Cardiomyopathy, and Micromelia

Diseases related with Cardiomyopathy and Micromelia

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


Top matches:

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 CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match BONE MARROW FAILURE SYNDROME 4; BMFS4


BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

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Other less relevant matches:

Low match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B


Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. ClassificationOn the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; {118210}). Distal hereditary motor neuropathy (dHMN) (see {158590}), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999).McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (OMIM ) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (OMIM ), CMT2A1 (OMIM ), CMT3 (DSS ), CMT4A (OMIM ), and CMTDIB (OMIM ). Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1Autosomal dominant demyelinating CMT1 is genetically heterogeneous disorder and can be caused by mutations in different genes (see CMT1A, {118220}; CMT1C, {601098}; CMT1D, {607678}), CMT1E (OMIM ), and CMT1F (OMIM ). See also {608236} for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B Is also known as hmsn1b|charcot-marie-tooth neuropathy, type 1b|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b|hereditary motor and sensory neuropathy ib|hereditary motor and sensory neuropathy i|hmsn i|peroneal muscular atrop

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

Low match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Low match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Low 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

Low match RETINITIS PIGMENTOSA 81; RP81


Related symptoms:

  • Polydactyly
  • Pallor
  • Micromelia
  • Retinal degeneration
  • Abnormality of skin pigmentation


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 81; RP81

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE


Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE Is also known as spondylometaphyseal dysplasia, sutcliffe type

Related symptoms:

  • Short stature
  • Scoliosis
  • Gait disturbance
  • Kyphosis
  • Kyphoscoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE

Low match SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Micromelia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anemia Delayed skeletal maturation Prominent forehead Joint laxity Relative macrocephaly Short ribs Small hand Rhizomelia Upper limb undergrowth Long philtrum Global developmental delay Low-set ears Thrombocytopenia Abnormal facial shape Depressed nasal bridge Cognitive impairment Scoliosis Anteverted nares Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases


Autistic behavior Thin upper lip vermilion Peripheral neuropathy Heart block Pain Hypertrophic cardiomyopathy Ataxia Hypoplasia of the odontoid process Respiratory tract infection Pallor Dry skin Limited elbow extension Hip dislocation Autism Pulmonic stenosis Diarrhea Cataract Genu varum Pulmonary hypoplasia High, narrow palate Coxa vara Blindness Short neck Pes cavus Macrocephaly Sensorineural hearing impairment Micrognathia Hypertelorism Microcephaly Neoplasm Generalized hypotonia Failure to thrive Seizures High palate Hammertoe Optic atrophy Kyphoscoliosis Ventricular septal defect Talipes equinovarus Congestive heart failure Atrial septal defect Vomiting Intellectual disability, moderate Strabismus Syndactyly Polyneuropathy Lymphopenia Limb undergrowth Midface retrusion Gingival overgrowth Polydactyly Choanal atresia Hypertension Increased body weight Neutropenia Hyperlordosis Convex nasal ridge Wide nasal bridge Hypoplasia of the radius Blue sclerae Myopia Narrow chest Brachycephaly Respiratory insufficiency Dilatation Delayed eruption of teeth Recurrent infections Constipation Severe short stature Pneumonia Distal amyotrophy Distal sensory impairment Hypoplastic labia majora Sensory neuropathy Optic nerve coloboma Nausea Hypoplastic nipples Oligodactyly Abnormality of the foot Limb muscle weakness Abnormality of the gastrointestinal tract Esophagitis Peripheral demyelination Split hand Axonal degeneration Chronic diarrhea Aspiration pneumonia Foot dorsiflexor weakness Dislocated radial head Distal muscle weakness Ectrodactyly Hiatus hernia Poor appetite Steppage gait Decreased motor nerve conduction velocity Decreased nerve conduction velocity Hyporeflexia Thick upper lip vermilion Reduced renal corticomedullary differentiation Supernumerary ribs Gastroparesis Absent hand Curly eyelashes Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Hypoplastic male external genitalia Eczema Otitis media with effusion Malrotation of colon Esophageal stenosis Decreased number of peripheral myelinated nerve fibers Hypertropia Abnormality of digit Left-to-right shunt Phocomelia Leukopenia Diabetes mellitus Opisthotonus Recurrent hypoglycemia Projectile vomiting Areflexia Weak cry Tremor Volvulus Skeletal muscle atrophy Muscle weakness Recurrent upper respiratory tract infections Panhypopituitarism Peters anomaly Noncompaction cardiomyopathy Short sternum Agammaglobulinemia Neurodevelopmental delay Perimembranous ventricular septal defect Hand oligodactyly Duplication of internal organs Broad forehead Onion bulb formation Hypercholesterolemia Kyphosis Gait disturbance Abnormality of skin pigmentation Retinal degeneration Increased T3/T4 ratio No permanent dentition Thyroid hormone receptor defect Long thorax Drowsiness Congenital hypothyroidism Wormian bones Platyspondyly Congenital hip dislocation Hoarse voice Clumsiness Omphalocele Broad-based gait Macroglossia Flat face Hypothyroidism Elevated serum creatine phosphokinase Motor delay Pes planus Genu valgum Polyneuritis Respiratory distress Lateral clavicle hook Hypoplastic ilia Thoracic dysplasia Prominent occiput Thoracic hypoplasia Postaxial polydactyly Oral cleft Dolichocephaly Cleft lip Respiratory failure Brachydactyly Recurrent fractures Hyperconvex vertebral body endplates Spondylometaphyseal dysplasia Ovoid vertebral bodies Abnormality of the wrist Beaking of vertebral bodies Short femoral neck Mild short stature Metaphyseal irregularity Short long bone Tetralogy of Fallot Waddling gait Elevated levels of phytanic acid Calcific stippling Abnormal pupil morphology Posteriorly rotated ears Atrial fibrillation Mitral valve prolapse Abnormality of the cardiovascular system Chest pain Tachycardia Long face 2-3 toe syndactyly Short philtrum Dyspnea Upslanted palpebral fissure Pectus excavatum Dental crowding Cold-induced muscle cramps Trophic changes related to pain Chronic sensorineural polyneuropathy Tonic pupil Myelin outfoldings Hypertrophic nerve changes Ulnar claw Limb tremor Neuritis Spinal deformities Motor polyneuropathy Mitral regurgitation Aortic regurgitation Short 5th metacarpal Visual loss Distal lower limb amyotrophy Anosmia Sensorimotor neuropathy Progressive visual loss Ichthyosis Congenital cataract Nyctalopia Retinopathy Rod-cone dystrophy Arrhythmia Flexion contracture Disproportionate tall stature Reversed usual vertebral column curves Quadricuspid aortic valve Bacterial endocarditis Mastoiditis Asthenia Tricuspid valve prolapse Endocarditis Supraventricular tachycardia Thromboembolism Striae distensae Abnormal heart valve morphology Ectopic kidney Single transverse palmar crease Short middle phalanx of finger Metaphyseal dysplasia Fair hair Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Anal stenosis Hodgkin lymphoma Macrocytic anemia High hypermetropia Generalized joint laxity Abnormality of the hip bone Tibial bowing Basal cell carcinoma Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Tracheal stenosis B-cell lymphoma Abnormality of pelvic girdle bone morphology Mucopolysacchariduria Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Abnormal diaphysis morphology Aplastic anemia Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Portal hypertension Disproportionate short-limb short stature Abnormality of the distal phalanx of finger Low-set, posteriorly rotated ears Joint hypermobility Joint hyperflexibility Malabsorption Hypotrichosis Arthrogryposis multiplex congenita Leukemia Pectus carinatum Abnormal cardiac septum morphology Sparse hair Carcinoma Hypopigmentation of the skin EEG abnormality Macrotia Alopecia Immunodeficiency Splenomegaly Hepatomegaly Epicanthus Visual impairment Muscular hypotonia Short palm Postural instability Sacral dimple Bronchiectasis Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Sparse and thin eyebrow Abnormality of retinal pigmentation Abnormality of epiphysis morphology Aganglionic megacolon Lymphoma Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Fine hair Lumbar hyperlordosis Abnormality of the ribs Decreased antibody level in blood Gastrointestinal hemorrhage Abnormal T cell morphology Narrow vertebral interpedicular distance Cutis marmorata Downturned corners of mouth Webbed neck Vesicoureteral reflux Sepsis Triangular face Renal cyst Microcornea Sleep disturbance Tapered finger Highly arched eyebrow Hirsutism Microdontia Thick eyebrow Thin vermilion border Cleft upper lip Vertigo Astigmatism Toe syndactyly Synophrys Small for gestational age Prominent nasal bridge Otitis media Congenital diaphragmatic hernia Postnatal growth retardation Widely spaced teeth Tricuspid regurgitation Clubbing Proximal placement of thumb Self-injurious behavior Pyloric stenosis Short metatarsal Deep philtrum Incoordination Abnormality of the urinary system Torticollis High myopia Spontaneous abortion Elbow flexion contracture Low anterior hairline Aspiration Long eyelashes Recurrent urinary tract infections Hypertrichosis Low posterior hairline Renal hypoplasia Craniosynostosis Abnormality of the pinna Long fibula Pulmonary lymphoma Hydrocephalus Intrauterine growth retardation Fever Delayed speech and language development Feeding difficulties Ptosis Cryptorchidism Cleft palate Nystagmus Susceptibility to chickenpox Abnormality of the dentition 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 Metaphyseal dysostosis Non-Hodgkin lymphoma Intellectual disability, severe Hypertonia Camptodactyly Narrow mouth Telecanthus Aggressive behavior Proteinuria Conductive hearing impairment Hypoglycemia Retrognathia Gastroesophageal reflux Mandibular prognathia Proptosis Glaucoma Behavioral abnormality Hyperactivity Hyperhidrosis Clinodactyly of the 5th finger Inguinal hernia Abnormal heart morphology Clinodactyly Hypospadias Hernia Headache Horizontal ribs



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Tapered finger, related diseases and genetic alterations Macrocephaly and Apraxia, related diseases and genetic alterations Myopathy and Brain atrophy, related diseases and genetic alterations Low-set ears and Short metacarpal, related diseases and genetic alterations

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