Cardiomyopathy, and Choanal atresia

Diseases related with Cardiomyopathy and Choanal atresia

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


Top matches:

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

Low match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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Other less relevant matches:

Low 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 LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME


Related symptoms:

  • High palate
  • Pectus excavatum
  • Choanal atresia
  • Lymphedema
  • Pericardial effusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6


MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

Low match DIAMOND-BLACKFAN ANEMIA 10; DBA10


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Low match CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME


Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

Low match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Low match MCKUSICK-KAUFMAN SYNDROME; MKKS


McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Choanal atresia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Global developmental delay Abnormality of the skeletal system Microcephaly Low-set ears Respiratory distress Atrial septal defect Hypertelorism Growth delay Abnormal facial shape Patent ductus arteriosus Conductive hearing impairment Hypospadias Sensorineural hearing impairment Intrauterine growth retardation High palate Anemia Micrognathia Prominent nasal bridge Abnormality of cardiovascular system morphology Thin vermilion border Anal atresia Abnormal heart morphology Inguinal hernia Short palpebral fissure Malar flattening 2-3 toe syndactyly Nystagmus Severe short stature Astigmatism Autism Scoliosis Mandibular prognathia Postnatal growth retardation Behavioral abnormality Autistic behavior Abnormal cardiac septum morphology Visual impairment Small for gestational age Failure to thrive Narrow mouth Syndactyly Thrombocytopenia Ptosis Midface retrusion Ectopic kidney Strabismus Respiratory tract infection Hernia Seizures Macrocephaly Cataract Short neck

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Retrognathia Abnormality of the pinna Reticulocytopenia Aganglionic megacolon Wide nasal bridge Neoplasm Fever Esophageal stenosis Generalized hypotonia Unilateral cleft lip Lymphedema Broad neck Pericardial effusion Coloboma Cleft upper lip External ear malformation Hydrocephalus Hip dislocation Recurrent urinary tract infections Tetralogy of Fallot Vertigo Abnormal vertebral morphology Abnormality of vision Abnormality of the urinary system Tracheoesophageal fistula Hypoplastic nipples Toe syndactyly Abnormality of the eye Pulmonary hypoplasia Hypertrophic cardiomyopathy Renal hypoplasia Pes planus Optic nerve coloboma Hydroureter Proptosis Clinodactyly of the 5th finger Congenital diaphragmatic hernia Headache Narrow palpebral fissure Pectus excavatum Camptodactyly Hypoplasia of the maxilla Leukopenia Hypertension Microtia Cleft lip Amenorrhea Short philtrum Thin upper lip vermilion Bifid uvula Blepharophimosis Ataxia Hyperactivity Neutropenia Clinodactyly Obesity Thick eyebrow Hypogonadism Recurrent infections Respiratory insufficiency Microphthalmia Edema of the lower limbs Aspiration Long eyelashes High myopia Hypertrichosis Nonimmune hydrops fetalis Vaginal atresia Rectovaginal fistula Low posterior hairline Blue sclerae Low anterior hairline Mixed hearing impairment Increased body weight Short metatarsal Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Polycystic kidney dysplasia Proximal placement of thumb Self-injurious behavior Pyloric stenosis Esophageal atresia Elbow flexion contracture Deep philtrum Incoordination Hypoplasia of the radius Relative macrocephaly Microdontia Widely spaced teeth Torticollis Spontaneous abortion Chordee Vesicoureteral reflux Penoscrotal hypospadias Pneumonia Aggressive behavior Proteinuria Hypoglycemia Vesicovaginal fistula Gastroesophageal reflux Glaucoma Brachycephaly Hyperhidrosis Prominent forehead Delayed skeletal maturation Prominent scrotal raphe Long philtrum Hypertonia Abnormality of the dentition Vomiting Pelvic mass Anteverted nares Talipes equinovarus Optic atrophy Myopia Depressed nasal bridge Telecanthus Mesoaxial hand polydactyly Otitis media Tapered finger Webbed neck Limited elbow extension Sepsis Hydrometrocolpos Triangular face Renal cyst Microcornea Delayed eruption of teeth Sleep disturbance Single transverse palmar crease Pallor Highly arched eyebrow Small hand High, narrow palate Downturned corners of mouth Hirsutism Transverse vaginal septum Micromelia Pulmonic stenosis Synophrys Craniosynostosis Opisthotonus Hydrops fetalis Abnormality of digit Dyskinesia Jaundice Posteriorly rotated ears Generalized tonic-clonic seizures with focal onset Focal impaired awareness seizure Cerebral visual impairment Status epilepticus Hypsarrhythmia Chorea Polymicrogyria Macrocytic anemia Developmental regression Intellectual disability, moderate EEG abnormality Encephalopathy Cerebral atrophy Dystonia Hypoplasia of the corpus callosum Spasticity Posterior choanal atresia Atresia of the external auditory canal Bilateral choanal atresia Dysplastic tricuspid valve Abnormality of metabolism/homeostasis Abnormal palate morphology Preauricular skin tag Renal dysplasia Underdeveloped nasal alae Prominent nose Protruding ear Feeding difficulties in infancy Hypomimic face Short nose Increased mean corpuscular volume Cupped ear Iris coloboma Secundum atrial septal defect High forehead Agenesis of corpus callosum Downslanted palpebral fissures Mandibulofacial dysostosis Median cleft palate Cleft soft palate Lower eyelid coloboma Hypoplastic radial head Weak cry Primary amenorrhea Peters anomaly Abdominal distention Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Postaxial hand polydactyly Abnormality of the gastrointestinal tract Hypoplastic labia majora Postaxial polydactyly Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Ectrodactyly Eyelid coloboma Oligodactyly Congenital hip dislocation Dislocated radial head Short sternum Perimembranous ventricular septal defect Abnormality of the umbilicus Hypoplastic male external genitalia Bilateral choanal atresia/stenosis Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Curly eyelashes Hand oligodactyly Edema Rod-cone dystrophy Polydactyly Micropenis Absent hand Gastroparesis Supernumerary ribs Hydronephrosis Phocomelia Delayed speech and language development Acute myeloid leukemia Feeding difficulties Pericarditis Restrictive cardiomyopathy Broad ribs Tracheal stenosis Hypoplastic iliac wing Chronic constipation Oligomenorrhea Irregular vertebral endplates Submucous cleft hard palate Wheezing Arthropathy Constrictive median neuropathy Keratoconus Thickened calvaria Abnormal joint morphology High hypermetropia Vertebral fusion Short finger External genital hypoplasia Blurred vision Overlapping toe Craniofacial hyperostosis Peptic ulcer Radial deviation of finger Generalized muscle hypertrophy Frontal bossing Fatigue Hyperreflexia Hepatomegaly Epicanthus Hypoplasia of eyelid Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Abnormality of the pubic bone Femoral hernia Constrictive pericarditis Pear-shaped nose Large iliac wings Pseudopapilledema Stiff skin Abnormality of the penis Abnormal lip morphology Abnormality of the menstrual cycle Epispadias Skeletal muscle hypertrophy Oral-pharyngeal dysphagia Congestive heart failure Flexion contracture Sparse hair Joint stiffness Deeply set eye Respiratory failure Recurrent respiratory infections Constipation Cerebellar atrophy Brachydactyly Motor delay Noncompaction cardiomyopathy Cough Agammaglobulinemia Upper limb undergrowth Neurodevelopmental delay Recurrent upper respiratory tract infections Lymphopenia Rhizomelia Gingival overgrowth Eczema Dry skin Scarring Platyspondyly Stridor Abnormality of the metaphysis Cone-shaped epiphysis Abnormality of the voice Precocious puberty Short long bone EMG abnormality Aortic valve stenosis Short toe Abnormality of epiphysis morphology Thickened skin Abnormal lung morphology Hypermetropia Fine hair Abnormality of the ribs Coarctation of aorta Abnormality of the cardiovascular system Specific learning disability Limitation of joint mobility Progressive cerebellar ataxia Short palm Oral cleft Ventriculomegaly Renal insufficiency Abnormality of the preputium Abnormality of the thumb Abnormal aortic morphology Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the testis Primary hypothyroidism Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality Abnormality of nervous system morphology Duodenal stenosis Aplasia/Hypoplasia of the radius Compensated hypothyroidism Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Absent testis Duplicated collecting system Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Irregular hyperpigmentation Absent radius Upslanted palpebral fissure Dolichocephaly Oligohydramnios Sloping forehead Renal agenesis Lymphoma Hypopigmentation of the skin Bruising susceptibility Abnormality of skin pigmentation Facial asymmetry Abnormality of the foot Finger syndactyly Abnormality of the genital system Leukemia Abnormality of the liver Irritability Abnormality of the kidney Carcinoma Umbilical hernia Hypothyroidism Weight loss Diabetes mellitus Pancytopenia Telangiectasia Abnormality of blood and blood-forming tissues Reduced bone mineral density Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Triphalangeal thumb Myelodysplasia Hyperinsulinemia Hypopigmented skin patches Cafe-au-lait spot Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Insulin resistance Short thumb Hydrocolpos



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