Cryptorchidism, and Protruding ear

High match MENTAL RETARDATION, X-LINKED 93; MRX93

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

• Intellectual disability
• Generalized hypotonia
• Muscular hypotonia
• Cryptorchidism
• Delayed speech and language development

SOURCES: OMIM MESH MENDELIAN

High match OROFACIAL CLEFT 15; OFC15

• Hypertelorism
• Abnormal facial shape
• Cryptorchidism
• Low-set ears
• Epicanthus

SOURCES: OMIM MENDELIAN

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

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

SOURCES: MESH OMIM MENDELIAN

High match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

• Global developmental delay
• Hearing impairment
• Microcephaly
• Scoliosis
• Growth delay

SOURCES: MESH ORPHANET MENDELIAN

High match ABRUZZO-ERICKSON SYNDROME

Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

• Intellectual disability
• Short stature
• Hearing impairment
• Sensorineural hearing impairment
• Cleft palate

SOURCES: OMIM MESH ORPHANET MENDELIAN

High match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Scoliosis

SOURCES: ORPHANET OMIM MENDELIAN

High match X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME

X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.

• Seizures
• Microcephaly
• Sensorineural hearing impairment
• Abnormal facial shape
• Muscular hypotonia

SOURCES: ORPHANET MENDELIAN

High match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

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

SOURCES: MESH ORPHANET OMIM MENDELIAN

High match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

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

SOURCES: MESH ORPHANET OMIM MENDELIAN

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

• Seizures
• Generalized hypotonia
• Microcephaly
• Hypertelorism
• Failure to thrive

SOURCES: ORPHANET OMIM MENDELIAN