Hypertelorism, and Abnormality of the eye

Low match TRIGONOCEPHALY 2; TRIGNO2

Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011).For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (OMIM ).A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see {158170}).

TRIGONOCEPHALY 2; TRIGNO2 Is also known as craniosynostosis, metopic

• Microcephaly
• Hypertelorism
• Craniosynostosis
• Trigonocephaly
• Metopic synostosis

SOURCES: OMIM MENDELIAN

Low match AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5

AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5 Is also known as agammaglobulinemia, autosomal dominant, due to lrrc8a defect

• Hypertelorism
• Low-set ears
• High palate
• Epicanthus
• Agammaglobulinemia

SOURCES: OMIM MENDELIAN

Low match DIAMOND-BLACKFAN ANEMIA 8; DBA8

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

• Short stature
• Growth delay
• Hypertelorism
• Anemia
• Wide nasal bridge

SOURCES: MESH OMIM MENDELIAN

Low match CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS

• Hypertelorism
• Hydrocephalus
• Encephalocele
• Abnormality of the outer ear
• Abnormal electroretinogram

SOURCES: OMIM MENDELIAN

Low match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4

Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

• Intellectual disability
• Global developmental delay
• Hypertelorism
• Abnormal facial shape
• Motor delay

SOURCES: OMIM MENDELIAN

Low match ROBINOW-SORAUF SYNDROME

ROBINOW-SORAUF SYNDROME Is also known as acrocephalosyndactyly, robinow-sorauf type|craniosynostosis-bifid hallux syndrome

• Hypertelorism
• Strabismus
• Malar flattening
• Flat face
• Plagiocephaly

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

• Hypertelorism
• Abnormal facial shape
• Depressed nasal bridge
• Wide nasal bridge
• Downslanted palpebral fissures

SOURCES: OMIM MENDELIAN

Low match BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

• Hypertelorism
• Abnormality of the kidney
• Short philtrum
• Bulbous nose
• Renal agenesis

SOURCES: OMIM MENDELIAN

Low match BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

• Hypertelorism
• Abnormal facial shape
• Hypothyroidism
• High forehead
• Cleft lip

SOURCES: OMIM MENDELIAN

Low match MENTAL RETARDATION, X-LINKED 19; MRX19

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

• Intellectual disability
• Short stature
• Generalized hypotonia
• Scoliosis
• Hypertelorism

SOURCES: OMIM MESH MENDELIAN