Cardiomyopathy, and Delayed skeletal maturation

Diseases related with Cardiomyopathy and Delayed skeletal maturation

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

Top matches:

Medium match BETA-THALASSEMIA

Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Other less relevant matches:

Medium match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

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

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Delayed skeletal maturation

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cardiomyopathy and Delayed skeletal maturation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertrophic cardiomyopathy Anemia Failure to thrive Cognitive impairment Diabetes mellitus Short nose Mandibular prognathia Depressed nasal bridge Arrhythmia Peripheral neuropathy Ventricular hypertrophy Dilatation Scoliosis Cafe-au-lait spot Severe short stature Growth hormone deficiency Hearing impairment Seizures Muscle weakness Hepatomegaly Fatigue Abnormality of the skeletal system Cryptorchidism Intrauterine growth retardation Microcephaly Intellectual disability, mild Osteoporosis Osteopenia Muscular hypotonia Recurrent infections Sensorineural hearing impairment Hypothyroidism Hypertelorism

Rare Symptoms - Less than 30% cases

Cardiomegaly Finger syndactyly Ptosis Thick vermilion border Abnormality of cardiovascular system morphology Optic atrophy Ataxia Delayed puberty Pyloric stenosis Prominent supraorbital ridges Abnormality of the dentition Accelerated skeletal maturation Immunodeficiency Abnormality of the foot Clinodactyly of the 5th finger Nystagmus Pectus carinatum Generalized hirsutism Hyperhidrosis Upslanted palpebral fissure Postnatal growth retardation Delayed speech and language development Micrognathia Hypospadias Abnormality of mitochondrial metabolism Left ventricular hypertrophy Exocrine pancreatic insufficiency Wide nasal bridge Short neck Myopathy Congestive heart failure Long philtrum Elevated hepatic transaminase Strabismus IgA deficiency Myocardial infarction Dilated cardiomyopathy Hepatic failure Hypertension Abnormal facial shape Bundle branch block Splenomegaly Skeletal dysplasia Delayed eruption of teeth Macrocephaly Specific learning disability Abnormality of the face Anteverted nares Feeding difficulties Hypertrichosis Diarrhea Joint laxity Elevated serum creatine phosphokinase Atlantoaxial dislocation Retinopathy Paralysis Nyctalopia Vertigo Muscular dystrophy Dysmenorrhea Limb muscle weakness Ophthalmoplegia Encephalopathy Acidosis Dementia Hyporeflexia Blindness Dysphagia Skeletal muscle atrophy Pain Rod-cone dystrophy Myoclonus Abnormal oral cavity morphology Hypogonadism Abnormality of skeletal muscle fiber size Congenital generalized lipodystrophy Reduced visual acuity Depressivity Abnormal levels of creatine kinase in blood Cerebellar hypoplasia Precocious puberty Loss of subcutaneous adipose tissue in limbs Ventriculomegaly Pulmonary arterial hypertension Epidermal acanthosis Recurrent fractures Hepatic steatosis Nephropathy Hirsutism Cirrhosis Abnormality of skin pigmentation Hyperlordosis Myalgia Renal insufficiency Flexion contracture Atrial fibrillation Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Multiple lentigines Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Shield chest Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Hypertriglyceridemia Palpitations Prolonged QTc interval Lipoatrophy Generalized lipodystrophy Arterial stenosis Bone cyst Exercise-induced myalgia Prominent superficial veins Broad foot Oligomenorrhea Progressive proximal muscle weakness Growth hormone excess Secondary amenorrhea Glomerulopathy Spinal rigidity Skeletal muscle hypertrophy Thickened skin Large hands Lipodystrophy Hyperinsulinemia Sensory neuropathy Polycystic ovaries Atherosclerosis Acanthosis nigricans Pancreatitis Muscle stiffness Abnormality of the hair Bradycardia Insulin resistance Lactic acidosis Heart block Muscle cramps Hypocalcemia Hydroureter Dextrocardia Congenital sensorineural hearing impairment Clitoral hypertrophy Portal hypertension Abnormality of the genitourinary system Oligodontia Widely spaced teeth Severe muscular hypotonia Hyperbilirubinemia Pointed chin Abnormality of the nail Agenesis of permanent teeth Situs inversus totalis Cholestasis Sparse scalp hair Hypoplasia of penis Microdontia Convex nasal ridge Underdeveloped nasal alae Intestinal malrotation Generalized muscle weakness Abdominal distention Hypoplasia of the maxilla Single transverse palmar crease Steatorrhea Glycosuria Anal atresia Skin dimples Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Increased VLDL cholesterol concentration Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Aplasia cutis congenita of scalp Anteriorly placed anus Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Rectovaginal fistula Hypoproteinemia Abnormal hair pattern Calvarial skull defect Fair hair Anal stenosis Facial cleft Hypoplastic nipples Hypopituitarism Downturned corners of mouth Malabsorption Syncope Bilateral ptosis Wolff-Parkinson-White syndrome Mitochondrial myopathy Increased CSF protein Hypoparathyroidism Progressive external ophthalmoplegia Primary adrenal insufficiency Renal tubular acidosis Basal ganglia calcification Adrenal insufficiency Hemiplegia/hemiparesis Ophthalmoparesis Nasal speech Hypomagnesemia Incoordination Atrioventricular block Ventricular arrhythmia Ragged-red muscle fibers Reduced tendon reflexes Leukoencephalopathy External ophthalmoplegia EMG abnormality Abnormality of retinal pigmentation Cerebral calcification Pigmentary retinopathy Memory impairment Hyperaldosteronism Severe lactic acidosis Hypotrichosis Low CSF 5-methyltetrahydrofolate Small for gestational age Abnormal cardiac septum morphology Abnormality of the liver Cleft lip Hydronephrosis Micropenis Alopecia Abnormal heart morphology Intellectual disability, severe Atrial septal defect Edema Ventricular septal defect Progressive intervertebral space narrowing Gait imbalance Second degree atrioventricular block Third degree atrioventricular block Adrenocorticotropin deficient adrenal insufficiency Folate deficiency Renal Fanconi syndrome First degree atrioventricular block Sideroblastic anemia Muscle fiber atrophy Titubation Abnormality of the mitochondrion Anterior hypopituitarism Stroke-like episode Redundant neck skin Low-set ears Right ventricular hypertrophy Peripheral axonal neuropathy Neoplasm Optic nerve hypoplasia Absence seizures Hip dysplasia Aciduria Esotropia Increased serum lactate Inability to walk Distal amyotrophy Long face Congenital cataract Syndactyly Muscular hypotonia of the trunk Deeply set eye High forehead Gait ataxia Absent speech Cerebellar atrophy Frontal bossing Myopia Spasticity Cataract Malar flattening Pneumonia No permanent dentition Otitis media Reduced number of teeth Hypopigmented skin patches Sacral dimple Azoospermia Narrow face Sinusitis Telangiectasia Bronchiectasis Cutaneous photosensitivity Type II diabetes mellitus Abnormality of the skin Recurrent respiratory infections Prominent nose Decreased antibody level in blood Lymphoma Ichthyosis Infertility Dolichocephaly Leukemia Skin rash Erythema Protruding ear Polydactyly Increased T3/T4 ratio Thyroid hormone receptor defect Squamous cell carcinoma Venous thrombosis Decreased mean corpuscular volume Hypochromic microcytic anemia Poikilocytosis Anemia of inadequate production Anisocytosis Abnormality of the skull Osteomalacia Microcytic anemia Cholelithiasis Reduced bone mineral density Hypogonadotrophic hypogonadism Abnormal hemoglobin Skin ulcer Hepatitis Postural instability Pallor Irritability Hepatosplenomegaly Jaundice Thrombocytopenia Respiratory insufficiency Fever Portal fibrosis Hypochromic anemia Long thorax Omphalocele Drowsiness Congenital hypothyroidism Relative macrocephaly Hypercholesterolemia Coxa vara Wormian bones Congenital hip dislocation Increased body weight Hoarse voice Clumsiness Broad-based gait Abnormality of temperature regulation Limb undergrowth Macroglossia Flat face Dry skin Hip dislocation Intellectual disability, moderate Constipation Talipes equinovarus Motor delay Reduced beta/alpha synthesis ratio Abnormality of iron homeostasis Hand polydactyly High pitched voice Premature skin wrinkling Broad first metatarsal Abnormality of the kidney Low-set, posteriorly rotated ears Neonatal hypotonia Hyperkeratosis Brachycephaly Posteriorly rotated ears Pectus excavatum Widened posterior fossa Congenital hypertrophy of left ventricle Hypoplastic ischiopubic rami Cuboid-shaped vertebral bodies Joint hyperflexibility Bilateral coxa valga 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 Pulmonic stenosis Triangular face Thick upper lip vermilion Bilateral cryptorchidism Sprengel anomaly Severe sensorineural hearing impairment Curly hair Neuroblastoma Multiple cafe-au-lait spots Freckling Atrioventricular canal defect Decreased fertility Abnormality of the ear External genital hypoplasia Melanocytic nevus Nevus Abnormality of the voice Myelodysplasia Hyperextensible skin Melanoma Spina bifida occulta Scapular winging Subcutaneous nodule Abnormality of the genital system Mitral valve prolapse Tetralogy of Fallot Webbed neck Broad ribs Ovoid vertebral bodies Pulmonary fibrosis IgM deficiency Patent ductus arteriosus Epicanthus Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females Abnormality of chromosome stability Abnormality of the nose Coarse facial features Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Chromosome breakage Hypoplasia of the zygomatic bone Acute leukemia IgG deficiency Hodgkin lymphoma Acute myeloid leukemia Myeloid leukemia Telangiectasia of the skin Prominent forehead Umbilical hernia Short hallux Coxa valga Thickened calvaria Thin ribs Abnormal heart valve morphology Pericardial effusion Broad hallux Flared metaphysis Large for gestational age Metaphyseal widening Elevated alkaline phosphatase Bicuspid aortic valve Low anterior hairline Anxiety Lymphedema Gingival overgrowth Long eyelashes Abnormality of the metaphysis Thick lower lip vermilion Low posterior hairline Short distal phalanx of finger Thick eyebrow Narrow chest Platyspondyly Wide mouth Midline skin dimples over anterior/posterior fontanelles


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