Delayed speech and language development, and Retrognathia

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as intellectual developmental disorder with hereditary persistence of fetal hemoglobin

• Autosomal dominant inheritance
• Intellectual disability
• Global developmental delay
• Microcephaly
• Strabismus

SOURCES: MONDO OMIM UMLS

Medium match MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES

Mental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013).

MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Is also known as ;

• Autosomal dominant inheritance
• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Pica

SOURCES: GARD MONDO UMLS ORPHANET OMIM

Medium match CRANIOSYNOSTOSIS 4; CRS4

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms.For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

• Autosomal dominant inheritance
• Hypertelorism
• Ptosis
• Depressed nasal bridge
• Delayed speech and language development

SOURCES: MONDO UMLS OMIM

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P

(13q14.3).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P Is also known as ;cdg syndrome type ip; cdg-ip; cdg1p; carbohydrate deficient glycoprotein syndrome type ip; congenital disorder of glycosylation type 1p; congenital disorder of glycosylation type ip

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: UMLS OMIM SCTID MONDO ORPHANET GARD

Medium match OROFACIODIGITAL SYNDROME XIV; OFD14

mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

OROFACIODIGITAL SYNDROME XIV; OFD14 Is also known as ;microcephaly-cerebral malformation-orofaciodigital syndrome; ofd14; oral-facial-digital syndrome type 14

• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Cleft palate
• Abnormal facial shape

SOURCES: ORPHANET MONDO UMLS OMIM

Medium match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Intellectual disability
• Generalized hypotonia
• Micrognathia

SOURCES: MONDO GARD OMIM UMLS

Medium match STANKIEWICZ-ISIDOR SYNDROME; STISS

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Hypertelorism

SOURCES: UMLS OMIM

Medium match GABA-TRANSAMINASE DEFICIENCY

GABA-transaminase deficiency is characterized by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. Electroencephalograms show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most patients have profound developmental impairment and some patients die in infancy (summary by Koenig et al., 2017).

GABA-TRANSAMINASE DEFICIENCY Is also known as ;gaba transaminase deficiency

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Motor delay

SOURCES: DOID SCTID OMIM GARD ORPHANET MONDO MESH UMLS

Medium match CK SYNDROME

CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. It is named after the first identified patient (summary by McLarren et al., 2010).CHILD syndrome (OMIM ) is an allelic disorder with a different phenotype.

CK SYNDROME Is also known as mental retardation, x-linked, with thin body habitus and cortical malformation;x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

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

SOURCES: OMIM UMLS ORPHANET MONDO

Medium match 6Q16 DELETION SYNDROME

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to deletion 6q16

• Global developmental delay
• Short stature
• Microcephaly
• Hypertelorism
• Nystagmus

SOURCES: ORPHANET