abnormality of the thorax Short hallux Hypoplastic nipples Thin bony cortex Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Hip pain Aplastic clavicle Narrow nasal ridge Arteriosclerosis Carcinoid tumor Prolonged prothrombin time Decreased serum estradiol Enlarged joints Renal cell carcinoma Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Small face Generalized osteoporosis Lack of skin elasticity Cholestasis Down-sloping shoulders Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Alopecia of scalp Hypohidrosis Abnormality of the cardiovascular system Dental crowding Abnormality of the distal phalanx of finger Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Non-Hodgkin lymphoma Situs inversus totalis Narrow vertebral interpedicular distance Abnormal T cell morphology Pain Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Sensorineural hearing impairment Abnormality of the dentition Left ventricular hypertrophy Hepatic fibrosis Decreased body weight Broad-based gait Osteoarthritis Intermittent claudication Cyanosis Nail dysplasia Growth hormone deficiency Limitation of joint mobility Chest pain Hypodontia Delayed eruption of teeth Delayed puberty Hypermetropia Kyphosis Dilated cardiomyopathy Hip dislocation Microtia Stroke Joint stiffness Conductive hearing impairment Dyspnea Proptosis Narrow mouth Hypogonadism Dementia Midface retrusion Malar flattening Corneal arcus Craniofacial disproportion Widely patent fontanelles and sutures Nephrocalcinosis Recurrent aphthous stomatitis Acute monocytic leukemia Recurrent viral infections Acute myeloid leukemia Myeloid leukemia Multiple lipomas Steatorrhea Myelodysplasia Leukopenia Coxa vara Recurrent bacterial infections Type I diabetes mellitus Metaphyseal sclerosis Bone marrow hypocellularity Decreased liver function Pancytopenia Apraxia Eczema Microdontia Specific learning disability Sepsis Generalized muscle weakness Ichthyosis Respiratory tract infection Elevated hepatic transaminase Anterior rib cupping Persistence of hemoglobin F 11 thoracic vertebrae Hydrops fetalis Fractured radius Multiple rib fractures Beaded ribs Large fleshy ears Multiple prenatal fractures Unilateral cleft lip Short femur Decreased skull ossification Single umbilical artery Pleural effusion Adducted thumb Wormian bones Webbed neck Paroxysmal nocturnal hemoglobinuria Ascites Recurrent fractures Flat face Cleft lip Hydronephrosis Micropenis Ventriculomegaly Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Gait disturbance Horizontal inferior border of scapula Parietal bossing Tapering pointed ends of distal finger phalanges Systemic lupus erythematosus Poor suck Atrioventricular block Short long bone Lissencephaly Short toe Short phalanx of finger Renal agenesis Short metacarpal Apnea Arrhythmia Seizures Arteriosclerosis of small cerebral arteries Metaphyseal irregularity Regional abnormality of skin Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Absence of pubertal development Carotid artery stenosis Narrow nasal tip Old-aged sensorineural hearing impairment Reticulated skin pigmentation Hypoplastic facial bones Prominent scalp veins Bird-like facies Mitral valve calcification Redundant skin Abnormality of neuronal migration Irregular tarsal bones Porencephalic cyst Widened sacrosciatic notch Focal lissencephaly Iliac crest serration Cone-shaped metacarpal epiphyses Rhizomelic arm shortening Abnormality of the scapula Large posterior fontanelle Pulmonary hemorrhage Cupped ribs Third degree atrioventricular block Narrow greater sacrosciatic notches Coronal cleft vertebrae Spondylometaphyseal dysplasia Renal cyst Flared iliac wings 11 pairs of ribs Myocarditis Hypoplastic iliac wing Flat acetabular roof Delayed epiphyseal ossification Cone-shaped epiphyses of the phalanges of the hand Cardiorespiratory arrest Turricephaly Disproportionate short stature Short finger Cortical gyral simplification Abnormality of chromosome stability Generalized joint laxity Cellular immunodeficiency Eclampsia Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Increased facial adipose tissue Abnormality of complement system Adipose tissue loss Osteopoikilosis Increased intraabdominal fat Abnormality of skeletal muscle fiber size Increased adipose tissue around the neck Congenital generalized lipodystrophy Increased intramuscular fat Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Wide mouth Generalized lipodystrophy Abnormality of the menstrual cycle Acute pancreatitis Hyperlipoproteinemia Advanced eruption of teeth Decreased HDL cholesterol concentration Xanthomatosis Finger syndactyly Thick eyebrow Labial pseudohypertrophy Anxiety Short distal phalanx of finger Increased muscle lipid content Type 1 muscle fiber predominance Breech presentation Blepharophimosis Postnatal growth retardation Abnormality of the pinna Slender build Retrognathia Poor fine motor coordination Reduced vital capacity Generalized limb muscle atrophy Abnormal heart morphology Clinodactyly Hernia Umbilical hernia Abnormality of cardiovascular system morphology Syndactyly Fatigable weakness of bulbar muscles Vomiting Neuromuscular dysphagia Hydrocephalus Hypoplasia of the corpus callosum Dysphagia Downslanted palpebral fissures Cryptorchidism Long philtrum Coarse facial features Peripheral arterial stenosis Maternal diabetes Nemaline bodies Hypoplastic ischiopubic rami Myalgia High forehead Diabetes mellitus Pectus excavatum Obesity Large for gestational age Broad hallux Pericardial effusion Abnormal heart valve morphology Widened posterior fossa Congenital hypertrophy of left ventricle Broad first metatarsal Elevated alkaline phosphatase Cuboid-shaped vertebral bodies Thickened calvaria Congenital, generalized hypertrichosis Erlenmeyer flask deformity of the femurs Concentric hypertrophic cardiomyopathy Curly eyelashes Large sella turcica Deep plantar creases Generalized hypertrichosis Esodeviation Broad hallux phalanx Broad ribs Papule Pyloric stenosis Abnormality of lipid metabolism Low posterior hairline Insulin-resistant diabetes mellitus Thick vermilion border Hyperuricemia Secondary amenorrhea Glomerulopathy Aplasia/Hypoplasia of the skin Ventricular hypertrophy Cellulitis Reduced subcutaneous adipose tissue Coronary artery atherosclerosis Skeletal muscle hypertrophy Hyperglycemia Thick lower lip vermilion Prominent supraorbital ridges Polycystic ovaries Cranial nerve paralysis Hypertrichosis Long eyelashes Pancreatitis Spontaneous abortion Abnormality of the nail Lymphedema Low anterior hairline Epidermal acanthosis Round face Bicuspid aortic valve Downturned corners of mouth Abdominal distention Enlarged kidney Aganglionic megacolon Sacral dimple Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Feeding difficulties Motor delay Lymphopenia Abnormality of retinal pigmentation Areflexia Abnormality of epiphysis morphology Bronchiectasis Bowing of the long bones Genu varum Abnormal form of the vertebral bodies Depressed nasal ridge Fine hair Blue sclerae Lumbar hyperlordosis Hyporeflexia Pes cavus Decreased antibody level in blood Gastrointestinal hemorrhage Lymphoma Hypopigmentation of the skin Difficulty walking Abnormality of pelvic girdle bone morphology Portal hypertension Joint hypermobility Distal arthrogryposis Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Truncus arteriosus B-cell lymphoma Thick upper lip vermilion Fair hair Asplenia Upper limb undergrowth Overweight Agenesis of cerebellar vermis Cystic renal dysplasia Esophageal atresia Squamous cell carcinoma Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Macrocytic anemia Heterotaxy High hypermetropia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Limited elbow extension Mesomelia Pancreatic dysplasia Small hand Micromelia Full cheeks Facial diplegia Entropion Redundant neck skin Abnormality of the larynx Cleft soft palate Neck muscle weakness Pierre-Robin sequence Double outlet right ventricle Tracheomalacia Anteriorly placed anus Hypoplastic left heart Bilateral cryptorchidism Proximal placement of thumb Extramedullary hematopoiesis Abnormality of the genitourinary system Microretrognathia Fetal akinesia sequence Narrow palpebral fissure Wide anterior fontanel Large fontanelles Bulbar signs Abnormality of the genital system Short palpebral fissure Cerebellar vermis hypoplasia Small nail Intestinal malrotation Endocardial fibroelastosis Anotia Joint hyperflexibility Pneumonia Limb muscle weakness Long face Waddling gait Bradykinesia Hyperlordosis Low-set, posteriorly rotated ears Joint laxity Clumsiness EEG abnormality Narrow face Muscle stiffness Severe short stature Exercise intolerance Bronchomalacia Constipation Scapular winging Respiratory insufficiency due to muscle weakness Diarrhea EMG: myopathic abnormalities Myopia Visual impairment Increased variability in muscle fiber diameter Cognitive impairment Mildly elevated creatine phosphokinase Spinal rigidity Laryngeal hypoplasia Decreased fibular diameter



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Microdontia, related diseases and genetic alterations Macrocephaly and Anxiety, related diseases and genetic alterations Lymphoma and Depressivity, related diseases and genetic alterations Brachydactyly and Short metacarpal, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more