Hearing impairment, and Midface retrusion

Medium match ISOLATED PLAGIOCEPHALY

Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis|synostotic plagiocephaly

• Intellectual disability
• Global developmental delay
• Hearing impairment
• Strabismus
• Macrocephaly

SOURCES: ORPHANET MENDELIAN

Medium match ISOLATED BRACHYCEPHALY

Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.

ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis

• Intellectual disability
• Hearing impairment
• Hypertelorism
• Brachydactyly
• Midface retrusion

SOURCES: ORPHANET MENDELIAN

Medium match DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14

• Hearing impairment
• Micrognathia
• Cleft palate
• Cryptorchidism
• Anemia

SOURCES: OMIM MENDELIAN

Medium match FIBROCHONDROGENESIS 2; FBCG2

Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (OMIM ).

• Hearing impairment
• Micrognathia
• Myopia
• Macrocephaly
• Anteverted nares

SOURCES: OMIM MENDELIAN

Medium match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

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

SOURCES: OMIM MENDELIAN

Medium match PFEIFFER SYNDROME TYPE 1

Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

PFEIFFER SYNDROME TYPE 1 Is also known as classic pfeiffer syndrome

• Hearing impairment
• Hypertelorism
• Low-set ears
• High palate
• Depressed nasal bridge

SOURCES: ORPHANET MENDELIAN

Medium match AUTOSOMAL DOMINANT MYOPIA-MIDFACIAL RETRUSION-SENSORINEURAL HEARING LOSS-RHIZOMELIC DYSPLASIA SYNDROME

• Micrognathia
• Sensorineural hearing impairment
• Cleft palate
• Brachydactyly
• Frontal bossing

SOURCES: ORPHANET MENDELIAN

Medium match OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

• Short stature
• Hearing impairment
• Scoliosis
• Micrognathia
• Sensorineural hearing impairment

SOURCES: OMIM MENDELIAN

Medium match SCLEROSTEOSIS 2; SOST2

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

• Hearing impairment
• Hypertelorism
• Macrocephaly
• Gait disturbance
• Frontal bossing

SOURCES: OMIM MENDELIAN

Medium match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

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

SOURCES: ORPHANET OMIM MENDELIAN