Cardiomyopathy, and Ambiguous genitalia

Diseases related with Cardiomyopathy and Ambiguous genitalia

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


Top matches:

Low match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Low match PENOSCROTAL TRANSPOSITION


Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

Low 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

Mendelian

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

Learn more

Other less relevant matches:

Low match 46,XY SEX REVERSAL 9; SRXY9


46,XY SEX REVERSAL 9; SRXY9 Is also known as 46,xy sex reversal, zfpm2-related

Related symptoms:

  • Hydrocephalus
  • Clinodactyly
  • Abnormal heart morphology
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about 46,XY SEX REVERSAL 9; SRXY9

Low match MEACHAM SYNDROME


Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.

MEACHAM SYNDROME Is also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome|meacham-winn-culler syndrome

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Ventricular septal defect
  • Atrial septal defect
  • Hernia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEACHAM SYNDROME

Low match SERKAL SYNDROME


SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Related symptoms:

  • Growth delay
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SERKAL SYNDROME

Low match IVEMARK SYNDROME


Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8


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, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

Low match PENILE AGENESIS


Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Ambiguous genitalia

Symptoms // Phenotype % cases
Ventricular septal defect Common - Between 50% and 80% cases
Hypospadias Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect Micropenis Intellectual disability Growth delay Male pseudohermaphroditism Short stature Congenital diaphragmatic hernia Perineal hypospadias Anal atresia Abnormality of the genital system Sex reversal Micrognathia Pulmonary hypoplasia Abnormality of cardiovascular system morphology Neoplasm

Rare Symptoms - Less than 30% cases


Pulmonic stenosis Tetralogy of Fallot Renal agenesis Abnormality of metabolism/homeostasis Agenesis of corpus callosum Gynecomastia Hypoplasia of penis Bifid scrotum Situs inversus totalis Abnormal lung lobation Aplasia of the uterus Failure to thrive Depressed nasal bridge Syndactyly Anomalous pulmonary venous return Hydrocephalus Incomplete male pseudohermaphroditism Low-set ears Oligohydramnios Intrauterine growth retardation Cleft lip Oral cleft Abnormal cardiac septum morphology Bilateral lung agenesis Abnormal vagina morphology Abnormality of the penis Hypertrophic cardiomyopathy Glaucoma Ovotestis Obesity Microphthalmia Abnormality of the fallopian tube Nephroblastoma Cataract Microcephaly Corneal opacity Arteria lusoria Functional motor deficit Cleft palate Pulmonary sequestration Abnormal vitreous humor morphology Fused labia minora Crossed fused renal ectopia Mandibular aplasia Pulmonary artery stenosis Overriding aorta Abnormality of the anus Abnormality of the adrenal glands Tricuspid valve prolapse Abnormal nasolacrimal system morphology Septate vagina Hydrometrocolpos Hydrocele testis Horseshoe kidney Gonadal dysgenesis Microphallus Autistic behavior Autism Patent ductus arteriosus Clinodactyly Anal fistula Coarctation of aorta Aortic valve stenosis Asymmetric, linear skin defects Hypoplastic left heart Conotruncal defect Transposition of the great arteries Cleft earlobe Abnormality of the rectum Aplasia/Hypoplasia of the lungs Abnormality of the spleen Vitritis Histiocytoid cardiomyopathy Vaginal atresia Orbital cyst Chorioretinal dysplasia Diffuse mesangial sclerosis Testicular dysgenesis Polysplenia Hypoplasia of the bladder Maternal diabetes Lateral clavicle hook Pancreatic fibrosis Acetabular spurs Short nose Posteriorly rotated ears Hydronephrosis Abnormality of the hair Scrotal hypoplasia Abnormality of the voice Tracheoesophageal fistula Bilateral talipes equinovarus Hydroureter Decreased fertility Abnormality of the endocrine system Femoral bowing Cystic renal dysplasia Ambiguous genitalia, male Urogenital sinus anomaly Bilateral renal agenesis Atrophy of the spinal cord Bilateral renal hypoplasia Anorectal anomaly Abnormality of the bladder Unilateral renal hypoplasia Fetal pyelectasis Rectal fistula Cloacal abnormality Absent penis Urethral atresia, male Thoracic dysplasia Preaxial polydactyly Malrotation of small bowel Total anomalous pulmonary venous return Adrenal gland agenesis Hypertelorism Flexion contracture Congestive heart failure Dextrocardia Atrioventricular canal defect Abnormality of earlobe Choanal stenosis Asplenia Pulmonary artery atresia Complete atrioventricular canal defect Abdominal situs inversus Heterotaxy Biliary atresia Short long bone Common atrium Single ventricle Left atrial isomerism Bilateral trilobed lungs Right atrial isomerism Hepatomegaly Brachydactyly Macrocephaly Respiratory insufficiency Polydactyly Polyhydramnios Narrow chest Postaxial polydactyly Short ribs Epispadias Dysphasia Chordee Nephrogenic diabetes insipidus Diabetes insipidus Prominent occiput Abnormality of the ureter Shawl scrotum Sparse axillary hair Sparse pubic hair Labial hypoplasia Elevated circulating follicle stimulating hormone level Patellar aplasia Menstrual irregularities Elevated circulating luteinizing hormone level Pseudohypoparathyroidism Dimple chin Abnormality of the urethra Bilateral single transverse palmar creases Penoscrotal hypospadias Abnormal external genitalia Female external genitalia in individual with 46,XY karyotype Absent facial hair Blind vagina Penoscrotal transposition Scrotal hypospadias Seizures Global developmental delay Hearing impairment Sensorineural hearing impairment Abnormal facial shape Feeding difficulties Growth abnormality Renal dysplasia Respiratory distress Renal neoplasm Scoliosis Nystagmus Ptosis Visual impairment Renal insufficiency Leukemia Nephropathy Everted lower lip vermilion Microcornea Abnormality of the genitourinary system Aniridia Acute lymphoblastic leukemia Hearing abnormality Hemihypertrophy Primary amenorrhea Abnormality of the uterus Gonadoblastoma Peters anomaly Aplasia/Hypoplasia of the iris Streak ovary Displacement of the external urethral meatus Dysfunction of lateral corticospinal tracts Epicanthus Inguinal hernia Clinodactyly of the 5th finger Cerebral cortical atrophy Pectus carinatum Wide intermamillary distance Wide nasal bridge Blindness Periventricular leukomalacia Aplasia/Hypoplasia of the skin Mutism Dermal atrophy Patent foramen ovale Clitoral hypertrophy Anophthalmia Ventricular fibrillation Tricuspid regurgitation Preauricular pit Albinism Aphasia Hypoplasia of the uterus Congenital glaucoma Abnormality of the ear Absent septum pellucidum Sacral dimple Anteriorly placed anus Aplasia cutis congenita Anencephaly Posterior embryotoxon Abnormal eyelash morphology Sclerocornea Ocular albinism Abnormal eyelid morphology Retinal dysplasia Echolalia Supraventricular tachycardia Abnormality of the testis Colpocephaly Hypopigmented skin patches Intellectual disability, progressive Midface retrusion Abnormality of skin pigmentation Visual loss Arrhythmia Severe short stature Hypogonadism Respiratory failure Dyspnea Retrognathia Erythema Blepharophimosis Coloboma Skin rash Dilated cardiomyopathy Nail dystrophy Tachycardia Abnormality of dental enamel Wide nose Iris coloboma Retinal dystrophy Hypopigmentation of the skin Specific learning disability Pigmentary retinopathy Mitral valve prolapse Status epilepticus Mitral regurgitation Amblyopia Abnormality of retinal pigmentation Cafe-au-lait spot Hyperpigmentation of the skin Abnormality of the nail Urethral fistula



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Dolichocephaly, related diseases and genetic alterations Lymphoma and Gynecomastia, related diseases and genetic alterations Low-set ears and Osteoarthritis, related diseases and genetic alterations Obesity and Vertigo, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more