Cardiomyopathy, and Severe short stature

Diseases related with Cardiomyopathy and Severe short stature

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


Top matches:

Medium match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Medium match SEPTOOPTIC DYSPLASIA


Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

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

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Other less relevant matches:

Medium match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Medium match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Medium match MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Medium match KEARNS-SAYRE SYNDROME


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

Medium match MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7


Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Medium match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Medium match JOHANSON-BLIZZARD 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 Severe short stature

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Severe short stature. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Generalized hypotonia Cognitive impairment Pigmentary retinopathy Failure to thrive Congestive heart failure Diabetes mellitus Arrhythmia Retinopathy Dilated cardiomyopathy Abnormal facial shape Intrauterine growth retardation Growth hormone deficiency Hepatomegaly Postnatal growth retardation Delayed skeletal maturation Dolichocephaly Short nose Diarrhea Hypertrichosis Cafe-au-lait spot Sensorineural hearing impairment Ptosis Hydrocephalus Flexion contracture Motor delay Blindness Corneal opacity Hypertrophic cardiomyopathy Widely spaced teeth Exercise intolerance Spastic tetraplegia Muscular hypotonia Macrocephaly Edema Hypogonadism Hepatosplenomegaly Tetraplegia Abnormality of retinal pigmentation Micrognathia Visual impairment Mild short stature Nystagmus Spasticity Cryptorchidism Micropenis Syndactyly Hypothyroidism Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases


External ophthalmoplegia Leukoencephalopathy Ragged-red muscle fibers Hypertelorism Intellectual disability, moderate Strabismus Abnormality of the nervous system Prominent nose Wide nasal bridge Small for gestational age Ventriculomegaly Depressivity Feeding difficulties Generalized muscle weakness Mitral regurgitation Hypertonia Muscle weakness Hypoplasia of the corpus callosum Talipes equinovarus Optic atrophy Dysphagia Myopathy Dementia Abdominal distention Myoclonus Respiratory failure Acidosis Respiratory tract infection Ophthalmoplegia Lactic acidosis Ascites Reduced tendon reflexes Pointed chin Atrial septal defect Fatigue Vertigo Exocrine pancreatic insufficiency Dilatation Hernia Dyspnea Ventricular septal defect Abnormality of cardiovascular system morphology Heparan sulfate excretion in urine Hypospadias Abnormal heart morphology Abnormal cardiac septum morphology Anal atresia Abnormality of the nail Clitoral hypertrophy Anteriorly placed anus Dermatan sulfate excretion in urine Dysostosis multiplex Polydactyly Rod-cone dystrophy Scaphocephaly J-shaped sella turcica Short neck Cerebellar hypoplasia Splenomegaly Kyphosis Inguinal hernia Coarse facial features Abnormal heart valve morphology Umbilical hernia Pneumonia Neurodegeneration Delayed eruption of teeth Macroglossia Absent speech Intellectual disability, progressive Incoordination Ataxia Hypocalcemia High pitched voice Erythema Hypopituitarism Specific learning disability Absent septum pellucidum Type II diabetes mellitus Abnormality of the dentition Skin rash Recurrent infections Colpocephaly Neoplasm Intellectual disability, mild Clinodactyly of the 5th finger Anemia Pulmonary fibrosis Sacral dimple Hypopigmented skin patches Infertility Decreased antibody level in blood Retrognathia Glaucoma Abnormality of metabolism/homeostasis Visual loss Coloboma Midface retrusion Severe vision loss Microphthalmia Amniotic constriction ring Respiratory distress Panhypopituitarism Cataract Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Blepharophimosis IgM deficiency Short finger Status epilepticus Anophthalmia Optic nerve hypoplasia Patent foramen ovale Dermal atrophy Mutism Abnormality of dental enamel Precocious puberty Hyperpigmentation of the skin Amblyopia Congenital diaphragmatic hernia Nail dystrophy Ambiguous genitalia Mitral valve prolapse Hypopigmentation of the skin Retinal dystrophy Iris coloboma Wide nose Tachycardia Anterior beaking of lumbar vertebrae Abnormality of skin pigmentation Diabetes insipidus Decreased pulmonary function Narrow greater sacrosciatic notches Pseudoarthrosis Polyhydramnios Thick eyebrow Facial asymmetry Genu valgum Poor speech Platyspondyly Pectus carinatum Hyperlordosis Muscular hypotonia of the trunk Skeletal dysplasia Kyphoscoliosis Adrenocorticotropic hormone deficiency Webbed neck Mandibular prognathia Cavum septum pellucidum Abnormality of the skeletal system Epicanthus Scoliosis Low CSF 5-methyltetrahydrofolate Progressive intervertebral space narrowing Second degree atrioventricular block Third degree atrioventricular block Adrenocorticotropin deficient adrenal insufficiency Folate deficiency Hirsutism Hip dysplasia Snoring Thoracic kyphosis Tricuspid regurgitation Thoracic kyphoscoliosis Prominent sternum Acetabular dysplasia Thoracolumbar kyphosis Pulmonary insufficiency Recurrent ear infections Broad ribs Nonimmune hydrops fetalis Thoracolumbar scoliosis Spinal cord compression Hypoplasia of the odontoid process Lumbar hyperlordosis Hyperactive deep tendon reflexes Metatarsus adductus Spondyloepiphyseal dysplasia Pleural effusion Pterygium Recurrent upper respiratory tract infections Opacification of the corneal stroma Cardiac arrest Hydrops fetalis Gingival overgrowth Broad-based gait Ventricular fibrillation Congenital glaucoma Preauricular pit Cholestasis Steatorrhea Hydroureter Dextrocardia Congenital sensorineural hearing impairment Portal hypertension Abnormality of the genitourinary system Oligodontia Severe muscular hypotonia Hyperbilirubinemia Situs inversus totalis Sparse scalp hair Glycosuria Hypoplasia of penis Microdontia Convex nasal ridge Underdeveloped nasal alae Intestinal malrotation Hypoplasia of the maxilla Single transverse palmar crease Downturned corners of mouth Hepatic failure Malabsorption Agenesis of permanent teeth Hypoplastic nipples Abnormality of the liver Uterus didelphys 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 Frontal upsweep of hair Facial cleft Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Rectovaginal fistula Hypoproteinemia Abnormal hair pattern Calvarial skull defect Fair hair Anal stenosis Hypotrichosis Cleft lip Albinism Male pseudohermaphroditism Abnormality of earlobe Chordee Periventricular leukomalacia Abnormality of the testis Supraventricular tachycardia Echolalia Retinal dysplasia Abnormal eyelid morphology Ocular albinism Sclerocornea Abnormal eyelash morphology Abnormal nasolacrimal system morphology Posterior embryotoxon Anencephaly Aplasia cutis congenita Cerebral palsy Aplasia/Hypoplasia of the skin Abnormality of the ear First degree atrioventricular block Hypoplasia of the uterus Dysphasia Aphasia Epispadias Tricuspid valve prolapse Joint laxity Abnormality of the rectum Hydronephrosis Elevated hepatic transaminase Upslanted palpebral fissure Alopecia Long philtrum Intellectual disability, severe Hypertension Anal fistula Asymmetric, linear skin defects Cleft earlobe Vitritis Abnormality of the anus Histiocytoid cardiomyopathy Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Abnormality of the penis Mandibular aplasia Overriding aorta Renal Fanconi syndrome Hypomagnesemia Sideroblastic anemia Sloping forehead Small hand Short foot Abnormality of the skin Frontal bossing Round face Otitis media Dysarthria Depressed nasal bridge High palate Cutaneous photosensitivity Lymphoma Autism Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Increased intramyocellular lipid droplets Hemolytic-uremic syndrome Paraganglioma Left ventricular noncompaction Craniosynostosis Ichthyosis Preeclampsia Dental crowding Protruding ear Insulin-resistant diabetes mellitus Pericarditis Slender long bone Nephroblastoma Premature ovarian insufficiency Cachexia Acanthosis nigricans Increased body weight Insulin resistance Epidermal acanthosis Broad forehead Overgrowth Cyanosis Nevus Finger syndactyly Triangular face Leukemia Hypodontia Cirrhosis Astigmatism Delayed puberty Ketonuria Ketosis Myocardial fibrosis Hypoplastic pelvis Acute myeloid leukemia IgA deficiency Vomiting Hodgkin lymphoma Fever IgG deficiency Acute leukemia Hyperreflexia Hypoplasia of the zygomatic bone Chromosome breakage Obesity Myeloid leukemia Chronic lung disease Chronic obstructive pulmonary disease Abnormality of the nose 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 Dystonia Babinski sign Rhabdomyolysis Increased serum lactate Oral-pharyngeal dysphagia Easy fatigability Abnormality of the face Bronchiectasis Telangiectasia Congenital hip dislocation Leukodystrophy Sinusitis Narrow face Cortical gyral simplification Generalized myoclonic seizures Telangiectasia of the skin Azoospermia Partial agenesis of the corpus callosum Restrictive cardiomyopathy Metaphyseal sclerosis Reduced number of teeth Developmental regression Hand polydactyly Proximal muscle weakness Neonatal hypotonia Squamous cell carcinoma Microglossia Prominent superficial veins Muscle fiber atrophy Anterior pituitary hypoplasia EMG abnormality Left ventricular hypertrophy Ventricular hypertrophy Cardiomegaly Cerebral calcification Memory impairment Syncope Muscle cramps Sensory neuropathy Limb muscle weakness Atrioventricular block Muscular dystrophy Nyctalopia Paralysis Reduced visual acuity Elevated serum creatine phosphokinase Hyporeflexia Encephalopathy Optic disc hypoplasia Skeletal muscle atrophy Peripheral neuropathy Ventricular arrhythmia Nasal speech Heterotopia Increased CSF protein Titubation Abnormality of the mitochondrion Anterior hypopituitarism Stroke-like episode Gait imbalance Severe lactic acidosis Abnormality of chromosome stability Hyperaldosteronism Heart block Mitochondrial myopathy Hypoparathyroidism Bilateral ptosis Progressive external ophthalmoplegia Hemianopia Primary adrenal insufficiency Renal tubular acidosis Basal ganglia calcification Bundle branch block Adrenal insufficiency Hemiplegia/hemiparesis Ophthalmoparesis Abnormality of mitochondrial metabolism Pain Ectopic posterior pituitary Weak voice Pes cavus Asthma Postural instability Talipes Abnormality of the cerebral white matter Attention deficit hyperactivity disorder Apnea Abnormality of eye movement Malar flattening Osteopenia Immunodeficiency Severe global developmental delay Thick lower lip vermilion Recurrent respiratory infections Hyperhidrosis Abnormality of the eye Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses Hypoglycemia Absent frontal sinuses Peripheral edema Fibroma Intellectual disability, profound Tetraparesis Retinoschisis Bitemporal hemianopia Tracheobronchomalacia Cervical cord compression Urinary glycosaminoglycan excretion Septo-optic dysplasia Retinal fold Intestinal pseudo-obstruction Myelopathy Pituitary dwarfism Obstructive sleep apnea Papilledema Decreased circulating luteinizing hormone level Progressive neurologic deterioration Sleep apnea Corneal dystrophy Decreased circulating follicle stimulating hormone level Aortic regurgitation Spastic tetraparesis Elbow flexion contracture Hoarse voice Dehydration Split hand Recurrent otitis media Midline skin dimples over anterior/posterior fontanelles



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