Delayed speech and language development, and Ectodermal dysplasia

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Delayed speech and language development

SOURCES: MONDO UMLS DOID OMIM

Medium match SHAHEEN SYNDROME; SHNS

Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013).

SHAHEEN SYNDROME; SHNS Is also known as ;shaheen syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Delayed speech and language development
• Fever

SOURCES: ORPHANET OMIM MONDO UMLS

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: DOID MONDO OMIM

Medium match SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

• Autosomal recessive inheritance
• Short stature
• Cryptorchidism
• Delayed speech and language development
• Brachydactyly

SOURCES: MONDO UMLS OMIM DOID

Medium match CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

• Autosomal dominant inheritance
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Scoliosis

SOURCES: OMIM MONDO UMLS

Medium match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

• Autosomal dominant inheritance
• Growth delay
• Failure to thrive
• Delayed speech and language development
• Tics

SOURCES: MESH MONDO OMIM UMLS

Low match GLASS SYNDROME; GLASS

Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014).

GLASS SYNDROME; GLASS Is also known as chromosome 2q32-q33 deletion syndrome;2q32-q33 microdeletion syndrome; del(2)(q32); del(2)(q32q33); monosomy 2q32; monosomy 2q32-q33; monosomy 2q32q33

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: OMIM ORPHANET GARD DOID UMLS MONDO SCTID MESH

Low match TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2

Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 Is also known as langer-giedion syndrome;lgs, chromosome 8q24.1 deletion syndrome;deletion 8q24.1; langer-giedion syndrome; monosomy 8q24.1

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Short stature
• Generalized hypotonia

SOURCES: ORPHANET MONDO UMLS OMIM GARD MESH DOID NCIT SCTID

Low match GENITOPATELLAR SYNDROME; GTPTS

Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies (summary by Penttinen et al., 2009).The SBBYS variant of Ohdo syndrome (OMIM ) is an allelic disorder with overlapping features.

GENITOPATELLAR SYNDROME; GTPTS Is also known as absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation;absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay

SOURCES: MESH UMLS MONDO SCTID GARD ORPHANET OMIM

Low match FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as setleis syndrome, bitemporal forceps marks syndrome, facial ectodermal dysplasia, focal facial dermal dysplasia, type ii, formerly

• Autosomal recessive inheritance
• Global developmental delay
• Depressed nasal bridge
• Tics
• Anal atresia

SOURCES: OMIM