Hardikar Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Cholestasis with pigmentary retinopathy and cleft palate syndrome, Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder), Cholestasis-pigmentary retinopathy-cleft palate syndrome

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Introduction

A syndrome of multiple congenital malformations with an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension) and obstructive renal disease (ectopic ureteric insertion, obstruction, hydronephrosis). Gastrointestinal tract and cardiac involvement have also been reported. An overlap with Kabuki syndrome is debated.

100 Clinical Results associated with Hardikar Syndrome

100 Translational Medicine associated with Hardikar Syndrome

0 Patents (Medical) associated with Hardikar Syndrome

Literatures (Medical) associated with Hardikar Syndrome

01 Feb 2025·Prenatal Diagnosis

A Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome

Article

Author: Pei, Yuanyuan ; Liu, Weiqiang ; Zhang, Tong ; Xu, Jinmao ; Liu, Jinghua ; Wu, Liping ; Cong, Xiaoyi ; Zheng, Hongping

ABSTRACTChromosomal microarray analysis (CMA), methylation‐specific multiplex ligation‐dependent probe amplification (MS‐MLPA), and trio‐whole exome sequencing (WES) were performed in a female fetus with omphalocele. A de novo heterozygous 300‐kb deletion in the Xq13.1 region, which includes the MED12 gene, was identified. Follow‐up ultrasound at 18+4 weeks of gestation revealed features consistent with Hardikar syndrome (HS), including a right‐sided cleft lip and palate, an omphalocele with intestines, a diaphragmatic hernia with the stomach in the left thoracic cavity, and displacement of the heart to the right. Phenotypic evaluation confirmed the presence of a cleft lip and palate as well as umbilical hernia. These findings suggest that a heterozygous deletion of the entire MED12 gene may contribute to the HS phenotype. This case extends the possible damaging effects of haploinsufficiency of the MED12 gene in the pathogenesis of HS.

01 Jan 2025·American Journal of Medical Genetics Part A

MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability

Article

Author: Vossaert, Liesbeth ; Kao, Eric C. ; Dai, Hongzheng ; Bacino, Carlos A. ; Mizerik, Elizabeth A. ; Scott, Daryl A.

ABSTRACTMediator complex subunit 12 (MED12) is required for the assembly of the kinase module of Mediator, a regulatory complex that controls the formation of the RNA polymerase II‐mediated preinitiation complex. MED12‐related disorders display unique gender‐specific genotype–phenotype associations and include X‐linked recessive Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, Ohdo syndrome, and nonspecific intellectual disability in males predominantly carrying missense variants, and X‐linked dominant Hardikar syndrome and nonspecific intellectual disability in females known to predominantly carry de novo nonsense/frameshift and nonsense/missense variants, respectively. MED12 was previously identified as a low‐penetrance candidate gene for non‐isolated congenital diaphragmatic hernia (CDH+). At the time, however, there was insufficient evidence to confirm this association. In a clinical database search, we identified 18 individuals who were molecularly diagnosed with MED12‐related disorders by exome or genome sequencing, including eight missense, four frameshift, two nonsense, and one splice variant. Nine of these variants have not been previously reported. Two females with nonspecific intellectual disability were found to carry a de novo frameshift variant, indicating that potentially truncating variants causing nonspecific intellectual disability are not limited to nonsense variants. Notably, CDH was reported in three out of seven females with Hardikar syndrome or nonspecific intellectual disability but was not reported in males with MED12‐related disorders. These results suggest that pathogenic MED12 variants are a cause of CDH+ in females with Hardikar syndrome and nonspecific intellectual disability.

01 Nov 2024·RETINAL Cases & Brief Reports

MULTIMODAL RETINAL IMAGING FINDINGS IN HARDIKAR SYNDROME

Article

Author: Naravane, Ameay ; Simmons, Michael A. ; Adams, Olufemi E. ; Tang, Peter H. ; Looysen, Tyler ; Hussein, Musse ; Montezuma, Sandra R. ; Adeleye, Olufunmilola

Purpose:To describe the syndromic, clinical, and retinal findings of a patient with an extremely-rare genetic condition known as Hardikar syndrome (HS) with presentation of optical coherence tomography, fundus autofluorescence, fluorescein angiographic, and indocyanine green angiographic findings.Methods:Clinical course was detailed and followed over time with examinations and multimodal imaging.Patient and Results:A 17-year-old patient with HS was referred for possible retinitis pigmentosa. Dilated fundoscopic examination revealed large, multifocal cauliform patches of chorioretinal retinal pigment epithelium changes with retinal pigment epithelium drop-out involving the macula and periphery in both eyes. Additionally, an inactive choroidal neovascular membrane was present in the left eye. Multimodal imaging with optical coherence tomography, fundus autofluorescence, fluorescein angiography, and indocyanine green angiography correlated with the clinical findings of focal patches of chorioretinal degeneration in both eyes. Additionally, an anomalous finding of the superior retinal arterial vessels filling in tandem with the choroidal was present in the left eye. The patient's clinical findings were consistent with HS, and genetic testing with whole-exome sequencing revealed a pathogenic mutation in the MED12 gene, confirming diagnosis.Discussion and Conclusions:Hardikar syndrome is associated with retinal pigment epithelium degeneration, creating focal patches of pigmentary chorioretinal atrophic lesions. Vision loss can occur because of the development of choroidal neovascular membranes. The authors recommend close evaluation and follow-up for HS patients with multimodal retinal imaging.

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Hardikar Syndrome

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