Depressed nasal bridge, and Flat face

High match HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

• Intellectual disability
• Seizures
• Hearing impairment
• Microcephaly
• Growth delay

SOURCES: OMIM MENDELIAN

High 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

High match THANATOPHORIC DYSPLASIA TYPE 1

Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

• Seizures
• Hearing impairment
• Muscular hypotonia
• Depressed nasal bridge
• Brachydactyly

SOURCES: ORPHANET MENDELIAN

High match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

• Intellectual disability
• Short stature
• Growth delay
• Hypertelorism
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

High match APERT SYNDROME

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

• Intellectual disability
• Hypertelorism
• Strabismus
• Sensorineural hearing impairment
• Cleft palate

SOURCES: ORPHANET MENDELIAN

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

• Intellectual disability
• Global developmental delay
• Short stature
• Hypertelorism
• Failure to thrive

SOURCES: ORPHANET OMIM MENDELIAN

High match AYME-GRIPP SYNDROME; AYGRP

Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Hearing impairment

SOURCES: OMIM MENDELIAN

High match THANATOPHORIC DYSPLASIA TYPE 2

Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

• Seizures
• Short stature
• Hearing impairment
• Muscular hypotonia
• Cognitive impairment

SOURCES: OMIM ORPHANET MENDELIAN

High match EVEN-PLUS SYNDROME

EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Growth delay

SOURCES: ORPHANET OMIM MENDELIAN

High match ACHONDROGENESIS, TYPE IA; ACG1A

The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (OMIM ), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of AchondrogenesisAchondrogenesis type IB (ACG1B ) is caused by mutation in the DTDST gene (OMIM ), and achondrogenesis type II (ACG2 ) is caused by mutation in the COL2A1 gene (OMIM ).

ACHONDROGENESIS, TYPE IA; ACG1A Is also known as achondrogenesis, houston-harris type

• Micrognathia
• Cleft palate
• Depressed nasal bridge
• Macrocephaly
• Frontal bossing

SOURCES: OMIM MENDELIAN