Global developmental delay, and Craniosynostosis

Diseases related with Global developmental delay and Craniosynostosis

In the following list you will find some of the most common rare diseases related to Global developmental delay and Craniosynostosis that can help you solving undiagnosed cases.

Top matches:

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

Related symptoms:

  • Delayed speech and language development
  • Craniosynostosis


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 7; CRS7

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 ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO; CRS5

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

Other less relevant matches:

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 ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

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 ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 3; CRS3

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

Related symptoms:

  • Scoliosis
  • Ptosis
  • Epicanthus
  • Macrotia
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

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.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

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

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Craniosynostosis

Symptoms // Phenotype % cases
Microcephaly Uncommon - Between 30% and 50% cases
Agenesis of corpus callosum Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Craniosynostosis. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Generalized hypotonia Strabismus Pneumonia Delayed speech and language development Plagiocephaly Anterior plagiocephaly Bilateral sensorineural hearing impairment High palate Partial agenesis of the corpus callosum Short stature Low anterior hairline Sensorineural hearing impairment Macrocephaly Increased intracranial pressure High forehead Brachycephaly Hearing impairment Hypertelorism Seizures Sloping forehead Downslanted palpebral fissures Abnormality of the palpebral fissures Wide nasal bridge Metaphyseal sclerosis Restrictive cardiomyopathy Cortical gyral simplification Mild short stature Absent speech Prominent nose Cardiomyopathy Round face Short foot Growth delay Small hand Micrognathia Severe short stature Cerebellar hypoplasia Clinodactyly Abnormal facial shape Spasticity Intrauterine growth retardation Frontal bossing Stereotypy Clinodactyly of the 5th finger Pectus excavatum Abnormality of lower limb joint Increased vertebral height Osteochondroma Camptodactyly of toe Ectopia lentis Joint contracture of the hand Tall stature Interphalangeal joint contracture of finger High myopia Arachnodactyly Camptodactyly of finger Camptodactyly Myopia Prominent forehead Cataract Scaphocephaly Microretrognathia Finger clinodactyly Recurrent pneumonia Deep-set nails Broad nasal tip Aggressive behavior Anxiety Hepatosplenomegaly Retrognathia Mandibular prognathia Abnormality of the hairline Dolichocephaly Abdominal wall muscle weakness Dandy-Walker malformation Hallux valgus Abnormality of the outer ear Dental malocclusion Single transverse palmar crease Autism Syndactyly Brachydactyly Turricephaly Delayed cranial suture closure Spina bifida occulta Spina bifida Cerebellar atrophy Motor delay Ventriculomegaly Muscular hypotonia Broad jaw Mild global developmental delay Thickened calvaria Increased bone mineral density Broad forehead Facial palsy Headache Optic atrophy Visual impairment Abnormality of the head Nystagmus Delayed skeletal maturation Moderate global developmental delay Tiger tail banding Deep palmar crease Hemihypertrophy Hyperinsulinemic hypoglycemia Fragile nails Multiple renal cysts Neonatal hypoglycemia Large for gestational age Overgrowth Vesicoureteral reflux Umbilical hernia Macrotia Epicanthus Mild intrauterine growth retardation Pes cavus Long-tract signs Slow-growing hair Coronal craniosynostosis Brittle hair Coxa valga Broad-based gait Esotropia Microcornea Ichthyosis Dry skin Small for gestational age Intellectual disability, moderate Broad femoral metaphyses


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