Global developmental delay, and Craniosynostosis

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 crs7, digenic|craniosynostosis 7, digenic

• Delayed speech and language development
• Craniosynostosis

SOURCES: OMIM MENDELIAN

Premature fusion of the various sutures in the human neurocranium (skull vault and base) is defined as craniosynostosis (CRS). Clinical consequences include abnormal head shape and increased intracranial pressure, which may result in neurologic symptoms, developmental delay, and hearing or vision problems. Approximately 80% of cases are classified as nonsyndromic craniosynostosis and present as isolated suture fusion with no other associated anomalies. Sagittal suture fusion is the most common form of isolated craniosynostosis, accounting for 40 to 58% of all isolated cases (summary by Yagnik et al., 2012).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

• Global developmental delay
• Craniosynostosis
• Increased intracranial pressure
• Abnormality of the head

SOURCES: OMIM MENDELIAN

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).

• Hearing impairment
• Hypertelorism
• Visual impairment
• Macrocephaly
• Optic atrophy

SOURCES: ORPHANET MENDELIAN

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-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

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

SOURCES: OMIM MENDELIAN

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-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013).For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

• Global developmental delay
• Strabismus
• Ptosis
• Brachydactyly
• Syndactyly

SOURCES: OMIM MENDELIAN

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

SOURCES: OMIM MENDELIAN

• Scoliosis
• Ptosis
• Epicanthus
• Macrotia
• Umbilical hernia

SOURCES: ORPHANET MENDELIAN

• Seizures
• Global developmental delay
• Short stature
• Microcephaly
• Growth delay

SOURCES: OMIM MENDELIAN

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• High palate

SOURCES: ORPHANET OMIM MENDELIAN

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

• Intellectual disability
• Global developmental delay
• Hearing impairment
• Microcephaly
• Scoliosis

SOURCES: ORPHANET MESH OMIM MENDELIAN