Congestive heart failure, and Hypoplasia of penis

Diseases related with Congestive heart failure and Hypoplasia of penis

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Hypoplasia of penis that can help you solving undiagnosed cases.


Top matches:

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Medium match DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Medium match 3MC SYNDROME 3; 3MC3


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

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Other less relevant matches:

Medium match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Medium match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Medium match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Medium match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

Medium match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Medium match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Medium match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Top 5 symptoms//phenotypes associated to Congestive heart failure and Hypoplasia of penis

Symptoms // Phenotype % cases
Cryptorchidism Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Micropenis Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Hypoplasia of penis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Short stature Low-set ears Motor delay Cardiomyopathy Strabismus Postnatal growth retardation Ptosis Intellectual disability, mild Hypogonadism Generalized hypotonia Abnormality of the genital system Spontaneous abortion Intrauterine growth retardation Small hand Hypertelorism Failure to thrive Hypertension Micrognathia Epicanthus Delayed speech and language development Talipes equinovarus Ventriculomegaly Cleft palate Hypospadias Seizures Neoplasm Cognitive impairment Renal agenesis Abnormality of the skeletal system Abnormal heart morphology Arrhythmia Osteoporosis Congenital diaphragmatic hernia Posteriorly rotated ears Unilateral renal agenesis Mitral regurgitation Pain Hypergonadotropic hypogonadism Talipes Behavioral abnormality Dilatation Missing ribs Bilateral cryptorchidism Delayed puberty Abnormality of the pinna Convex nasal ridge Blepharophimosis Microcephaly Cataract Flexion contracture Bundle branch block Wide nasal bridge Ventricular septal defect Polymicrogyria Narrow palpebral fissure Atrial septal defect Hernia

Rare Symptoms - Less than 30% cases


Recurrent respiratory infections Short neck Respiratory insufficiency Kyphosis Abnormality of the dentition Abnormality of cardiovascular system morphology Pectus excavatum Low-set, posteriorly rotated ears Hyporeflexia Hyperkeratosis Alopecia Epiphyseal dysplasia Short palm Bifid scrotum Growth hormone deficiency Pectus carinatum Hypogonadotrophic hypogonadism Anemia Radioulnar synostosis Syndactyly Preaxial polydactyly Respiratory tract infection Scrotal hypoplasia Omphalocele Hypoglycemia Neonatal hypotonia Aortic valve stenosis Chest pain Polydactyly Leukemia Hypopigmentation of the skin Decreased testicular size Type II diabetes mellitus Insulin resistance Peripheral neuropathy Chorioretinitis Abnormality of the kidney Polyphagia Short toe Psychosis Tapered finger Attention deficit hyperactivity disorder Autism Hyperactivity Myocardial infarction Depressed nasal bridge Diabetes mellitus Intellectual disability, severe Optic atrophy Muscular hypotonia Feeding difficulties Myopia High palate Obesity Short nose Malar flattening Prematurely aged appearance Microphthalmia Midface retrusion Myeloid leukemia Hemivertebrae Laryngomalacia Full cheeks Downslanted palpebral fissures Protruding ear Precocious puberty Dilated cardiomyopathy Arachnodactyly Triangular face Sepsis Tachycardia Lipodystrophy Intellectual disability, moderate Secondary amenorrhea Right bundle branch block Thoracic scoliosis Testicular dysgenesis Pneumonia Increased bone mineral density Inguinal hernia Abnormality of the testis Scleroderma Bilateral ptosis Amenorrhea Conductive hearing impairment Osteopenia Pointed chin Retrognathia Hypertrophic cardiomyopathy Patent ductus arteriosus Clinodactyly Depressivity Edema Abnormal facial shape Hearing impairment Muscular hypotonia of the trunk Wide nasal base Macrotia Tachypnea Wheezing Absent radius Occipital encephalocele Hypoplasia of the radius Dextrocardia Transposition of the great arteries Abnormality of the sternum Non-midline cleft lip Ectopic kidney Hypoplastic left heart Triphalangeal thumb Tracheoesophageal fistula Aplasia/Hypoplasia of the radius Preaxial hand polydactyly Vertebral segmentation defect Cleft lip Anencephaly Tethered cord Absence of the sacrum Anorectal anomaly Abnormality of the urethra Abnormality of the intervertebral disk Lower limb undergrowth Vertebral clefting Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Supernumerary ribs Cavernous hemangioma Esophageal atresia Ureteropelvic junction obstruction Abnormality of female internal genitalia Abnormality of the pancreas Multicystic kidney dysplasia Atelectasis Rectovaginal fistula Duodenal atresia Tracheal stenosis Single umbilical artery Aplasia/Hypoplasia of the lungs Abnormality of the outer ear Small nail Spina bifida Metatarsus adductus Broad fingertip Osteopathia striata Abnormality of the distal phalanx of finger Talipes valgus Furrowed tongue Misalignment of teeth Abnormal toenail morphology Abnormality of the antihelix Tracheomalacia Ulnar deviation of finger Spastic diplegia Abnormality of the hand Prominent nipples Abnormal dermatoglyphics Intellectual disability, progressive Knee flexion contracture Cardiac arrest Clonus Short phalanx of finger Postnatal microcephaly Low posterior hairline Lumbar hyperlordosis Hypotelorism Short metacarpal Prominent antitragus Slender ulna Situs inversus totalis Tetralogy of Fallot Preauricular skin tag Abnormal vertebral morphology Short thumb Large fontanelles Renal dysplasia Recurrent urinary tract infections Choanal atresia Abnormality of the gallbladder Abnormality of the ribs Ambiguous genitalia Premature birth Dysphagia Intestinal malrotation Vesicoureteral reflux Pulmonary hypoplasia Anal atresia Facial asymmetry Finger syndactyly Abnormal cardiac septum morphology Hypoplasia of the corpus callosum Hydronephrosis Polyhydramnios Hydrocephalus Hemifacial hypoplasia Weight loss Potter facies Acrocyanosis Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Oligomenorrhea Disseminated intravascular coagulation Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Pulmonary embolism Striae distensae Impaired pain sensation Narrow nasal bridge External genital hypoplasia Erysipelas Triangular mouth Decreased muscle mass Aciduria Penile hypospadias 3-Methylglutaric aciduria Noncompaction cardiomyopathy Glutaric aciduria Nonprogressive cerebellar ataxia Microvesicular hepatic steatosis 3-Methylglutaconic aciduria Perineal hypospadias Microcytic anemia Hypokinesia Prolonged QT interval Sudden cardiac death Temperature instability Hepatic steatosis Muscle weakness Ataxia Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Truncal obesity Adrenal insufficiency Perineal fistula Thin upper lip vermilion Downturned corners of mouth Infertility Genu valgum Carious teeth Hypermetropia Pruritus Dolichocephaly Stroke Apnea Abnormality of the nervous system Photophobia Narrow mouth Sleep disturbance Hypoplasia of the maxilla Respiratory failure Upslanted palpebral fissure Prominent forehead Vomiting Myopathy Fever Nystagmus Patent urachus Asymmetric crying face Abnormal tracheobronchial morphology Short foot Gastrointestinal hemorrhage Skeletal muscle hypertrophy Sleep apnea Albinism Glucose intolerance Inflammation of the large intestine Large hands Emotional lability Radial deviation of finger Hyperinsulinemia Failure to thrive in infancy Nasal speech Poor suck Infantile muscular hypotonia Bicuspid aortic valve Esotropia Increased body weight Bradycardia Clumsiness Primary amenorrhea Cutaneous photosensitivity Decreased fetal movement Oligohydramnios Narrow forehead Abnormality of the cardiovascular system Specific learning disability Hip dysplasia Febrile seizures Broad nasal tip Brachycephaly Microcornea Delayed menarche Ventricular tachycardia Polycystic ovaries Anteverted nares Macrocephaly Premature ovarian insufficiency Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Parietal bossing Immunodeficiency Multiple lentigines Limited elbow movement Subvalvular aortic stenosis Abnormal aortic valve morphology Abnormal mitral valve morphology Hyposmia Angina pectoris Tricuspid regurgitation Heart block Multiple cafe-au-lait spots Severe hearing impairment Short chin Recurrent infections Pterygium Wide nose Long nose Combined immunodeficiency Anophthalmia Language impairment Hand polydactyly Pyloric stenosis Aortic regurgitation Microretrognathia Underdeveloped nasal alae Renal cyst Flat face Telangiectasia Smooth philtrum Broad forehead Coloboma Wide mouth Autistic behavior Deeply set eye EEG abnormality Gastroesophageal reflux Abnormality of the skin Cardiomegaly Atrial fibrillation Cubitus valgus Mutism Severe combined immunodeficiency Shawl scrotum Penoscrotal hypospadias Epicanthus inversus Skin dimples Bilateral conductive hearing impairment Bilateral cleft lip and palate Diastasis recti Short 5th finger Bilateral cleft lip Broad foot Irregular vertebral endplates Facial cleft Urethral valve Supernumerary nipple Aplasia of the phalanges of the 3rd toe Elbow dislocation Abnormality of the genitourinary system Wormian bones Umbilical hernia Highly arched eyebrow Oral cleft Cleft upper lip Telecanthus Craniosynostosis Caudal appendage Prominent coccyx Spina bifida occulta Kyphoscoliosis Scapular winging Cafe-au-lait spot Depressed nasal ridge Overgrowth Webbed neck Syncope Short clavicles Pulmonic stenosis Down-sloping shoulders Poikiloderma Mandibular prognathia Thyroid hemiagenesis Sparse pubic hair Elevated circulating follicle stimulating hormone level Abnormality of the ovary Elevated circulating luteinizing hormone level Poor wound healing Sclerodactyly Primary testicular failure Fatigue Puberty and gonadal disorders Myofiber disarray Sensorineural hearing impairment Syringomyelia Arnold-Chiari type I malformation Polyneuropathy Pili torti Poliosis Abnormal hair whorl Soft tissue sarcoma Cutaneous melanoma Narrow nasal ridge Arteriosclerosis Enlarged joints Thyroid carcinoma White forelock Slender build Chondrocalcinosis Neoplasm of the small intestine Lack of skin elasticity Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Meningioma Progeroid facial appearance Posterior subcapsular cataract Pulmonary artery stenosis Neoplasm of the lung Alopecia of scalp Subcutaneous calcification Gastrointestinal carcinoma Subcapsular cataract Pes planus Everted lower lip vermilion Peripheral axonal neuropathy Congenital cataract Severe global developmental delay Short philtrum Abnormal pyramidal sign Hyperlordosis Feeding difficulties in infancy Camptodactyly Joint laxity Cerebral cortical atrophy Premature arteriosclerosis Severe short stature Bulbous nose Encephalopathy Cerebral atrophy Long philtrum Gliosis Focal-onset seizure Spasticity Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Neoplasm of the oral cavity Premature loss of teeth Sloping forehead Severe intrauterine growth retardation Carcinoma Decreased body weight Sparse scalp hair Disproportionate tall stature Coma Entropion Nephropathy Retinal degeneration Cavum septum pellucidum Retinopathy Joint stiffness Proptosis Mask-like facies Rod-cone dystrophy Narrow naris Skeletal muscle atrophy Visual impairment Absent nasal bridge Widely-spaced maxillary central incisors Microtia Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Multiple renal cysts Abnormality of retinal pigmentation Skin ulcer Ovarian neoplasm Polydipsia Telangiectasia of the skin Aplasia/Hypoplasia of the skin Lipoatrophy Decreased fertility Cutis laxa Premature graying of hair High pitched voice Squamous cell carcinoma Polyuria Rocker bottom foot Abnormality of the thorax Myelodysplasia Abnormality of the hair Abnormality of the voice Dermal atrophy Sarcoma Focal impaired awareness seizure Breast carcinoma Melanoma Atherosclerosis Macular degeneration Type I diabetes mellitus Hoarse voice Narrow face Normochromic microcytic anemia



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