Ventricular septal defect, and Micropenis

Diseases related with Ventricular septal defect and Micropenis

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Micropenis that can help you solving undiagnosed cases.


Top matches:

High match HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD


Related symptoms:

  • Flexion contracture
  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: MESH OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD

High 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

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Other less relevant matches:

High match BRACHYDACTYLY, TYPE B1; BDB1


BRACHYDACTYLY, TYPE B1; BDB1 Is also known as bdb|brachydactyly, type b

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE B1; BDB1

High match X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA


X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

High 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

High match MEIER-GORLIN SYNDROME 7; MGORS7


Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 7; MGORS7

High match HOLOPROSENCEPHALY 9; HPE9


Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Medium match SIFRIM-HITZ-WEISS SYNDROME; SIHIWES


Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Micropenis

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ventricular septal defect and Micropenis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pulmonary hypoplasia Short stature Cleft palate Intellectual disability Ambiguous genitalia Hypospadias Wide anterior fontanel High palate Motor delay Generalized hypotonia Low-set ears Ventriculomegaly Patent ductus arteriosus

Rare Symptoms - Less than 30% cases


Polydactyly Omphalocele Coarctation of aorta Neurodevelopmental delay Inguinal hernia Abnormal heart morphology Failure to thrive Delayed speech and language development Micrognathia Cataract Postaxial polydactyly Flexion contracture Myopia Sloping forehead Gliosis Hypertelorism Agenesis of corpus callosum Strabismus Wide nasal bridge Macrotia Hearing impairment Retrognathia Hemivertebrae Microtia Vesicoureteral reflux Camptodactyly Hypotelorism Astigmatism 2-3 toe syndactyly Macrocephaly Aganglionic megacolon Depressed nasal bridge Cupped ear Anal atresia Short nose Scrotal hypoplasia Hypoplasia of penis Tapered finger Bulbous nose Posteriorly rotated ears Prominent nasal bridge Growth delay Scoliosis Short femoral neck Prominent antihelix Narrow naris Narrow mouth Cavum septum pellucidum Entropion Disproportionate tall stature Bundle branch block Right bundle branch block Wide nasal base Craniosynostosis Proptosis Joint laxity Trigonocephaly Focal impaired awareness seizure Arnold-Chiari malformation Wormian bones Choanal atresia Decreased body weight Progressive microcephaly Preaxial polydactyly Short palpebral fissure Clitoral hypertrophy Mask-like facies Convex nasal ridge Cutis laxa Hypoplasia of the corpus callosum Infantile spasms Exocrine pancreatic insufficiency Profound global developmental delay Hydranencephaly Long upper lip Duane anomaly Abnormality of temperature regulation Temperature instability Type I lissencephaly Flat acetabular roof Downslanted palpebral fissures Talipes equinovarus Short clavicles Cardiomyopathy Narrow palpebral fissure Congestive heart failure Hernia Pneumonia Anteriorly placed anus Hypertrophic cardiomyopathy Protruding ear Blepharophimosis Polymicrogyria Triangular face Sepsis Focal-onset seizure Bowing of the legs Pointed chin Clubbing Anal stenosis Mild short stature Underdeveloped tragus Dental malocclusion Growth hormone deficiency Agenesis of incisor Postaxial hand polydactyly Anterior pituitary agenesis Preauricular skin tag Holoprosencephaly Optic nerve hypoplasia Patent foramen ovale Heart murmur Anophthalmia Short hard palate Single naris Partial agenesis of the corpus callosum Asymmetric ventricles Median cleft lip Bilateral cleft lip Hypoplasia of the premaxilla Thoracic hemivertebrae Skin tags Bilateral cleft lip and palate Alobar holoprosencephaly Abnormal cortical gyration Large forehead Panhypopituitarism Anterior pituitary hypoplasia Median cleft lip and palate Wide cranial sutures Single median maxillary incisor Hypoplasia of the maxilla Oral cleft Semilobar holoprosencephaly Upslanted palpebral fissure Arnold-Chiari type I malformation Coronal craniosynostosis Sagittal craniosynostosis Complete atrioventricular canal defect Thin eyebrow Tetralogy of Fallot Postural instability Anterior plagiocephaly Patellar hypoplasia Aplasia/Hypoplasia of the patella Abnormal cardiac septum morphology Duodenal stenosis Coarse facial features Hypogonadism Renal insufficiency Pulmonic stenosis Abnormality of the skeletal system Epicanthus Ptosis Abnormal facial shape Urethral stricture Hypohidrosis Respiratory distress Hydrocephalus Malar flattening Microphthalmia Midface retrusion Diastolic heart murmur Cleft lip Short philtrum Lissencephaly Absent phalangeal crease Chronic diarrhea Macroglossia Absent penis Urethral atresia, male Urethral fistula Neoplasm Muscle weakness Hepatomegaly Splenomegaly Clinodactyly Polyhydramnios Umbilical hernia Hypoglycemia Abnormality of the kidney Autistic behavior Facial asymmetry Premature birth Incomplete male pseudohermaphroditism Nevus flammeus Anterior creases of earlobe Abdominal wall defect Rhabdomyosarcoma Visceromegaly Hemihypertrophy Diastasis recti Neonatal hypoglycemia Overgrowth Enlarged kidney Abnormality of the ureter Large for gestational age Nephroblastoma Abnormality of the outer ear Abnormality of the face Cloacal abnormality Rectal fistula Auricular pit Bilateral talipes equinovarus Tachycardia Status epilepticus Abnormal autonomic nervous system physiology Agitation Hyperconvex nail Contractures of the interphalangeal joint of the thumb Abnormality of metabolism/homeostasis Hydronephrosis Oligohydramnios Gynecomastia Abnormality of the hair Abnormality of the voice Bifid scrotum Tracheoesophageal fistula Hydroureter Fetal pyelectasis Bilateral renal agenesis Unilateral renal hypoplasia Bilateral lung agenesis Abnormality of the bladder Anorectal anomaly Bilateral renal hypoplasia Atrophy of the spinal cord Urogenital sinus anomaly Decreased fertility Ambiguous genitalia, male Perineal hypospadias Cystic renal dysplasia Abnormality of the endocrine system Maternal diabetes Male pseudohermaphroditism Embryonal neoplasm Feeding difficulties Postnatal microcephaly Hypertension Delayed eruption of permanent teeth Absent fingernail Aplasia/Hypoplasia of the middle phalanges of the hand Aplasia/Hypoplasia of the distal phalanges of the toes Distal symphalangism of hands Aplasia/Hypoplasia of the distal phalanges of the hand Hypoplastic sacrum Absent distal phalanges Proximal symphalangism of hands Aplasia/Hypoplasia of the nails Distal symphalangism Type B brachydactyly Short distal phalanx of toe Aplasia/Hypoplasia of the middle phalanges of the toes Muscular hypotonia Symphalangism affecting the phalanges of the hand Thin upper lip vermilion Pachygyria Specific learning disability Decreased testicular size Malabsorption Severe global developmental delay Feeding difficulties in infancy High forehead Spasticity Respiratory failure Hyperactivity Prominent forehead Long philtrum Diarrhea Hyperreflexia Cutaneous syndactyly of toes Short 1st metacarpal Intrauterine growth retardation Toe syndactyly Gait ataxia Autism Rhizomelia Coxa valga Accelerated skeletal maturation Metaphyseal widening Scaphocephaly Obstructive sleep apnea Broad femoral neck Sensorineural hearing impairment Brachydactyly Syndactyly Finger syndactyly Hypermetropia Short distal phalanx of finger Hypoplastic fingernail Delayed cranial suture closure Thoracolumbar scoliosis Carpal synostosis Synostosis of carpal bones Cutaneous finger syndactyly Tarsal synostosis Vertebral fusion Anonychia Short foot Short middle phalanx of finger Proximal placement of thumb Short long bone Cutaneous syndactyly Joint contracture of the hand Broad thumb Gait imbalance



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