Cryptorchidism, and Postaxial polydactyly

Diseases related with Cryptorchidism and Postaxial polydactyly

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


Top matches:

Medium 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

Medium 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

Medium 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

Mendelian

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

Learn more

Other less relevant matches:

Medium 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

Medium 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

Medium 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

Medium match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


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

Medium match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Medium match ACROCALLOSAL SYNDROME


Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Medium match MCKUSICK-KAUFMAN SYNDROME; MKKS


McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

Top 5 symptoms//phenotypes associated to Cryptorchidism and Postaxial polydactyly

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Postaxial hand polydactyly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Syndactyly Micropenis Oral cleft Micromelia Hypospadias Brachydactyly Aganglionic megacolon Abnormality of the skeletal system Cleft lip

Rare Symptoms - Less than 30% cases


Tetralogy of Fallot Patent ductus arteriosus Abnormal heart morphology Polyhydramnios Agenesis of corpus callosum Aplasia/Hypoplasia of the corpus callosum Abnormality of cardiovascular system morphology Hydrometrocolpos Hydrocephalus Cutaneous syndactyly Depressed nasal tip Triphalangeal thumb Intellectual disability Low-set ears Sensorineural hearing impairment Hydronephrosis Anal atresia Micrognathia Seizures Retrognathia Hypertelorism Bilateral cryptorchidism Depressed nasal bridge Midface retrusion Cleft upper lip Rod-cone dystrophy Holoprosencephaly Obesity Respiratory distress Ambiguous genitalia Microphallus Deeply set eye Renal hypoplasia/aplasia Bell-shaped thorax Thoracic dysplasia Barrel-shaped chest Wide intermamillary distance Lateral clavicle hook Horizontal ribs Abnormal facial shape Urogenital sinus anomaly Ectopic anus Postaxial foot polydactyly Tarsal synostosis Hypoplastic left heart Abnormality of the metacarpal bones Shield chest Ulnar deviation of the hand Adrenal hypoplasia Abnormality of the pinna Finger syndactyly Wide nasal bridge Sandal gap Atrial septal defect Ventricular septal defect High palate Failure to thrive Scrotal hypoplasia Malar flattening Ulnar deviation of the hand or of fingers of the hand Ventriculomegaly Multicystic kidney dysplasia Retinopathy Urethral stricture Edema of the lower limbs Choanal atresia Lymphedema Hydrops fetalis Abnormal vertebral morphology Congenital hip dislocation Polycystic kidney dysplasia Tracheoesophageal fistula Hydroureter Esophageal atresia Nonimmune hydrops fetalis Amenorrhea Rectovaginal fistula Vaginal atresia Chordee Penoscrotal hypospadias Transverse vaginal septum Mesoaxial hand polydactyly Prominent scrotal raphe Vesicovaginal fistula Pelvic mass Primary amenorrhea Abdominal distention Glandular hypospadias Congenital diaphragmatic hernia Generalized hypotonia Ataxia Macrocephaly Intellectual disability, severe Inguinal hernia Thoracic hypoplasia Retinal dystrophy Dandy-Walker malformation Sloping forehead Apraxia Pulmonary hypoplasia Tall stature Wide anterior fontanel Oculomotor apraxia Aplasia/Hypoplasia of the cerebellum Prominent occiput Molar tooth sign on MRI Nephronophthisis Abnormality of the clavicle Edema Short thorax Short lower limbs Metaphyseal widening Imperforate hymen Cutaneous finger syndactyly Subvalvular aortic stenosis Complete atrioventricular canal defect Common atrium Hamartoma of tongue Duplication of phalanx of hallux Benign neoplasm of the central nervous system 2-3 finger syndactyly Cor triatriatum Hand polydactyly Hearing impairment Epicanthus Intrauterine growth retardation Upslanted palpebral fissure Hyperactivity Acidosis Neonatal hypotonia Aggressive behavior Broad hallux Coarctation of aorta Poor speech Diabetes insipidus Growth delay Pain Delayed skeletal maturation Hypogonadism Abdominal pain Growth hormone deficiency Hypotelorism Depressed nasal ridge High pitched voice Toe syndactyly Hypopituitarism Poor appetite Panhypopituitarism Adrenocorticotropic hormone deficiency Anterior pituitary hypoplasia Bilateral postaxial polydactyly Ectopic posterior pituitary Pneumonia Synophrys Metabolic acidosis Short long bone Delayed speech and language development Synostosis of carpal bones Short tibia Patellar aplasia Abnormality of fibula morphology Absent tibia Fibular bowing Aplasia/Hypoplasia of the tibia Limb duplication Respiratory insufficiency Absent thumb Renal insufficiency Recurrent respiratory infections Narrow chest Stage 5 chronic kidney disease Ectodermal dysplasia Short ribs Nephrocalcinosis Abnormality of the genitourinary system Aplasia/Hypoplasia of the thumb Preaxial polydactyly Renal tubular acidosis Submucous cleft hard palate Proximal renal tubular acidosis Microphthalmia Low-set, posteriorly rotated ears Bifid uvula Premature birth Laryngomalacia Anophthalmia Absent septum pellucidum Anencephaly Radioulnar synostosis Abnormality of the respiratory system Arrhinencephaly Unilateral cleft lip Abnormality of the sense of smell Abnormality of the fallopian tube Tracheal atresia Gingival cleft Talipes equinovarus Confusion Hydrocolpos



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Proptosis, related diseases and genetic alterations Brachydactyly and Intellectual disability, profound, related diseases and genetic alterations Visual impairment and Lymphopenia, related diseases and genetic alterations Pain and Macrocephaly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more