Downslanted palpebral fissures, and Camptodactyly

Medium match CRANIOFACIAL-DEAFNESS-HAND SYNDROME

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

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 ANTLEY-BIXLER SYNDROME

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

• Hypertelorism
• Strabismus
• Cleft palate
• Downslanted palpebral fissures
• Frontal bossing

SOURCES: ORPHANET MENDELIAN

Medium match FREEMAN-SHELDON SYNDROME

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

• Short stature
• Hearing impairment
• Scoliosis
• Growth delay
• Hypertelorism

SOURCES: ORPHANET 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 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

• Intellectual disability
• Seizures
• Global developmental delay
• Strabismus
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

Medium match MEESTER-LOEYS SYNDROME; MRLS

• Hypertelorism
• Abnormal facial shape
• Flexion contracture
• Macrocephaly
• Downslanted palpebral fissures

SOURCES: OMIM MENDELIAN

Medium match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

• Scoliosis
• Low-set ears
• Downslanted palpebral fissures
• Cardiomyopathy
• Congestive heart failure

SOURCES: OMIM MESH MENDELIAN

Medium match CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).

• Seizures
• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Micrognathia

SOURCES: OMIM MENDELIAN