Cryptorchidism, and Coronary artery atherosclerosis

Medium match OGDEN SYNDROME

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

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

SOURCES: ORPHANET OMIM MENDELIAN

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

• Intellectual disability
• Global developmental delay
• Hearing impairment
• Microcephaly
• Sensorineural hearing impairment

SOURCES: ORPHANET MESH OMIM MENDELIAN

Medium match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

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

SOURCES: OMIM ORPHANET MESH MENDELIAN

Medium match EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

• Global developmental delay
• Short stature
• Hypertelorism
• Pain
• Cryptorchidism

SOURCES: ORPHANET OMIM MENDELIAN

Medium match ALAGILLE SYNDROME 1; ALGS1

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

• Intellectual disability
• Global developmental delay
• Short stature
• Hearing impairment
• Growth delay

SOURCES: OMIM ORPHANET MENDELIAN

Low match YUNIS-VARON SYNDROME

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Hearing impairment

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match COCKAYNE SYNDROME TYPE 1

Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Hearing impairment

SOURCES: ORPHANET OMIM MENDELIAN

Low match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

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

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match LEOPARD SYNDROME 1; LPRD1

LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Hearing impairment

SOURCES: OMIM MENDELIAN

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