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Osteoglophonic dysplasia(OGD)

MedGen UID:
96592
Concept ID:
C0432283
Congenital Abnormality
Synonyms: Fairbank-Keats syndrome; OGD; Osteoglophonic dwarfism
SNOMED CT: Osteoglophonic dysplasia (254144002); Osteoglophonic dwarfism (254144002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FGFR1 (8p11.23)
 
Monarch Initiative: MONDO:0008150
OMIM®: 166250
Orphanet: ORPHA2645

Definition

Osteoglophonic dysplasia (OGD) is characterized by rhizomelic dwarfism, nonossifying bone lesions, craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge (summary by White et al., 2005). [from OMIM]

Additional description

From MedlinePlus Genetics
Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, short stature, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed-out (-glophonic) areas that appear as lesions or holes on x-ray images. These lesions typically affect the long bones of the arms and legs.

In people with osteoglophonic dysplasia, bones in the skull often fuse together too early (craniosynostosis). The craniosynostosis seen in people with this disorder may give the head a flat appearance or a "cloverleaf" shape, depending on which bones fuse first. Characteristic facial features in people with osteoglophonic dysplasia include a prominent forehead, widely spaced eyes (hypertelorism) that are prominent (proptosis), low-set ears, a flattening of the bridge of the nose and  the middle of the face (midface hypoplasia), a protruding jaw (prognathism), a high arch in the roof of the mouth (a high-arched palate), and a short neck. People with this condition usually have no visible teeth because the teeth never emerge from the jaw (clinical anodontia). In addition, the gums are often overgrown (hypertrophic gingiva).

Most people with osteoglophonic dysplasia have hollowed lesions in the long bones. These lesions are likely non-ossifying fibromas, which are benign (noncancerous) bone tumors made up of fibrous tissue that does not harden into bone. The lesions appear early in life and gradually increase in size and number during childhood. Later in life, the lesions may get smaller or go away once the bones have stopped growing. Individuals with osteoglophonic dysplasia can also have short, bowed legs and arms. They also have flat feet; overlapping toes; and short, broad hands and fingers.

Infants with osteoglophonic dysplasia often experience failure to thrive, which means they do not gain weight and grow at the expected rate. Affected individuals can experience episodes of increased body temperature and excessive sweating.

Some people with osteoglophonic dysplasia develop pyloric stenosis, which is a narrowing of the opening from the stomach into the small intestines. Others can develop inguinal hernia, in which the contents of the abdomen causes a soft out-pouching through the lower abdominal wall.

The life expectancy of people with osteoglophonic dysplasia depends on the extent of the craniofacial abnormalities. People with abnormalities that obstruct the air passages and affect the mouth and teeth may have respiratory problems and difficulty eating and drinking. Despite the skull abnormalities, intelligence is generally not affected in people with this disorder, but speech delays can occur.  https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Chordee
MedGen UID:
66363
Concept ID:
C0221182
Congenital Abnormality
Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Limb undergrowth
MedGen UID:
116086
Concept ID:
C0239399
Finding
Limb shortening because of underdevelopment of one or more bones of the extremities.
Broad palm
MedGen UID:
75535
Concept ID:
C0264142
Congenital Abnormality
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
Short thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Broad metacarpals
MedGen UID:
330796
Concept ID:
C1842229
Finding
Abnormally broad metacarpal bones.
Broad metatarsal
MedGen UID:
330797
Concept ID:
C1842231
Finding
Increased side-to-side width of a metatarsal bone.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Broad phalanx
MedGen UID:
340809
Concept ID:
C1855185
Finding
Increased side-to-side width of one or more phalanges of the fingers or toes.
Broad foot
MedGen UID:
356187
Concept ID:
C1866241
Finding
A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Craniosynostosis syndrome
MedGen UID:
1163
Concept ID:
C0010278
Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Pseudoarthrosis
MedGen UID:
46175
Concept ID:
C0033785
Finding
A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint").
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Increased susceptibility to fractures
MedGen UID:
234655
Concept ID:
C1390474
Finding
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Hypoplastic scapulae
MedGen UID:
337579
Concept ID:
C1846434
Finding
Underdeveloped scapula.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Congenital Abnormality
A bending or abnormal curvature of a long bone.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Cloverleaf skull
MedGen UID:
348010
Concept ID:
C1860050
Congenital Abnormality
Trilobar skull configuration when viewed from the front or behind.
Shallow orbits
MedGen UID:
351328
Concept ID:
C1865244
Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Choanal atresia
MedGen UID:
3395
Concept ID:
C0008297
Congenital Abnormality
Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
Nasal congestion
MedGen UID:
6523
Concept ID:
C0027424
Sign or Symptom
Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
Eruption failure
MedGen UID:
11856
Concept ID:
C0040458
Finding
A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Telecanthus
MedGen UID:
140836
Concept ID:
C0423113
Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Prominent supraorbital ridges
MedGen UID:
333982
Concept ID:
C1842060
Finding
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Hypoplastic toenails
MedGen UID:
332409
Concept ID:
C1837279
Finding
Underdevelopment of the toenail.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteoglophonic dysplasia
Follow this link to review classifications for Osteoglophonic dysplasia in Orphanet.

Recent clinical studies

Etiology

Zou Y, Lin H, Chen W, Chang L, Cai S, Lu YG, Xu L
BMC Oral Health 2022 Feb 11;22(1):36. doi: 10.1186/s12903-022-02069-6. PMID: 35148738Free PMC Article
Saxena P, Pradhan D, Verma R, Kumar SN, Deval R, Kumar Jain A
J Matern Fetal Neonatal Med 2020 May;33(10):1732-1743. Epub 2018 Nov 14 doi: 10.1080/14767058.2018.1529164. PMID: 30428736
Holder J, Zinn D, Samin A
Ultrasound Q 2017 Mar;33(1):77-81. doi: 10.1097/RUQ.0000000000000238. PMID: 27599310
White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ
Am J Hum Genet 2005 Feb;76(2):361-7. Epub 2004 Dec 28 doi: 10.1086/427956. PMID: 15625620Free PMC Article

Diagnosis

Cherian KE, Paul TV
Best Pract Res Clin Endocrinol Metab 2024 Mar;38(2):101844. Epub 2023 Nov 28 doi: 10.1016/j.beem.2023.101844. PMID: 38044258
Zou Y, Lin H, Chen W, Chang L, Cai S, Lu YG, Xu L
BMC Oral Health 2022 Feb 11;22(1):36. doi: 10.1186/s12903-022-02069-6. PMID: 35148738Free PMC Article
Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowińska-Seidler A, Piotrowicz M, Jakubowski L, Dallèves F, Riesch E, Neidhardt J, Lemke JR
Am J Med Genet A 2019 Dec;179(12):2447-2453. Epub 2019 Sep 11 doi: 10.1002/ajmg.a.61354. PMID: 31512363
Sargar KM, Singh AK, Kao SC
Radiographics 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. PMID: 29019756
Beighton P
J Med Genet 1989 Sep;26(9):572-6. doi: 10.1136/jmg.26.9.572. PMID: 2810341Free PMC Article

Therapy

Cherian KE, Paul TV
Best Pract Res Clin Endocrinol Metab 2024 Mar;38(2):101844. Epub 2023 Nov 28 doi: 10.1016/j.beem.2023.101844. PMID: 38044258
Saxena P, Pradhan D, Verma R, Kumar SN, Deval R, Kumar Jain A
J Matern Fetal Neonatal Med 2020 May;33(10):1732-1743. Epub 2018 Nov 14 doi: 10.1080/14767058.2018.1529164. PMID: 30428736

Prognosis

Zou Y, Lin H, Chen W, Chang L, Cai S, Lu YG, Xu L
BMC Oral Health 2022 Feb 11;22(1):36. doi: 10.1186/s12903-022-02069-6. PMID: 35148738Free PMC Article

Clinical prediction guides

Saxena P, Pradhan D, Verma R, Kumar SN, Deval R, Kumar Jain A
J Matern Fetal Neonatal Med 2020 May;33(10):1732-1743. Epub 2018 Nov 14 doi: 10.1080/14767058.2018.1529164. PMID: 30428736

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