Cryptorchidism, and Syndactyly

Diseases related with Cryptorchidism and Syndactyly

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


Top matches:

Medium 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 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

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

Mendelian

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

Learn more

Other less relevant matches:

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 AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME


Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Thin upper lip vermilion


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM 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 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

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7


Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Low 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

Low match SQUALENE SYNTHASE DEFICIENCY; SQSD


Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

Top 5 symptoms//phenotypes associated to Cryptorchidism and Syndactyly

Symptoms // Phenotype % cases
Toe syndactyly Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scrotal hypoplasia Abnormality of the skeletal system Brachydactyly Global developmental delay Retrognathia Postaxial polydactyly

Rare Symptoms - Less than 30% cases


Popliteal pterygium Fibrous syngnathia Patent ductus arteriosus Abnormal heart morphology Failure to thrive Ankyloblepharon Cutaneous syndactyly Short stature Polymicrogyria Hypoplasia of the corpus callosum Cutaneous finger syndactyly Aganglionic megacolon Seizures Bilateral cryptorchidism Depressed nasal tip Deeply set eye Finger syndactyly Ambiguous genitalia Hypospadias Abnormal facial shape Hypoplastic labia majora Postaxial hand polydactyly Talipes equinovarus Bifid scrotum Cleft lip Cleft upper lip Bifid uvula Flexion contracture Tarsal synostosis Irritability Abnormality of the pinna Low-set, posteriorly rotated ears Micromelia Wide intermamillary distance Oral cleft Sandal gap Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Adrenal hypoplasia Barrel-shaped chest Macrotia Shield chest Ulnar deviation of the hand Dry skin Cutaneous photosensitivity Micropenis Wide nasal bridge Congenital microcephaly 4-5 toe syndactyly Single interphalangeal crease of fifth finger Absent fourth finger distal interphalangeal crease Optic nerve hypoplasia Low-set ears Ventriculomegaly Ulnar deviation of the hand or of fingers of the hand Hydrocephalus Malar flattening Midface retrusion Bicuspid aortic valve Agenesis of corpus callosum Cerebral visual impairment Microphallus Generalized hypotonia Posteriorly rotated ears Thoracic scoliosis Abnormality of the metacarpal bones Renal hypoplasia/aplasia Postaxial foot polydactyly Ectopic anus Multicystic kidney dysplasia Tetralogy of Fallot Anal atresia Urogenital sinus anomaly Hydronephrosis Atrial septal defect Ventricular septal defect High palate Urethral stricture Hydrometrocolpos Cortical dysplasia Epicanthus Myopia Depressed nasal bridge Hypoplastic left heart Visual impairment Hearing impairment Cataract Strabismus Optic atrophy Abnormality of neuronal migration Glandular hypospadias Short nose Absent speech Muscular hypotonia of the trunk Heterotopia 2-3 toe syndactyly Short middle phalanx of the 5th finger Abnormality of the ribs Abnormality of digit Intercrural pterygium Bilateral cleft lip Bilateral cleft lip and palate Labial hypoplasia Hypoplasia of the vagina Abnormality of the scrotum Lower lip pit Absent scrotum Pyramidal skinfold extending from the base to the top of the nails Pterygium Hypertelorism Pneumonia Coarctation of aorta Hand polydactyly Broad hallux Subvalvular aortic stenosis Complete atrioventricular canal defect Hypoplasia of the uterus Spina bifida occulta Hamartoma of tongue Reduced visual acuity Cognitive impairment Blindness Abnormality of the dentition Obesity Clinodactyly Rod-cone dystrophy Hypogonadism Nyctalopia Abnormality of the genital system Retinal degeneration Retinal dystrophy Renal cyst Anosmia External genital hypoplasia Dementia Overgrowth Common atrium Duplication of phalanx of hallux Anonychia Nonketotic hyperglycinemia Joint stiffness Specific learning disability Choanal atresia Split hand Abnormality of the nail Generalized hirsutism Non-midline cleft lip Lip pit Scoliosis Microcephaly Intellectual disability, severe Aggressive behavior Single transverse palmar crease Prominent nose Sloping forehead Hallux valgus Thin upper lip vermilion Limb duplication Benign neoplasm of the central nervous system Absent thumb 2-3 finger syndactyly Imperforate hymen Cor triatriatum Confusion Radioulnar synostosis Preaxial polydactyly Triphalangeal thumb Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia of the tibia Synostosis of carpal bones Short tibia Patellar aplasia Abnormality of fibula morphology Short lower limbs Absent tibia Fibular bowing Profound global developmental delay



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Syndactyly, related diseases and genetic alterations Congestive heart failure and Vertigo, related diseases and genetic alterations Fever and Tetralogy of Fallot, related diseases and genetic alterations Macrocephaly and Thrombocytopenia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more