Cryptorchidism, and Sarcoma

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO IMPRINTING DEFECT OF 11P15

• Seizures
• Neoplasm
• Muscle weakness
• Cleft palate
• Cryptorchidism

SOURCES: ORPHANET MENDELIAN

Low match OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

• Hearing impairment
• Ataxia
• Strabismus
• Abnormal facial shape
• Macrocephaly

SOURCES: ORPHANET OMIM MENDELIAN

Low match ISOLATED HEMIHYPERPLASIA

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

• Seizures
• Scoliosis
• Neoplasm
• Cryptorchidism
• Hydrocephalus

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

• Global developmental delay
• Short stature
• Scoliosis
• Hypertelorism
• Muscle weakness

SOURCES: ORPHANET OMIM MENDELIAN

Low match PAPILLOMA OF CHOROID PLEXUS; CPP

Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

• Intellectual disability
• Seizures
• Hypertelorism
• Neoplasm
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

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

SOURCES: OMIM MENDELIAN

Low match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match LATERAL MENINGOCELE SYNDROME

Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

• Global developmental delay
• Short stature
• Generalized hypotonia
• Hearing impairment
• Scoliosis

SOURCES: ORPHANET OMIM MENDELIAN

Low match SOTOS SYNDROME 3; SOTOS3

• Intellectual disability
• Seizures
• Generalized hypotonia
• Neoplasm
• Cleft palate

SOURCES: ORPHANET OMIM MENDELIAN

Low match FAMILIAL BENIGN CHRONIC PEMPHIGUS

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

• Intellectual disability
• Short stature
• Hearing impairment
• Growth delay
• Neoplasm

SOURCES: OMIM ORPHANET MENDELIAN