Name: Osteopenia, intellectual disability, sparse hair syndrome (disorder) See more descriptions. - Osteopenia, intellectual disability, sparse hair syndrome (disorder) - Kaler Garrity Stern syndrome - Osteopenia, intellectual disability, sparse hair [snomedbrowser.com]

[…] hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. [orpha.net]

Code System Concept Code System Concept Code 732954002 Code System Concept Name Osteopenia, intellectual disability, sparse hair syndrome (disorder) Code System Preferred Concept Name Osteopenia, intellectual disability, sparse hair syndrome (disorder [phinvads.cdc.gov]

Affiliated tissues include bone, and related phenotypes are osteopenia and intellectual disability [malacards.org]

Craniofacial dysmorphism with macrocephaly, hypertelorism, frontal bossing, bulbous nose, depressed premaxillary region, prognathism, and low-set ears. Moderate-to-severe mental retardation. [accessanesthesiology.mhmedical.com]

Significant clinical features of this presumed disorder are hypotonia with joint laxity, sparse hair mental retardation, growth, and motor delay, skeletal fragility, and dysmorphic facial features including mandibular prognathism, frontal bossing and [wohproject.org]

Facial Abnormalities, Micromelia, and Mental Retardation Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance Microcephaly, Macrotia, and Mental Retardation Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism [rgd.mcw.edu]

Craniofacial dysmorphism with macrocephaly, hypertelorism, frontal bossing, bulbous nose, depressed premaxillary region, prognathism, and low-set ears. Moderate-to-severe mental retardation. [accessanesthesiology.mhmedical.com]

ears Low set ears Lowset ears [ more ] 0000369 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Midface retrusion Decreased size of midface [rarediseases.info.nih.gov]

Name: Osteopenia, intellectual disability, sparse hair syndrome (disorder) See more descriptions. - Osteopenia, intellectual disability, sparse hair syndrome (disorder) - Kaler Garrity Stern syndrome - Osteopenia, intellectual disability, sparse hair [snomedbrowser.com]

[…] hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. [orpha.net]

Osteopenia-Mental Retardation-Sparse Hair Syndrome. Only two cases described, so far. Autosomal recessive inheritance. [accessanesthesiology.mhmedical.com]

Main New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters No image available Stephen G. Kaler; Ann M. Garrity; Harvey J. Stern; Kenneth N. Rosenbaum; Bonnie M. Orrison; Joan C. [booksc.usunblock.world]

Overview Kaler Garrity Stern syndrome is a very rare syndrome characterized by sparse hair, osteopenia, mental retardation, minor facial abnormalities, joint laxity and hypotonia. [checkorphan.org]

The patients bones will also be observed to check for deformation or for fractures. Prognosis - Kaler Garrity Stern syndrome Unknown. Treatment - Kaler Garrity Stern syndrome Unknown. [checkorphan.org]

Careful positioning is mandatory to avoid fractures. Mental retardation may result in decreased patient cooperation and sedative and/or anxiolytic premedication and the presence of the primary caregiver for induction of anesthesia may be helpful. [accessanesthesiology.mhmedical.com]

Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures [ more ] 0002757 Relative macrocephaly Relatively large head 0004482 Sparse scalp hair Scalp hair, thinning Sparse, thin [rarediseases.info.nih.gov]

Long bones were fragile with one sib suffering two leg fractures following minimal trauma. Significant growth and mental retardation with motor delay were also features. [wohproject.org]

Orthopaedic and Spine Institute San Antonio Texas Center for Athletes 21 Spurs Lane Total Hip Replacement MIS 2-incision Anterior Anatomy of the Hip; Degenerative Joint Disease (Osteoarthritis of the Hip) Femoral Fractures; Femoral-Acetabular Impingement [italianbiocatalysis.eu]

Craniofacial dysmorphism with macrocephaly, hypertelorism, frontal bossing, bulbous nose, depressed premaxillary region, prognathism, and low-set ears. Moderate-to-severe mental retardation. [accessanesthesiology.mhmedical.com]

[…] delay syndrome 9 Cases 210548 Macrocephaly-intellectual disability-autism syndrome 40 Cases 457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 6 Cases 2427 Macrocephaly-short stature- paraplegia syndrome 2 Cases [azkurs.org]

[…] cutis marmorata telangiectatica Macrocephaly dominant type Macrocephaly mental retardation facial dysmorphism Macrocephaly mesodermal hamartoma spectrum Macrocephaly mesomelic arms talipes Macrocephaly pigmentation large hands feet Macrocephaly short [sosu.us]

"[A syndrome of osteogenesis imperfecta, macrocephaly, wormian bones, frontal bossing, brachytelephalangy, hyperextensible joints, congenital blindness and oligophrenia in 3 sibs (author's transl)]". [wikidoc.org]

Osteopenia 0000938 Postnatal growth retardation Growth delay as children 0008897 Recurrent fractures Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures [ more ] 0002757 Relative macrocephaly [rarediseases.info.nih.gov]

Musculoskeletal abnormalities include hyperextensible joints, osteoporosis and osteosclerosis, and syndactyly of toes. Craniofacial abnormalities require careful assessment of the airway for difficult face-mask ventilation or laryngoscopy. [accessanesthesiology.mhmedical.com]

"[A syndrome of osteogenesis imperfecta, macrocephaly, wormian bones, frontal bossing, brachytelephalangy, hyperextensible joints, congenital blindness and oligophrenia in 3 sibs (author's transl)]". [wikidoc.org]

Name: Osteopenia, intellectual disability, sparse hair syndrome (disorder) See more descriptions. - Osteopenia, intellectual disability, sparse hair syndrome (disorder) - Kaler Garrity Stern syndrome - Osteopenia, intellectual disability, sparse hair [snomedbrowser.com]

Homepage Rare diseases Search Search for a rare disease Osteopenia-intellectual disability-sparse hair syndrome Disease definition Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse [orpha.net]

Osteopenia-Mental Retardation-Sparse Hair Syndrome. Only two cases described, so far. Autosomal recessive inheritance. [accessanesthesiology.mhmedical.com]

Main New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters No image available Stephen G. Kaler; Ann M. Garrity; Harvey J. Stern; Kenneth N. Rosenbaum; Bonnie M. Orrison; Joan C. [booksc.usunblock.world]

Overview Kaler Garrity Stern syndrome is a very rare syndrome characterized by sparse hair, osteopenia, mental retardation, minor facial abnormalities, joint laxity and hypotonia. [checkorphan.org]

Contractures Dwarfism Mental Retardation Alopecia Epilepsy Oligophrenia Syndrome of Moynahan Alopecia, Epilepsy, Pyorrhea, Mental Subnormality Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental [rgd.mcw.edu]

Flavimonas oryzihabitans Flesh eating bacteria Floaters Floating limb syndrome Floating-Harbor syndrome Florid cystic endosalpingiosis of the uterus Flotch syndrome Fluorosis[disambiguation needed] Flynn–Aird syndrome Fo Focal agyria pachygyria Focal alopecia [sosu.us]

P * 52417 MALT lymphoma 0.3 I * 238744 Mammary-digital-nail syndrome 11 Cases 397941 MAN1B1-CDG 25 Cases 363649 Mandibular hypoplasia- deafness-progeroid syndrome 4 Cases 2457 Mandibuloacral dysplasia 40 Cases 443995 Mandibulofacial dysostosis with alopecia [azkurs.org]

Craniofacial dysmorphism with macrocephaly, hypertelorism, frontal bossing, bulbous nose, depressed premaxillary region, prognathism, and low-set ears. Moderate-to-severe mental retardation. [accessanesthesiology.mhmedical.com]

Clinical Characteristics General description (for patients): Thin bones, sparse hair and an unusual facies with frontal bossing and a prominent jaw have been described in a single family with 2 sisters affected. [wohproject.org]

bossing 0002007 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Osteopenia 0000938 [rarediseases.info.nih.gov]

"[A syndrome of osteogenesis imperfecta, macrocephaly, wormian bones, frontal bossing, brachytelephalangy, hyperextensible joints, congenital blindness and oligophrenia in 3 sibs (author's transl)]". [wikidoc.org]

Craniofacial dysmorphism with macrocephaly, hypertelorism, frontal bossing, bulbous nose, depressed premaxillary region, prognathism, and low-set ears. Moderate-to-severe mental retardation. [accessanesthesiology.mhmedical.com]

[…] and language difficulties Speech delay [ more ] 0000750 Fine hair Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ] 0002213 Frontal bossing 0002007 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hypertelorism [rarediseases.info.nih.gov]

[…] and tetralogy of Fallot Hypertelorism hypospadias syndrome Hypertension Hypertensive hyperkalemia, familial Hypertensive hypokalemia familial Hypertensive retinopathy Hyperthermia induced defects Hyperthermia Hyperthyroidism Hyperthyroidism due to mutations [sosu.us]

microtia, facial clefting syndrome Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features Hypogonadism with Low-Grade Mental [rgd.mcw.edu]

Craniofacial dysmorphism with macrocephaly, hypertelorism, frontal bossing, bulbous nose, depressed premaxillary region, prognathism, and low-set ears. Moderate-to-severe mental retardation. [accessanesthesiology.mhmedical.com]

nose 0000414 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 High-frequency sensorineural hearing impairment 0001757 Low-set ears Low set ears Lowset ears [ more ] 0000369 Mandibular prognathia Big lower [rarediseases.info.nih.gov]

nose Mental retardation epilepsy Mental retardation gynecomastia obesity X linked Mental retardation hip luxation G6PD variant Mental retardation hypocupremia hypobetalipoproteinemia Mental retardation hypotonia skin hyperpigmentation Mental retardation [sosu.us]