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Juberg-Hayward syndrome(JHS)

MedGen UID:
162906
Concept ID:
C0796099
Disease or Syndrome
Synonyms: Cleft lip/palate with abnormal thumbs and microcephaly; JHS; Orocraniodigital syndrome
SNOMED CT: Juberg Hayward syndrome (721874001); Orocraniodigital syndrome (721874001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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): ESCO2 (8p21.1)
 
Monarch Initiative: MONDO:0008992
OMIM®: 216100
Orphanet: ORPHA2319

Definition

Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients (Kantaputra et al., 2020). [from OMIM]

Clinical features

From HPO
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Abnormal carpal morphology
MedGen UID:
374491
Concept ID:
C1840535
Anatomical Abnormality
An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).
Limited elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Abnormal toe morphology
MedGen UID:
390611
Concept ID:
C2674738
Finding
An anomaly of a toe.
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Abnormality of the radial head
MedGen UID:
867332
Concept ID:
C4021696
Anatomical Abnormality
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Anteriorly placed anus
MedGen UID:
333160
Concept ID:
C1838705
Finding
Anterior malposition of the anus.
Abnormal abdomen morphology
MedGen UID:
866551
Concept ID:
C4020869
Anatomical Abnormality
A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Highly arched eyebrow
MedGen UID:
358357
Concept ID:
C1868571
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Decreased response to growth hormone stimulation test
MedGen UID:
1784655
Concept ID:
C5539399
Finding
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
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).

Professional guidelines

PubMed

Couvreur-Lionnais S, Rousseau T, Laurent N, Thauvin-Robinet C, Senet-Lacombe E, Delezoïde AL, Mugneret F, Durand C, Faivre L, Sagot P
Prenat Diagn 2005 Feb;25(2):172-5. doi: 10.1002/pd.943. PMID: 15712337

Recent clinical studies

Etiology

Hedera P, Innis JW
Am J Med Genet A 2003 Oct 15;122A(3):257-60. doi: 10.1002/ajmg.a.20263. PMID: 12966528

Diagnosis

Berger M, Rost I, Schmidt H
Clin Dysmorphol 2011 Apr;20(2):121-126. doi: 10.1097/MCD.0b013e328341679e. PMID: 21326092
Couvreur-Lionnais S, Rousseau T, Laurent N, Thauvin-Robinet C, Senet-Lacombe E, Delezoïde AL, Mugneret F, Durand C, Faivre L, Sagot P
Prenat Diagn 2005 Feb;25(2):172-5. doi: 10.1002/pd.943. PMID: 15712337
Reardon W, Hall CM, Gorman W
Clin Dysmorphol 2001 Apr;10(2):123-8. doi: 10.1097/00019605-200104000-00009. PMID: 11310992
Verloes A, Le Merrer M, Davin JC, Wittamer P, Abrassart C, Bricteux G, Briard ML
J Med Genet 1992 Apr;29(4):262-5. doi: 10.1136/jmg.29.4.262. PMID: 1583649Free PMC Article

Prognosis

Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR
Eur J Orthod 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. PMID: 32255174
Hedera P, Innis JW
Am J Med Genet A 2003 Oct 15;122A(3):257-60. doi: 10.1002/ajmg.a.20263. PMID: 12966528

Clinical prediction guides

Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR
Eur J Orthod 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. PMID: 32255174
Reardon W, Hall CM, Gorman W
Clin Dysmorphol 2001 Apr;10(2):123-8. doi: 10.1097/00019605-200104000-00009. PMID: 11310992
Verloes A, Le Merrer M, Davin JC, Wittamer P, Abrassart C, Bricteux G, Briard ML
J Med Genet 1992 Apr;29(4):262-5. doi: 10.1136/jmg.29.4.262. PMID: 1583649Free PMC Article

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