Hypertelorism, and Postaxial polydactyly

OROFACIODIGITAL SYNDROME XV; OFD15 Is also known as oral-facial-digital syndrome, type xv|ofds xv

• Hypertelorism
• Abnormal facial shape
• Wide nasal bridge
• Ventriculomegaly
• Anteverted nares

SOURCES: OMIM MENDELIAN

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

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

SOURCES: OMIM MENDELIAN

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

• Hypertelorism
• Cleft palate
• Talipes equinovarus
• Hydrocephalus
• Abnormality of cardiovascular system morphology

SOURCES: ORPHANET OMIM MENDELIAN

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

• Hypertelorism
• Epicanthus
• Brachydactyly
• Ventriculomegaly
• Respiratory insufficiency

SOURCES: OMIM MENDELIAN

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

• Intellectual disability
• Scoliosis
• Hypertelorism
• Cleft palate
• Frontal bossing

SOURCES: ORPHANET MESH OMIM MENDELIAN

• Intellectual disability
• Global developmental delay
• Hypertelorism
• Cleft palate
• Depressed nasal bridge

SOURCES: OMIM MENDELIAN

HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME Is also known as ostravik-lindemann-solberg syndrome

• Hypertelorism
• Cryptorchidism
• Abnormality of the skeletal system
• Syndactyly
• Patent ductus arteriosus

SOURCES: ORPHANET OMIM MESH MENDELIAN

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Ataxia
• Hypertelorism

SOURCES: ORPHANET OMIM MENDELIAN

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

• Hearing impairment
• Scoliosis
• Hypertelorism
• Sensorineural hearing impairment
• Cleft palate

SOURCES: OMIM ORPHANET MENDELIAN

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

• Intellectual disability
• Hypertelorism
• Muscular hypotonia
• Cryptorchidism
• Talipes equinovarus

SOURCES: OMIM MESH ORPHANET MENDELIAN