Hydrocephalus, and Hypospadias

Diseases related with Hydrocephalus and Hypospadias

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

Top matches:

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Other less relevant matches:

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Medium match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Medium match ALG12-CDG

ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).

ALG12-CDG Is also known as cdg1g|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type ig|cdgig|cdg ig|carbohydrate deficient glycoprotein syndrome type ig|cdg syndrome type ig|congenital disorder of glycosylation type 1g|cdg-ig

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG12-CDG

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Medium match MIRAGE SYNDROME

MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hypospadias

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Hypospadias. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Talipes equinovarus Postaxial polydactyly Macrocephaly Abnormality of the pinna Polydactyly Micrognathia Cleft palate Agenesis of corpus callosum Anemia Umbilical hernia Frontal bossing Hip dislocation Encephalocele Wide nasal bridge Hearing impairment Inguinal hernia Intrauterine growth retardation Sepsis Low-set ears Failure to thrive Abnormal facial shape Scoliosis Micropenis

Rare Symptoms - Less than 30% cases

Strabismus Blindness Arrhinencephaly High forehead Hernia Respiratory tract infection Intellectual disability, mild Telecanthus Postaxial hand polydactyly Glaucoma Radial club hand Generalized hypotonia Short philtrum Anal atresia Confusion Microcornea Decreased antibody level in blood Shawl scrotum Muscular hypotonia Microcephaly Abnormal heart morphology Cognitive impairment Heterotopia Anencephaly Occipital encephalocele Pulmonary hypoplasia Abnormality of the skeletal system Preaxial polydactyly Malar flattening Syndactyly Midface retrusion Polyhydramnios Cleft lip Microphthalmia Preaxial hand polydactyly Oral cleft Sandal gap Holoprosencephaly Scrotal hypoplasia Adrenal hypoplasia Diarrhea Patent ductus arteriosus Recurrent respiratory infections Preaxial foot polydactyly Hypoplasia of the radius Lymphopenia Gastroesophageal reflux Retrognathia Epicanthus Microphallus Immunodeficiency Joint contracture of the hand Trigonocephaly Large for gestational age Accelerated skeletal maturation Cutaneous syndactyly Broad hallux Plagiocephaly Hand polydactyly Broad thumb Hyperglycemia Congenital diaphragmatic hernia Accessory spleen Postural instability Severe hydrocephalus Absent septum pellucidum Abnormal lung lobation Median cleft lip Upper limb undergrowth Broad neck Bilateral cleft lip Bilateral cleft lip and palate Tracheal stenosis Abnormal cortical gyration Complete atrioventricular canal defect Bifid nose Abnormal vagina morphology Partial agenesis of the corpus callosum Laryngeal hypoplasia Hirsutism Duplication of phalanx of hallux Bifid uterus Agenesis of the diaphragm Adrenal gland dysgenesis Cleft in skull base Proximal tibial hypoplasia Delayed speech and language development Downslanted palpebral fissures Prominent forehead Camptodactyly Craniosynostosis Finger syndactyly Toe syndactyly Delayed cranial suture closure Decreased testicular size Abnormality of digit Spina bifida Petechiae Aspiration pneumonia Overlapping fingers Achalasia Esophageal stricture Hypoplastic spleen Respiratory insufficiency Abnormality of cardiovascular system morphology Respiratory failure Abnormality of the kidney Renal agenesis Renal hypoplasia Abnormal form of the vertebral bodies Abnormal vertebral morphology Hemivertebrae Adrenal insufficiency Abnormality of the outer ear Renal hypoplasia/aplasia Anophthalmia Tracheoesophageal fistula Absent thumb Abnormality of the vertebral column Esophageal atresia Single umbilical artery Abnormality of the optic nerve Aqueductal stenosis Anotia Femoral hernia Absence of the sacrum Abnormality of the fallopian tube Hyperkalemia Rocker bottom foot Cutaneous finger syndactyly 1-3 toe syndactyly Scaphocephaly Foot polydactyly Postaxial foot polydactyly Abnormality of finger High anterior hairline Broad hallux phalanx Medulloblastoma Cutaneous syndactyly of toes Metopic synostosis Abnormality of muscle fibers Camptodactyly of toe Abnormality of calvarial morphology 3-4 finger syndactyly Duplication of the distal phalanx of hand Motor delay Hyponatremia Thrombocytopenia Hypoglycemia Paraplegia Recurrent urinary tract infections Decreased body weight Chronic diarrhea Hyperpigmentation of the skin Hypergonadotropic hypogonadism Meningitis Recurrent bacterial infections Leukopenia Abnormal intestine morphology Intracranial hemorrhage Myelodysplasia Omphalocele Agammaglobulinemia Dandy-Walker malformation Hypoplasia of the iris Microdontia Choanal atresia Hypoplasia of dental enamel Reduced number of teeth Slurred speech Prominent supraorbital ridges Myotonia Abnormality of dental morphology Anal stenosis Aniridia Megalocornea Posterior embryotoxon Anterior synechiae of the anterior chamber Hypoplasia of the maxilla Abnormality of the abdominal wall Rieger anomaly Polycoria Bilateral choanal atresia Axenfeld anomaly Abnormally prominent line of Schwalbe Cataract Spasticity Hypoplasia of the corpus callosum Atrial septal defect Hypertonia Behavioral abnormality Growth hormone deficiency Hypodontia Autism Ulnar deviation of the hand or of fingers of the hand Brachydactyly Ventriculomegaly Deeply set eye Micromelia Cleft upper lip Wide intermamillary distance Ambiguous genitalia Aplasia/Hypoplasia of the corpus callosum Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Ptosis Everted lower lip vermilion Renal cyst Exotropia Narrow palpebral fissure Sacral dimple Molar tooth sign on MRI Muscle weakness Abnormality of the dentition Kyphosis Visual loss Mandibular prognathia Thin upper lip vermilion Conductive hearing impairment Hyperactivity Anxiety Premature birth Rhizomelia Abnormality of chromosome stability Decrease in T cell count Abnormality of neutrophils Impaired T cell function Sensorineural hearing impairment Feeding difficulties Cardiomyopathy Edema Skeletal dysplasia Severe global developmental delay Limb undergrowth Abnormality of the genital system Progressive microcephaly Chronic bronchitis Hypocalcemia Epiphyseal dysplasia Short humerus Abnormality of immune system physiology IgG deficiency Short tibia Short femur Prolonged partial thromboplastin time Generalized edema Butterfly vertebrae Ventricular septal defect Hydronephrosis Cellular immunodeficiency Communicating hydrocephalus Intellectual disability, moderate Short nose Autistic behavior Attention deficit hyperactivity disorder Arthrogryposis multiplex congenita Hip dysplasia Specific learning disability Tetralogy of Fallot Hallucinations Schizophrenia Relative macrocephaly Constrictive median neuropathy Depressed nasal bridge Anteverted nares Recurrent infections Protruding tongue Pneumonia Malabsorption Flat face Neurodegeneration Macroglossia Otitis media Bronchiectasis Sinusitis Recurrent pneumonia Malnutrition Combined immunodeficiency Bronchitis Microtia, third degree


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