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Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome(PHS2, FORMERLY; CJS)

MedGen UID:
862916
Concept ID:
C4014479
Disease or Syndrome
Synonym: Culler-Jones syndrome
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): GLI2 (2q14.2)
 
Monarch Initiative: MONDO:0014369
OMIM®: 615849
Orphanet: ORPHA420584

Definition

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. [from ORDO]

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).
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Postaxial polydactyly
MedGen UID:
67394
Concept ID:
C0220697
Congenital Abnormality
Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the CIBAR1 gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.
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).
Hypopituitarism
MedGen UID:
9386
Concept ID:
C0020635
Disease or Syndrome
A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.
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.
Anterior pituitary hypoplasia
MedGen UID:
347950
Concept ID:
C1859775
Congenital Abnormality
Underdevelopment of the anterior pituitary gland.
Ectopic posterior pituitary
MedGen UID:
481201
Concept ID:
C3279571
Finding
An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.
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.
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.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Diabetes insipidus
MedGen UID:
8349
Concept ID:
C0011848
Disease or Syndrome
A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Hypotelorism
MedGen UID:
96107
Concept ID:
C0424711
Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Recent clinical studies

Etiology

Corder ML, Berland S, Førsvoll JA, Banerjee I, Murray P, Bratland E, Gokhale D, Houge G, Douzgou S
Am J Med Genet A 2022 Apr;188(4):1065-1074. Epub 2021 Dec 17 doi: 10.1002/ajmg.a.62611. PMID: 34921505
Knowles JC, Brandt IK, Bull MJ
Am J Med Genet 1981;8(4):389-93. doi: 10.1002/ajmg.1320080404. PMID: 7246610

Diagnosis

Demiral M, Demirbilek H, Unal E, Durmaz CD, Ceylaner S, Özbek MN
J Clin Res Pediatr Endocrinol 2020 Sep 2;12(3):319-328. Epub 2019 Nov 29 doi: 10.4274/jcrpe.galenos.2019.2019.0142. PMID: 31782289Free PMC Article
Jurcă MC, Bembea M, Kozma K, Şandor MI, Negrean RA, Dobjanschi L, Cuc EA, Petcheşi CD, Jurcă AD
Rom J Morphol Embryol 2018;59(1):381-384. PMID: 29940653
Al-Gazali LI, Sztriha L, Punnose J, Shather W, Nork M
J Med Genet 1999 Feb;36(2):161-6. PMID: 10051020Free PMC Article
Iafolla K, Fratkin JD, Spiegel PK, Cohen MM Jr, Graham JM Jr
Am J Med Genet 1989 Aug;33(4):489-99. doi: 10.1002/ajmg.1320330416. PMID: 2688416
Knowles JC, Brandt IK, Bull MJ
Am J Med Genet 1981;8(4):389-93. doi: 10.1002/ajmg.1320080404. PMID: 7246610

Prognosis

Goossens L, Janssens S, Meersschaut V, Peeters H, Devlieger H, Devriendt K
Clin Dysmorphol 2006 Apr;15(2):71-4. doi: 10.1097/01.mcd.0000194409.30794.66. PMID: 16531731
Knowles JC, Brandt IK, Bull MJ
Am J Med Genet 1981;8(4):389-93. doi: 10.1002/ajmg.1320080404. PMID: 7246610

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