Hypertelorism, and Ptosis

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment

SOURCES: OMIM MENDELIAN

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.

JACKSON-WEISS SYNDROME Is also known as craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|jws

• Hypertelorism
• Strabismus
• Ptosis
• Frontal bossing
• Midface retrusion

SOURCES: OMIM ORPHANET MENDELIAN

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

• Global developmental delay
• Short stature
• Hypertelorism
• Abnormal facial shape
• Cryptorchidism

SOURCES: OMIM MENDELIAN

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

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

SOURCES: OMIM MENDELIAN

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

• Intellectual disability
• Growth delay
• Hypertelorism
• Micrognathia
• Abnormal facial shape

SOURCES: OMIM ORPHANET MENDELIAN

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

• Global developmental delay
• Short stature
• Hypertelorism
• Ptosis
• Depressed nasal bridge

SOURCES: ORPHANET MENDELIAN

• Intellectual disability
• Global developmental delay
• Short stature
• Hypertelorism
• Abnormal facial shape

SOURCES: MESH OMIM MENDELIAN

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

• Hearing impairment
• Hypertelorism
• Micrognathia
• Sensorineural hearing impairment
• Abnormal facial shape

SOURCES: OMIM ORPHANET MESH MENDELIAN

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Hypertelorism
• Ptosis

SOURCES: ORPHANET OMIM MENDELIAN

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

• Short stature
• Hypertelorism
• Cryptorchidism
• Ptosis
• Downslanted palpebral fissures

SOURCES: OMIM MENDELIAN