Depressed nasal bridge, and Myopia

Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous otospondylomegaepiphyseal dysplasia|heterozygous osmed|pierre robin sequence-fetal chondrodysplasia syndrome|pierre robin syndrome-fetal chondrodysplasia syndrome

• Hypertelorism
• Micrognathia
• Muscular hypotonia
• Cleft palate
• Delayed speech and language development

SOURCES: ORPHANET MENDELIAN

Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

• Hearing impairment
• Micrognathia
• Sensorineural hearing impairment
• Cleft palate
• Cataract

SOURCES: OMIM ORPHANET MENDELIAN

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Hypertelorism

SOURCES: OMIM ORPHANET MENDELIAN

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

SOURCES: OMIM MESH MENDELIAN

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

• Intellectual disability
• Hearing impairment
• Strabismus
• Sensorineural hearing impairment
• Abnormal facial shape

SOURCES: ORPHANET OMIM MENDELIAN

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly
• Scoliosis

SOURCES: ORPHANET OMIM MENDELIAN

Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).

GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME Is also known as gemss|mesodermal dysmorphodystrophy, congenital|gemss syndrome|weill-marchesani syndrome, autosomal dominant|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|spherophakia-brachymorphia syndrome

• Intellectual disability
• Short stature
• Scoliosis
• Cataract
• Depressed nasal bridge

SOURCES: ORPHANET OMIM MENDELIAN

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

WEILL-MARCHESANI SYNDROME 1; WMS1 Is also known as weill-marchesani syndrome, autosomal recessive|mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome

• Intellectual disability
• Short stature
• Scoliosis
• Cataract
• Depressed nasal bridge

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Global developmental delay
• Microcephaly
• Nystagmus
• Strabismus

SOURCES: OMIM ORPHANET MENDELIAN

JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

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

SOURCES: OMIM MENDELIAN