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Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome(GPIBD24; OORS)

MedGen UID:
1788511
Concept ID:
C5543496
Disease or Syndrome
Synonyms: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 24; OORS SYNDROME
 
Gene (location): PIGF (2p21)
 
Monarch Initiative: MONDO:0859161
OMIM®: 619356

Definition

Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, and hypoplastic terminal phalanges and nails. Patients have seizures or tonic posturing. The disorder is associated with a defect in GPI anchoring of membrane-bound proteins (summary by Salian et al., 2021). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). See also DOORS syndrome (220500), which shows some overlapping clinical features. [from OMIM]

Clinical features

From HPO
Impaired toileting ability
MedGen UID:
1377201
Concept ID:
C4476941
Finding
This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.
Short distal phalanx of finger
MedGen UID:
326590
Concept ID:
C1839829
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Bilateral triphalangeal thumbs
MedGen UID:
867267
Concept ID:
C4021627
Congenital Abnormality
A bilateral form of triphalangeal thumb.
Short distal phalanx of toe
MedGen UID:
867401
Concept ID:
C4021771
Anatomical Abnormality
Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Head-banging
MedGen UID:
42337
Concept ID:
C0018672
Mental or Behavioral Dysfunction
Habitual striking of one's own head against a surface such as a mattress or wall of a crib.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Poor head control
MedGen UID:
322809
Concept ID:
C1836038
Finding
Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Abnormality of alkaline phosphatase level
MedGen UID:
892397
Concept ID:
C4025328
Finding
An abnormality of alkaline phosphatase level.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Microdontia
MedGen UID:
66008
Concept ID:
C0240340
Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Finding
A facial appearance characterized by a permanently or nearly permanently opened mouth.
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).
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Delayed eruption of permanent teeth
MedGen UID:
340353
Concept ID:
C1849540
Finding
Delayed tooth eruption affecting the secondary dentition.
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.
Hypoplastic toenails
MedGen UID:
332409
Concept ID:
C1837279
Finding
Underdevelopment of the toenail.
Hypoplastic fingernail
MedGen UID:
347304
Concept ID:
C1856786
Finding
Underdevelopment of a fingernail.
Absent fifth toenail
MedGen UID:
867510
Concept ID:
C4021892
Anatomical Abnormality
Hypoplastic thumbnail
MedGen UID:
868456
Concept ID:
C4022850
Anatomical Abnormality
A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.
Hypoplastic fifth fingernail
MedGen UID:
870244
Concept ID:
C4024682
Anatomical Abnormality
A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.

Recent clinical studies

Etiology

Gao X, Dai P, Yuan YY
Hum Genet 2022 Apr;141(3-4):821-838. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02310-2. PMID: 34232384

Diagnosis

Gao X, Dai P, Yuan YY
Hum Genet 2022 Apr;141(3-4):821-838. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02310-2. PMID: 34232384
Tona R, Chen W, Nakano Y, Reyes LD, Petralia RS, Wang YX, Starost MF, Wafa TT, Morell RJ, Cravedi KD, du Hoffmann J, Miyoshi T, Munasinghe JP, Fitzgerald TS, Chudasama Y, Omori K, Pierpaoli C, Banfi B, Dong L, Belyantseva IA, Friedman TB
Hum Mol Genet 2019 May 1;28(9):1530-1547. doi: 10.1093/hmg/ddy445. PMID: 30602030Free PMC Article

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