Cryptorchidism, and Abnormality of the eye

Diseases related with Cryptorchidism and Abnormality of the eye

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


Top matches:

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

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 PARTIAL CHROMOSOME Y DELETION


Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.

PARTIAL CHROMOSOME Y DELETION Is also known as male sterility due to chromosome y deletion

Related symptoms:

  • Cryptorchidism
  • Decreased testicular size
  • Male infertility
  • Oligospermia
  • Abnormal spermatogenesis


SOURCES: ORPHANET MENDELIAN

More info about PARTIAL CHROMOSOME Y DELETION

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Other less relevant matches:

Low match THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA


Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.

THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA Is also known as congenital dyserythropoietic anemia with thombocytopenia|x-linked congenital dyserythropoietic anemia with thrombocytopenia|xdat

Related symptoms:

  • Cryptorchidism
  • Anisocytosis
  • Anemia of inadequate production
  • Poikilocytosis
  • Macrothrombocytopenia


SOURCES: ORPHANET MENDELIAN

More info about THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA

Low match 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 5-ALPHA-REDUCTASE 2 DEFICIENCY


46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.

46,XY DISORDER OF SEX DEVELOPMENT DUE TO 5-ALPHA-REDUCTASE 2 DEFICIENCY Is also known as steroid 5-alpha-reductase deficiency|pseudovaginal perineoscrotal hypospadias|46,xy dsd due to 5-alpha-reductase 2 deficiency

Related symptoms:

  • Cryptorchidism
  • Hypoplasia of penis
  • Ambiguous genitalia
  • Scrotal hypoplasia
  • Bifid scrotum


SOURCES: ORPHANET MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 5-ALPHA-REDUCTASE 2 DEFICIENCY

Low match 46,XY SEX REVERSAL 4; SRXY4


Sex reversal in an individual associated with a 9p24.3 deletion.

46,XY SEX REVERSAL 4; SRXY4 Is also known as 46,xy gonadal dysgenesis, partial or complete, with 9p24.3 deletion|chromosome 9p24.3 deletion syndrome

Related symptoms:

  • Cryptorchidism
  • Hypogonadism
  • Decreased testicular size
  • Ambiguous genitalia
  • Hypergonadotropic hypogonadism


SOURCES: OMIM MESH MENDELIAN

More info about 46,XY SEX REVERSAL 4; SRXY4

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3


MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 Is also known as microphthalmia, colobomatous, isolated 3

Related symptoms:

  • Cataract
  • Cryptorchidism
  • Microphthalmia
  • Coloboma
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3

Low match CRYPTORCHIDISM, UNILATERAL OR BILATERAL


Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

CRYPTORCHIDISM, UNILATERAL OR BILATERAL Is also known as undescended testis

Related symptoms:

  • Cryptorchidism
  • Hypogonadism
  • Abnormality of the kidney
  • Infertility
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about CRYPTORCHIDISM, UNILATERAL OR BILATERAL

Low match SPERMATOGENIC FAILURE 28; SPGF28


Spermatogenic failure-28 is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018).For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Cryptorchidism
  • Infertility
  • Azoospermia
  • Tubular atrophy
  • Elevated circulating follicle stimulating hormone level


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 28; SPGF28

Low match ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).

Related symptoms:

  • Cryptorchidism
  • Hernia
  • Inguinal hernia
  • Alopecia
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9

Top 5 symptoms//phenotypes associated to Cryptorchidism and Abnormality of the eye

Symptoms // Phenotype % cases
Hypogonadism Uncommon - Between 30% and 50% cases
Intellectual disability Rare - less than 30% cases
Abnormality of the dentition Rare - less than 30% cases
Decreased testicular size Rare - less than 30% cases
Infertility Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Azoospermia Unilateral cryptorchidism Ambiguous genitalia Inguinal hernia Hypergonadotropic hypogonadism Microphthalmia Cataract Sex reversal Fragile nails Gonadal dysgenesis Malnutrition Urogenital sinus anomaly Congenital cataract Ambiguous genitalia, male Perineal hypospadias Abnormality of the endocrine system Decreased fertility Bifid scrotum Scrotal hypoplasia Coloboma Retinal detachment Alopecia Nail dystrophy Hernia Varicocele Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Tubular atrophy Delayed menarche Bilateral cryptorchidism Microcornea Hypotrichosis Renal agenesis Ectodermal dysplasia Hypoplasia of penis Abnormality of the genital system Lens luxation Abnormality of the kidney Abnormal lactate dehydrogenase activity Abnormality of multiple cell lineages in the bone marrow Autistic behavior Syndactyly Blindness Brachydactyly Cognitive impairment Coarctation of aorta Thin vermilion border Hypermetropia Patent ductus arteriosus Clinodactyly Atrial septal defect Feeding difficulties Cleft palate Strabismus Microcephaly Generalized hypotonia Short stature Obesity Rod-cone dystrophy Abnormal megakaryocyte morphology Abnormal spermatogenesis Global developmental delay Hypochromic anemia Macrothrombocytopenia Poikilocytosis Anemia of inadequate production Anisocytosis Non-obstructive azoospermia Oligospermia Polydactyly Male infertility External genital hypoplasia Anosmia Renal cyst Retinal dystrophy Retinal degeneration Nyctalopia Reduced visual acuity Concave nail



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