Cryptorchidism, and Polydactyly

Diseases related with Cryptorchidism and Polydactyly

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


Top matches:

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE


X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

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Other less relevant matches:

Low match HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME


HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME Is also known as ostravik-lindemann-solberg syndrome

Related symptoms:

  • Hypertelorism
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Syndactyly
  • Patent ductus arteriosus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Low match HYDROLETHALUS


Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Low match TIBIAL HEMIMELIA-POLYSYNDACTYLY-TRIPHALANGEAL THUMB SYNDROME


Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.

TIBIAL HEMIMELIA-POLYSYNDACTYLY-TRIPHALANGEAL THUMB SYNDROME Is also known as absent tibia-polydactyly syndrome|tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia

Related symptoms:

  • Short stature
  • Cryptorchidism
  • Talipes equinovarus
  • Syndactyly
  • Abnormal heart morphology


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TIBIAL HEMIMELIA-POLYSYNDACTYLY-TRIPHALANGEAL THUMB SYNDROME

Low match PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME


Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

Low match JAWAD SYNDROME


Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cryptorchidism
  • Intellectual disability, severe
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JAWAD SYNDROME

Low match SALDINO-MAINZER SYNDROME


Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.

SALDINO-MAINZER SYNDROME Is also known as renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|conorenal syndrome

Related symptoms:

  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about SALDINO-MAINZER SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Polydactyly

Symptoms // Phenotype % cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Oral cleft Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Global developmental delay Seizures Retrognathia Cleft lip

Rare Symptoms - Less than 30% cases


Delayed speech and language development Bilateral cryptorchidism Preaxial polydactyly Upslanted palpebral fissure Synophrys Sloping forehead Abnormal heart morphology Toe syndactyly Postaxial hand polydactyly Cutaneous syndactyly Aggressive behavior Micromelia Cleft upper lip Polyhydramnios Brachydactyly Obesity Depressed nasal bridge Hypogonadism Rod-cone dystrophy Radioulnar synostosis Triphalangeal thumb Absent thumb Aplasia/Hypoplasia of the thumb Synostosis of carpal bones Bell-shaped thorax Short tibia Recurrent respiratory infections Short thorax Confusion Depressed nasal tip Patellar aplasia Abnormality of fibula morphology Short lower limbs Absent tibia Aganglionic megacolon Gingival cleft Talipes equinovarus Absent septum pellucidum Deeply set eye Low-set, posteriorly rotated ears Lateral clavicle hook Bifid uvula Premature birth Laryngomalacia Anophthalmia Submucous cleft hard palate Aplasia/Hypoplasia of the tibia Anencephaly Abnormality of the respiratory system Thoracic dysplasia Arrhinencephaly Unilateral cleft lip Abnormality of the sense of smell Abnormality of the fallopian tube Tracheal atresia Fibular bowing Cataract Limb duplication Short ribs Single transverse palmar crease Prominent nose Hallux valgus Anonychia Abnormality of digit Thoracic scoliosis Short middle phalanx of the 5th finger Congenital microcephaly Microcephaly 4-5 toe syndactyly Single interphalangeal crease of fifth finger Absent fourth finger distal interphalangeal crease Ectodermal dysplasia Stage 5 chronic kidney disease Narrow chest Respiratory insufficiency Respiratory distress Intellectual disability, severe Cystic renal dysplasia Renal insufficiency Cerebellar hypoplasia Spasticity Hyperreflexia Thoracic hypoplasia Hepatomegaly Ventriculomegaly Edema Metaphyseal widening Dilatation Abnormality of the kidney Ectopic kidney Short long bone Abnormality of the cerebral white matter Agenesis of corpus callosum Cerebral calcification Abnormality of the genitourinary system Progressive neurologic deterioration Postnatal microcephaly Nephrocalcinosis Congenital cataract Epicanthus Abnormality of cardiovascular system morphology Anterior pituitary hypoplasia Diabetes insipidus High pitched voice Hypopituitarism Poor appetite Panhypopituitarism Adrenocorticotropic hormone deficiency Microphallus Bilateral postaxial polydactyly Depressed nasal ridge Ectopic posterior pituitary Scoliosis Atrial septal defect Intellectual disability, mild Autism Pes planus Autistic behavior Long face Holoprosencephaly Hypotelorism Decreased testicular size Retinal dystrophy Cognitive impairment Blindness Abnormality of the dentition Clinodactyly Reduced visual acuity Nyctalopia Retinal degeneration Renal cyst Growth hormone deficiency Anosmia External genital hypoplasia Growth delay Pain Midface retrusion Delayed skeletal maturation Abdominal pain Micropenis Broad nasal tip Low posterior hairline Microphthalmia Hyperactivity Benign neoplasm of the central nervous system 2-3 finger syndactyly Imperforate hymen Cor triatriatum Hearing impairment Sensorineural hearing impairment Intrauterine growth retardation Acidosis Hamartoma of tongue Neonatal hypotonia Poor speech Metabolic acidosis Renal tubular acidosis Proximal renal tubular acidosis Micrognathia Low-set ears Hydrocephalus Duplication of phalanx of hallux Common atrium Nasal speech Long toe Prominent supraorbital ridges Large hands Preaxial hand polydactyly Slender finger Thoracic kyphosis Bilateral cleft lip Bilateral cleft lip and palate Hypertelorism Complete atrioventricular canal defect Abnormality of the skeletal system Patent ductus arteriosus Pneumonia Coarctation of aorta Hand polydactyly Broad hallux Cutaneous finger syndactyly Subvalvular aortic stenosis Horizontal ribs



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