Cryptorchidism, and Abnormality of the eye

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).

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

SOURCES: ORPHANET OMIM MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: OMIM MESH MENDELIAN

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3

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

• Cataract
• Cryptorchidism
• Microphthalmia
• Coloboma
• Congenital cataract

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

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).

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

SOURCES: OMIM MENDELIAN