Patients show a distinctive facial appearance, a tall and prominent forehead, short stature, small prominente ears with simplified helical pattern, frontal hair upsweep, hypotonia and constipation. [scielo.mec.pt]

Short stature. Striking personalities. In males. X-linked inheritance. Opitz and Kaveggia defined the disease picture in 1974 and termed it FG syndrome for the initials of the first published family. X-linked recessively inherited condition. [whonamedit.com]

stature (see entry Restricted Growth ) seizures (see entry Epilepsy ) hearing loss (see entry Deafness ) hyperactivity and tantrums (see entry Attention Deficit Hyperactivity disorder ) friendly or out-going personality. [contact.org.uk]

stature due to endocrine disorder 2016 2017 2018 2019 Billable/Specific Code Applicable To Constitutional short stature Laron-type short stature Type 1 Excludes achondroplastic short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional [icd10data.com]

thumbs and halluces, abnormalities of the corpus callosum, intellectual disability, hypotonia, and characteristic behavior. [oxfordmedicine.com]

[…] imperforate anus or severe constipation reduced or lax muscle tone in childhood; increased tone in adulthood minor changes in appearance such as high broad forehead with upsweep of the hairline (cow's lick), wide-apart eyes, smallish external ears, broad [contact.org.uk]

The most characteristic musculoskeletal feature is broad thumbs and halluces. The thumbs are typically wide and flat. [ncbi.nlm.nih.gov]

Single transverse palmar creases and short hands and fingers have been less commonly observed in affected individuals [ Risheg et al 2007 ]. [ncbi.nlm.nih.gov]

transverse palmar creases, and hypotonia. [nature.com]

Constipation, feeding problems in infancy, and gastroesophageal reflux disease are commonly associated with FGS1. [ncbi.nlm.nih.gov]

A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present. [icd10data.com]

hands with broad thumbs, broad big toes, anal anomalies/constipation, hypotonia, variable mental retardation and behavioural disturbances. [ncbi.nlm.nih.gov]

Hearing impairment Sotos syndrome Hearing impairment Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment Wolfram syndrome (DIDMOAD) [genomediagnosticsnijmegen.nl]

Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. 0011220 Scoliosis Abnormal curving of the spine 0002650 Seizures Seizure 0001250 Sensorineural hearing impairment 0000407 Percent of people [rarediseases.info.nih.gov]

It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function. [icd10data.com]

PTEN Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS) PTEN related hamartoma syndrome, autism, focal cortical dysplasia 20301661 RAB39B X-linked intellectual disability and macrocephaly with autism 20159109 RIN2 MACS syndrome (macrocephaly, alopecia [web.labmed.washington.edu]

Skeletal Thanatofore dysplasia Skeletal Torg-Winchester syndrome Skeletal Trichodontoosseus syndrome Skeletal Van den Ende-Gupta syndrome Skeletal Wiedemann-Steiner syndrome Skeletal Acral peeling skin syndrome Skin Acrodermatitis enteropathica Skin Alopecia [genomediagnosticsnijmegen.nl]

[…] glomerulonephritis, type 3 Holoacardius Holoacardius acephalus Holoacardius acormus Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia [icd9data.com]

Nephrolithiasis, type I 310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 CLCN7 16p13.3 Osteopetrosis, autosomal dominant 2 166600 Osteopetrosis, autosomal recessive 4 611490 CLDN1 3q28 Ichthyosis, leukocyte vacuoles, alopecia [institutobernabeu.com]

Patients affected with this disease have disproportionate short stature, finger deformities, and dysmorphic facial features including sparse hair, a pyriform-shaped nose, and medially thick eyebrows. The epiphyses of the fingers are cone-shaped. [kundoc.com]

A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. [icd10data.com]

The clinical phenotype of NCBRS highly overlaps with that of CSS and is characterized by facial dysmorphisms, sparse hair, short stature, microcephaly, and intellectual disability [Van Houdt et al., 2012]. [karger.com]

Typical features are small, simple, prominent, cupped or low set ears, narrow external auditory canals, frontal upsweep of hair, dolicocephaly, tall forehead, flat broad thumbs, distally adherent nails and hypotonia. [ashg.org]

A frontal upsweep of hair was reported in the mother in Family 1, and constipation was noted in the mother in Family 9. [nature.com]

eyebrows Hypertelorism Strabismus Small ears Thick alae nasi Wide, low nasal bridge Broad nasal tip Micrognathia Small mouth Dental anomalies Hypotonia Family history consistent with X-linked inheritance Establishing the Diagnosis Male proband. [ncbi.nlm.nih.gov]

The room must be free of distractions and at a comfortable temperature for the students. [iaff.org]

Originally described as distinct syndromes, the G and BBB syndromes are now summarized as a single disorder characterized by hypertelorism, hypospadias. and other midline defects. [accessanesthesiology.mhmedical.com]

Also called G syndrome, hypertelorism-hypospadias syndrome. [medical-dictionary.thefreedictionary.com]

These cases occur in people with no history of the disorder in their family. hypertelorism-hypospadias sydrome hypertelorism with esophageal abnormalities and hypospadias hypospadias-dysphagia syndrome Opitz BBB syndrome Opitz BBB/G syndrome Opitz-Frias [ghr.nlm.nih.gov]

Tarquinio Marinho, Ruth Andia-Merlin Published in Special care in dentistry : official publication… 2017 DOI: 10.1111/scd.12200 Opitz G/BBB syndrome is a genetic condition characterized by several abnormalities along the midline of the body, such as hypertelorism [semanticscholar.org]

Diagnosis Symptoms Mental retardation usually severe; Hyperactive behavior, often with an outgoing personality; Severe constipation Seizures Physical Examination Appearance of the Patient Short stature Head Macrocephaly Prominent forehead Eyes Hypertelorism [wikidoc.org]

[…] locus 3 FG syndrome 5 Hemophilia B Hypophosphatemic rickets Jensen syndrome Keratosis follicularis spinulosa decalvans Lisch epithelial corneal dystrophy Lujan-Fryns syndrome Megalocornea 1 Mental retardation-skeletal dysplasia Mohr-Tranebjaerg syndrome Nephrolithiasis [news-medical.net]

Renal / Nephrological Meckel syndrome Renal / Nephrological Medullary Cystic Kidney disease Renal / Nephrological Nail Patella syndrome Renal / Nephrological Neonatal hyperparathyroidism Renal / Nephrological Nephrogenic syndrome Renal / Nephrological Nephrolithiasis [genomediagnosticsnijmegen.nl]

Multiple pterygium syndrome, lethal type 253290 Myasthenic syndrome, congenital, 3B, fast-channel CHRNG 2q37.1 Escobar syndrome 265000 Multiple pterygium syndrome, lethal type 253290 CLCN5 Xp11.23-p11.22 Dent disease 300009 Hypophosphatemic rickets 300554 Nephrolithiasis [institutobernabeu.com]

The previously defined behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with this mutation, along with socially oriented, attention-seeking behaviors. [ncbi.nlm.nih.gov]

[…] and tantrums (see entry Attention Deficit Hyperactivity disorder ) friendly or out-going personality. [contact.org.uk]

They frequently present mental retardation with developmental delay and a distinctive behaviour, with hyperactive personality and excessive talkativeness. FGS is characterized by clinical variability and genetic heterogeneity. [scielo.mec.pt]

The previously defined behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with this mutation, along with socially oriented, attention-seeking behaviors. [ncbi.nlm.nih.gov]

They frequently present mental retardation with developmental delay and a distinctive behaviour, with hyperactive personality and excessive talkativeness. FGS is characterized by clinical variability and genetic heterogeneity. [scielo.mec.pt]