Downslanted palpebral fissures, and Syndactyly

Medium match OTOFACIOCERVICAL SYNDROME 2; OTFCS2

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

OTOFACIOCERVICAL SYNDROME 2; OTFCS2 Is also known as ofc2

• Intellectual disability
• Hearing impairment
• Low-set ears
• Downslanted palpebral fissures
• Abnormality of the skeletal system

SOURCES: OMIM MENDELIAN

Medium match AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME

Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant

• Short stature
• Scoliosis
• Cleft palate
• Ptosis
• Flexion contracture

SOURCES: MESH ORPHANET OMIM MENDELIAN

Medium match WAARDENBURG SYNDROME TYPE 3

Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome|waardenburg syndrome with limb anomalies|waardenburg syndrome type iii|ws3

• Intellectual disability
• Hearing impairment
• Microcephaly
• Downslanted palpebral fissures
• Atrial septal defect

SOURCES: ORPHANET MENDELIAN

Medium match 2Q24 MICRODELETION SYNDROME

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

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

SOURCES: ORPHANET MESH MENDELIAN

Medium match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

• Short stature
• Microcephaly
• Scoliosis
• Hypertelorism
• Muscular hypotonia

SOURCES: ORPHANET MENDELIAN

Medium match BARDET-BIEDL SYNDROME

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

• Intellectual disability
• Short stature
• Hearing impairment
• Nystagmus
• Cryptorchidism

SOURCES: ORPHANET MENDELIAN

Medium match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

• Global developmental delay
• Short stature
• Failure to thrive
• Micrognathia
• Cataract

SOURCES: OMIM MESH MENDELIAN

Medium match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

• Intellectual disability
• Global developmental delay
• Scoliosis
• Hypertelorism
• Micrognathia

SOURCES: ORPHANET MENDELIAN

Medium match ZLOTOGORA-OGUR SYNDROME

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

• Intellectual disability
• Seizures
• Micrognathia
• Cleft palate
• Wide nasal bridge

SOURCES: ORPHANET OMIM MENDELIAN

Medium match ROSSELLI-GULIENETTI SYNDROME

• Intellectual disability
• Seizures
• Global developmental delay
• Micrognathia
• Cleft palate

SOURCES: OMIM MENDELIAN