Features of this condition include Short trunk Poor growth Hydrocephalus Multiple fractures Craniofacial abnormalities Multisutural craniosynostosis Ocular proptosis Marked frontal bossing Midface hypoplasia Micrognathia Genetics[edit] There are three [en.wikipedia.org]

pitched voice; Hydrocephalus; Microdontia; Micrognathia; Midface retrusion; Orbital craniosynostosis; Osteopenia; Recurrent fractures; Scoliosis; Shallow orbits; Short stature; Vertebral compression fractures Associated Genes P4HB (Withdrawn symbols: [mousephenotype.org]

Normal neurologic development has been reported, but abnormal crying (high-pitched voice), and gait and generalized hypotonia are common. Hydrops fetalis has been described in one case. [accessanesthesiology.mhmedical.com]

The signs and symptoms of Cole Carpenter Syndrome may include: Coronal craniosynostosis High pitched voice Microdontia Orbital craniosynostosis Osteopenia Shallow orbits Vertebral compression fractures Very frequently present symptoms in 80-99% of the [dovemed.com]

pitched voice 0001620 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Microdontia Decreased width of tooth 0000691 Orbital craniosynostosis 0005472 Osteopenia 0000938 Shallow orbits Decreased depth of eye sockets Shallow eye sockets [ [rarediseases.info.nih.gov]

Case Report A five and half year old boy presented with failure to thrive and multiple deformities of his limbs. He was the second child of non-consanguineous parents born of an uncomplicated pregnancy at term. [ispub.com]

OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 Is also known as oi, type vii, osteogenesis imperfecta, type iib, formerly;oi2b, formerly Related symptoms: Autosomal recessive inheritance Short stature Hearing impairment Scoliosis Failure to thrive SOURCES: GARD [mendelian.co]

The dietician provides advice on the size and frequency of feeds to ensure that slow growth is not mistaken as a failure to thrive. [dovepress.com]

PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES Classification bone, developmental, eye, genetic Phenotypes Autosomal dominant inheritance; Communicating hydrocephalus; Coronal craniosynostosis; Frontal bossing; High pitched voice; Hydrocephalus; Microdontia [mousephenotype.org]

The signs and symptoms of Cole Carpenter Syndrome may include: Coronal craniosynostosis High pitched voice Microdontia Orbital craniosynostosis Osteopenia Shallow orbits Vertebral compression fractures Very frequently present symptoms in 80-99% of the [dovemed.com]

[…] motion 0005692 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Coronal craniosynostosis 0004440 High pitched voice 0001620 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Microdontia [rarediseases.info.nih.gov]

A receding chin has been noted and the hard palate is highly vaulted. The midface is flat. Genetics This disorder results from compound heterozygous mutations in the SEC24D gene (4q26). Only a few patients have been reported. [disorders.eyes.arizona.edu]

teeth with hypoplastic enamel). [accessanesthesiology.mhmedical.com]

Several genes have now been implicated in autosomal recessive forms of OI and X-linked osteoporosis. [books.google.com]

[1] Osteoporosis that affects young and otherwise healthy individuals is operationally defined as “idiopathic” osteoporosis (IOP). [journals.lww.com]

The panel diagnostics request form (German) for osteogenesis imperfecta and osteoporosis is available here. [humangenetik.uk-koeln.de]

The triad of bilateral neck femur fractures, active rickets and osteoporosis are extremely rare. [ispub.com]

Osteoporosis XL Osteoporosis X-linked Osteoporosis with Fractures OI XL X-linked Osteogenesis Imperfecta Osteopaenia Osteopaenia Skeletal dysplasia Skeletal dysplasia OI I Osteogenesis Imperfecta Type I OI IA Osteogenesis Imperfecta Type IA OI IB Osteogenesis [oi.gene.le.ac.uk]

[…] of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).Visit the Orphanet disease page for [malacards.org]

[…] of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). [orpha.net]

[…] of the long bones) and blue sclera Additionally, the association of growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia) may be noted (Source: [dovemed.com]

[…] of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Crumpled long bones 0006367 Delayed eruption of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [rarediseases.info.nih.gov]

[…] body height Small stature [ more ] 0004322 Skeletal dysplasia 0002652 30%-79% of people have these symptoms Abnormality of dental enamel Abnormal tooth enamel Enamel abnormalities Enamel abnormality [ more ] 0000682 Communicating hydrocephalus 0001334 [rarediseases.info.nih.gov]

We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia [ncbi.nlm.nih.gov]

bossing, midface hypoplasia, and micrognathia ). [malacards.org]

Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant. [uniprot.org]

BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES Classification bone, developmental, eye, genetic Phenotypes Autosomal dominant inheritance; Communicating hydrocephalus; Coronal craniosynostosis; Frontal [mousephenotype.org]

Patients must be followed for the development of communicating hydrocephalus. Long bone fractures require prompt treatment. [disorders.eyes.arizona.edu]

Human genes for Cole-Carpenter syndrome Cole-Carpenter syndrome [DOID:0060438] An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance [diseases.jensenlab.org]

Name Cole-Carpenter Syndrome 1 Synonyms BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES Classification bone, developmental, eye, genetic Phenotypes Autosomal dominant inheritance; Communicating hydrocephalus [mousephenotype.org]

Affiliated tissues include bone and eye, and related phenotypes are turricephaly and micrognathia Disease Ontology : 12 An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth [malacards.org]