Cryptorchidism, and Spina bifida

Diseases related with Cryptorchidism and Spina bifida

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


Top matches:

Medium match CAUDAL DUPLICATION


Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.

CAUDAL DUPLICATION Is also known as split notochord syndrome|dipygus

Related symptoms:

  • Cryptorchidism
  • Omphalocele
  • Abnormality of the genital system
  • Spina bifida
  • Renal hypoplasia/aplasia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CAUDAL DUPLICATION

Medium match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

Medium match EXSTROPHY OF BLADDER


Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (OMIM ). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.

Related symptoms:

  • Cryptorchidism
  • Recurrent infections
  • Inguinal hernia
  • Umbilical hernia
  • Anal atresia


SOURCES: OMIM ORPHANET MENDELIAN

More info about EXSTROPHY OF BLADDER

Mendelian

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

Learn more

Other less relevant matches:

Medium match 3MC SYNDROME


3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

Medium match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Medium match FRASER SYNDROME


Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Medium match ACROMELIC FRONTONASAL DYSPLASIA


Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Medium match CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED


CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Medium match AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS


Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

Medium match VACTERL WITH HYDROCEPHALUS


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 Cryptorchidism and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cryptorchidism and Spina bifida. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spina bifida occulta Abnormality of cardiovascular system morphology Hypertelorism Vertebral segmentation defect Omphalocele Anal atresia Wide nasal bridge Depressed nasal bridge Respiratory insufficiency Abnormality of the urinary system Hypospadias Myelomeningocele Renal hypoplasia Encephalocele Cleft palate

Rare Symptoms - Less than 30% cases


Abnormal vertebral morphology Hypoplasia of penis Hearing impairment Ambiguous genitalia Respiratory failure Low-set ears Vesicoureteral reflux Pulmonary hypoplasia Recurrent urinary tract infections Hemivertebrae Horseshoe kidney Calvarial skull defect Craniosynostosis Abnormal form of the vertebral bodies Ptosis Short stature Hip dislocation Single umbilical artery Finger syndactyly Anophthalmia Oral cleft Intrauterine growth retardation Low-set, posteriorly rotated ears Macrocephaly Abnormality of the genital system Renal hypoplasia/aplasia Renal agenesis Uterus didelphys Urogenital fistula Abnormality of the kidney Meningocele Talipes equinovarus Hernia Toe syndactyly Cleft upper lip Hypoplasia of the corpus callosum Overgrowth Hydrocephalus Microphthalmia Hyperlordosis Anteverted nares Seizures Telecanthus Global developmental delay Scrotal hypoplasia Delayed speech and language development Dilatation Thin upper lip vermilion Motor delay Autism Autistic behavior Renal insufficiency Abnormal cardiac septum morphology Micropenis Epicanthus Abnormality of the nervous system Midline central nervous system lipomas Feeding difficulties Patellar hypoplasia Large fontanelles Hypohidrosis Sparse and thin eyebrow Sparse eyelashes Hypopituitarism Median cleft lip Coronal craniosynostosis Abnormal toenail morphology Upper airway obstruction Preaxial foot polydactyly Bifid nasal tip Alopecia totalis Bifid nose Broad columella Thick nasal alae Abnormal facial shape Aplasia/Hypoplasia of the tibia Strabismus Growth delay Generalized hypotonia Abnormality of the glabella Poor speech Hypoplasia of the olfactory bulb Dermoid cyst Anterior pituitary hypoplasia Choroid plexus cyst Decreased lacrimation Retrocerebellar cyst Median cleft palate Large sella turcica Parietal foramina Microtia Short neck Stage 5 chronic kidney disease Retrognathia Double outlet right ventricle Disproportionate short-trunk short stature Rib fusion Anomalous pulmonary venous return Abnormality of female internal genitalia Abnormality of the intervertebral disk Cervical C2/C3 vertebral fusion Block vertebrae Abnormality of the odontoid process Rib segmentation abnormalities Micrognathia Anemia Abnormal heart morphology Polyhydramnios Microcornea Abnormality of immune system physiology Aqueductal stenosis Abnormality of the fallopian tube Absence of the sacrum Radial club hand Arrhinencephaly Femoral hernia Anotia Abnormality of the optic nerve Abnormality of the outer ear Esophageal atresia Occipital encephalocele Abnormality of the vertebral column Absent thumb Tracheoesophageal fistula Hypoplasia of the radius Abnormality of the ureter Prominent occiput Long face Short palpebral fissure Oligohydramnios Renal dysplasia Narrow face Chronic kidney disease Deep philtrum Ectopic kidney Poor eye contact Thickened helices Hyperechogenic kidneys Anteverted ears Hypoplastic helices Urethral valve Bifid ureter Decreased numbers of nephrons Atrial septal defect Short thorax Camptodactyly of finger Preaxial polydactyly Scapular winging Abnormality of the ribs Congenital diaphragmatic hernia Confusion Broad forehead Respiratory tract infection Congestive heart failure Kyphoscoliosis Polydactyly Severe short stature Recurrent respiratory infections Long philtrum Kyphosis Depressed nasal ridge Abnormal vagina morphology Cerebellar vermis hypoplasia Downslanted palpebral fissures Unilateral renal agenesis Hydroureter Bowel incontinence Anteriorly placed anus Epispadias Spinal dysraphism Macrothrombocytopenia Bladder exstrophy Abnormality of the anus Exstrophy Abnormality of the clitoris Cloacal exstrophy Bifid clitoris Postnatal growth retardation Intestinal malrotation Abnormality of the pinna Blepharophimosis Downturned corners of mouth Highly arched eyebrow Radioulnar synostosis Bilateral cryptorchidism Supernumerary nipple Diastasis recti Abnormal anterior chamber morphology Abnormal nasal morphology Epicanthus inversus Caudal appendage Large fleshy ears Abnormality of pelvic girdle bone morphology Recurrent infections Prominent coccyx Bifid scrotum Ureteral duplication Abnormal sacrum morphology Abnormality of the penis Spinal cord lesion Intestinal duplication Bifid sacrum Flexion contracture Abnormality of the skeletal system Syndactyly Dementia Cleft lip Bifid uvula Pterygium Hypoplasia of the uterus Pyramidal skinfold extending from the base to the top of the nails Cutaneous finger syndactyly Bilateral cleft lip Bilateral cleft lip and palate Hypoplastic labia majora Labial hypoplasia Ankyloblepharon Popliteal pterygium Hypoplasia of the vagina Abnormality of the scrotum Lower lip pit Fibrous syngnathia Absent scrotum Intercrural pterygium Limited pronation/supination of forearm Neoplasm Broad nasal tip Wide pubic symphysis Tracheal stenosis Ectopic anus Bifid tongue Abnormal hair pattern Bicornuate uterus Vaginal atresia Subglottic stenosis Laryngeal stenosis Abnormality of the middle ear Female pseudohermaphroditism Urethral atresia Cryptophthalmos Cleft ala nasi Lacrimal duct aplasia External ear malformation Midline nasal groove Malformed lacrimal duct Myopia Ventriculomegaly Alopecia Agenesis of corpus callosum Hyperhidrosis Upslanted palpebral fissure Brachycephaly Glaucoma Hyperkeratosis Wide mouth Sparse hair Abnormal lung lobation Anal stenosis Abnormality of the dentition Adrenocortical adenoma Intellectual disability, mild Carcinoma Facial asymmetry Bicuspid aortic valve Nephroblastoma Skeletal muscle hypertrophy Neurofibromas Multiple lipomas Impaired pain sensation Increased circulating cortisol level Communicating hydrocephalus Hemihypertrophy Pheochromocytoma Asymmetric growth Atresia of the external auditory canal Asymmetry of the thorax Hepatoblastoma Embryonal neoplasm Leiomyosarcoma Hemifacial hypertrophy Hemiareflexia High palate Blindness Conductive hearing impairment Dental malocclusion Underdeveloped nasal alae Wide intermamillary distance Dental crowding Multicystic kidney dysplasia Microtia, third degree



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Leukoencephalopathy, related diseases and genetic alterations Hepatomegaly and Sepsis, related diseases and genetic alterations Macrocephaly and Arthrogryposis multiplex congenita, related diseases and genetic alterations Flexion contracture and Sparse and thin eyebrow, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more