Delayed speech and language development, and Craniosynostosis

High match CRANIOSYNOSTOSIS 7; CRS7

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).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

CRANIOSYNOSTOSIS 7; CRS7 Is also known as craniosynostosis 7, digenic, crs7, digenic

• Autosomal dominant inheritance
• Global developmental delay
• Delayed speech and language development
• Craniosynostosis
• Neurodevelopmental delay

SOURCES: MONDO UMLS OMIM

Low 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

Low match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: OMIM MONDO UMLS

Low match SWEENEY-COX SYNDROME; SWCOS

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

• Global developmental delay
• Hearing impairment
• Hypertelorism
• Micrognathia
• Ptosis

SOURCES: OMIM

Low match RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA

RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa;

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Micrognathia

SOURCES: MONDO MESH OMIM ORPHANET UMLS

Low match GABRIELE-DE VRIES SYNDROME; GADEVS

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME; GADEVS Is also known as ;yy1 haploinsufficiency syndrome

• Intellectual disability
• Global developmental delay
• Growth delay
• Micrognathia
• Strabismus

SOURCES: OMIM UMLS MONDO ORPHANET

Low match MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP

MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP Is also known as polymicrogyria with seizures;pmgys;

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Short stature
• Pica

SOURCES: MONDO OMIM GARD ORPHANET

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis;

• Autosomal recessive inheritance
• Intellectual disability
• Short stature
• Generalized hypotonia
• Microcephaly

SOURCES: ORPHANET UMLS OMIM MONDO

Low match OSTEOGLOPHONIC DYSPLASIA; OGD

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOPHONIC DYSPLASIA; OGD Is also known as osteoglophonic dwarfism;osteoglophonic dwarfism

• Autosomal dominant inheritance
• Intellectual disability
• Pica
• Scoliosis
• Hypertelorism

SOURCES: OMIM SCTID GARD UMLS MONDO ORPHANET MESH

Low match GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated with pre- and postaxial polydactyly and variable syndactyly. The phenotype shows variable expressivity and can also include craniosynostosis. Affected individuals usually have normal psychomotor development (summary by Gorlin et al., 2001).

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS Is also known as polysyndactyly with peculiar skull shape;gcps

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

SOURCES: NCIT ORPHANET UMLS OMIM DOID MONDO MESH GARD SCTID