Clinical characteristics.

ANKRD11-related KBG syndrome is characterized by macrodontia (particularly of the upper central incisors), characteristic facial features (triangular face; widely spaced eyes; long philtrum; nasal anomalies including prominent nasal bridge, bulbous nose, and/or anteverted nares; bushy, wide, and/or thick eyebrows; synophrys), postnatal short stature, skeletal anomalies (brachydactyly, scoliosis, coccygeal abnormalities, cervical ribs), EEG abnormalities (with or without seizures), and feeding difficulties. More than 90% of affected individuals will have some degree of developmental delay, especially in speech. Intelligence ranges from normal to moderate intellectual disability, with most individuals having mild intellectual disability. Behavioral issues, including attention-deficit/hyperactivity disorder (ADHD) and/or autism spectrum disorder (ASD), are reported in at least half of affected persons. About one quarter of affected individuals have symptoms of a movement disorder, including dystonia, tremor, ataxia, and parkinsonism. Other findings can include hearing loss (conductive, mixed, and sensorineural), cryptorchidism in males, and (less commonly) cardiac anomalies and ocular anomalies.

Diagnosis/testing.

The diagnosis of ANKRD11-related KBG syndrome is established in a proband with suggestive findings and either a heterozygous pathogenic variant involving ANKRD11 or a heterozygous deletion of 16q24.3 involving ANKRD11 identified by molecular genetic testing.

Management.

Treatment of manifestations: Surgical correction and/or speech therapy may be required for individuals with palatal anomalies. Feeding therapy for those with feeding issues; gastrostomy tube placement may be required for persistent feeding issues. Consider referral to otolaryngologist for consideration of pressure-equalizing tubes &/or tonsillectomy/adenoidectomy in individuals with chronic otitis media. Hearing aids may be helpful for those who have hearing loss. Growth hormone therapy may be considered in those who have short stature. Consider medication to arrest puberty (per endocrinologist) in those who have premature puberty. Standard treatment for developmental delay, intellectual disability, dental anomalies, gastroesophageal reflux disease, epilepsy, scoliosis/kyphosis, undescended testes, cardiovascular anomalies, vision issues, and strabismus.

Surveillance: At each visit, measure growth parameters and evaluate nutritional status and safety of oral intake; monitor those with seizures as clinically indicated; assess for new manifestations, such as seizures or movement disorders; monitor developmental progress and educational needs; and perform behavioral assessment, with special attention to any signs/symptoms suggestive of ADHD and ASD. At each visit in childhood and adolescence, assess for scoliosis/kyphosis; assess for advanced or premature puberty. Annually or as clinically indicated, perform audiology evaluation and ophthalmology evaluation. Every six months after tooth eruption, or as clinically indicated, perform dental and/or orthodontic evaluation.

Agents/circumstances to avoid: Because of the risk of hearing loss, ototoxic drugs should be avoided.

Pregnancy management: For those who have congenital heart defects, management by a cardiologist and maternal-fetal medicine physician during pregnancy should be considered. For those who have a seizure disorder that requires medical therapy, management by a neurologist during pregnancy should be considered.

Genetic counseling.

Recurrence risk for sibs of a proband with ANKDR11-related KBG syndrome depends on the genetic alteration. Seventy percent to 90% of reported deletions of 16q24.3 are de novo and the remainder are inherited in an autosomal dominant manner. Eighty-five percent of reported ANKRD11 pathogenic variants are de novo and the remainder are inherited in an autosomal dominant manner. Prenatal and preimplantation genetic testing are possible if the causative genetic alteration has been identified in an affected family member.

Suggestive Findings

Based on published suggested clinical diagnostic criteria, ANKRD11-related KBG syndrome should be suspected in a proband with:

• A history of motor or language delay OR intellectual disability OR attention deficit/hyperactivity disorder (ADHD) OR autism spectrum disorder (ASD)

AND

• At least three phenotypic features

OR

• Fewer than three phenotypic features AND at least one of the main comorbidities

Phenotypic features

• Macrodontia (mesiodistal width of permanent central incisors ≥10 mm in males, ≥9.7 mm in females) (see Figure 1), especially of the upper central incisors
• Characteristic facial appearance (see Figure 2), including:
  • Triangular face
  • Long philtrum
  • Nasal anomalies (prominent nose, anteverted nares, and/or bulbous tip)
  • Eyebrow differences (bushy, wide, and/or thick with or without synophrys)
  • Ear anomalies (large, low set, and/or prominent)
• Postnatal short stature (length and/or height <10th centile)
• Hair anomalies (e.g., low hairline, coarse hair)
• Brachydactyly
• Scoliosis

Figure 1.

Macrodontia of permanent upper central incisors, dental pits, and prominent mamelons

Figure 2.

Triangular face, synophrys, prominent nasal bridge, anteverted nares, long philtrum, and thin vermilion of the upper lip in two affected males

Main comorbidities

• Feeding difficulties
• Cryptorchidism in males
• Conductive hearing loss and/or chronic/recurrent otitis media
• Vision issues
• Congenital heart defects
• Seizures
• A first-degree relative with a clinical diagnosis of KBG syndrome
  Note: (1) Absence of a family history of KBG syndrome does not preclude the diagnosis. (2) If there is a known family history of molecularly confirmed KBG syndrome, see Management, Evaluation of Relatives at Risk.

Establishing the Diagnosis

The diagnosis of ANKRD11-related KBG syndrome is established in a proband with suggestive findings and one of the following identified by molecular genetic testing (see Table 1):

• A heterozygous pathogenic (or likely pathogenic) variant involving ANKRD11 (~80% of affected individuals) [Stenson et al 2020, Martinez-Cayuelas et al 2023]
• A heterozygous deletion of 16q24.3 involving ANKRD11 (~20% of affected individuals) [Stenson et al 2020, Martinez-Cayuelas et al 2023]

Note: (1) Per American College of Medical Genetics and Genomics (ACMG) / Association for Molecular Pathology variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely pathogenic variants. (2) Identification of a heterozygous ANKRD11 variant of uncertain significance does not establish or rule out the diagnosis; however, an epigenetic signature analysis may help determine if a VUS is more likely to be pathogenic or benign.

Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved (see Option 1), whereas comprehensive genomic testing does not (see Option 2).

Clinical Description

To date, more than 375 individuals have been identified with a pathogenic variant in ANKRD11 [Goldenberg et al 2016, Low et al 2016, van Dongen et al 2017, Martinez-Cayuelas et al 2023, Peluso et al 2023, Bayat et al 2024]. The following description of the phenotypic features associated with this condition is based on these reports.

Craniofacial anomalies

• Dental. Macrodontia of permanent upper central incisors is reported in 80% of affected individuals. Other dental findings include:
  • Cleft teeth
  • Shovel-shaped incisors
  • Enamel hypoplasia
  • Hypo- or oligodontia
  • Dental pits
  • Talon cusps
  • Dental crowding
  • Large dental pulps
  • Supernumerary mamelons
• Dysmorphic features have been reported in 62%-80% of affected individuals (see Figure 2). The characteristic facial appearance includes a triangular face, brachycephaly, synophrys with full eyebrows, and widely spaced eyes.
  • A prominent nasal bridge, bulbous nose, anteverted nares, broad or bushy eyebrows, prominent ears, long philtrum, and thin vermilion of the upper lip are also common.
  • Less commonly, cleft of the soft palate or submucous cleft, bifid uvula, and velopharyngeal insufficiency have been reported.

Developmental delay (DD) and intellectual disability (ID). Cognitive skills can be quite variable among affected individuals. More than 90% of affected individuals will have some degree of developmental delay, especially in speech. Intelligence ranges from normal to moderate intellectual disability, with most individuals having mild intellectual disability [Martinez-Cayuelas et al 2023, Bayat et al 2024]. Cognitive decline in adulthood has been reported in two affected individuals, one of whom was 76 years old and was suspected of having dementia; at this time, there is no evidence that cognitive decline is a common finding in this condition [Bayat et al 2024].

• Average age for walking is 21 months.
• Average age for first words is 25-36 months.
• The voice character may be hoarse.
• It is not uncommon for verbal IQ to surpass performance IQ.
• Some affected children attend mainstream classes with minimal additional aid while others require special education.
  • Completing a regular high school without support appears to be rare; however, some reported adults have completed trade school.
  • More than half of affected adults had jobs and were self-sufficient.
  • Some adults were able to live completely independently, while others required some assistance with tasks at home, such as finances.
  • Some affected women have had children and raised them with help from a spouse or other family members [Goldenberg et al 2016, Low et al 2016, Low et al 2025].

Neurobehavioral/psychiatric manifestations. Behavioral issues are reported in at least half of affected persons with ANKRD11-related KBG syndrome (see also Genotype-Phenotype Correlations). Milder issues include poor concentration and restless movement. More severe issues include obsessions and deteriorating behavior when routines are changed. Anxiety and shyness are common, as are reports of difficulty in understanding social situations.

• Forty-five percent of affected individuals have a known or suspected diagnosis of attention-deficit/hyperactivity disorder (ADHD).
• Approximately 30% of affected individuals have a known or suspected diagnosis of autism spectrum disorder (ASD).

Skeletal. Variable skeletal anomalies have been reported in 62%-75% of affected individuals. The most frequent findings are scoliosis, coccygeal abnormalities, and cervical ribs. One study identified that there are frequent anomalies of the hand bones, such as delayed ossification and carpal bone morphology [Peluso et al 2023].

• A large anterior fontanelle with delayed closure can also be seen.
• Other abnormalities include a short and webbed neck, abnormal ribs, brachydactyly, clinodactyly, syndactyly of toes 2-3, kyphosis, scoliosis, hip dysplasia or Perthes disease, sternum abnormalities, and wormian bones in the skull.
• Clavicular pseudoarthrosis and osteopenia have also been reported [Murray et al 2017].

Gastrointestinal/feeding issues, especially during infancy, are reported in about 40% of affected individuals and include vomiting, constipation, and gastroesophageal reflux disease [Martinez-Cayuelas et al 2023]. Short stature is also common (see Endocrine).

EEG abnormalities / epilepsy. EEG abnormalities, with or without seizures, have been reported in about 50% of affected individuals [Guo et al 2022]. The type of epilepsy is variable [Auconi et al 2023, Whitney et al 2024].

• Age of onset can range from infancy to the teenage years, with the median age of onset being four years [Buijsse et al 2023].
• Although tonic-clonic seizures are most common, no one specific type of epilepsy has been associated with this condition.
• Treatment with anti-seizure medication has proven effective in the majority of affected individuals (see Management).
• Some have remission of symptoms after adolescence [Auconi et al 2023].
• A few affected individuals have reportedly had severe seizures at a young age (described as infantile spasms / epileptic encephalopathy).
• In 23 reported individuals with epilepsy, seven were drug resistant [Samanta & Willis 2015, Buijsse et al 2023].

Movement disorder. About 26% (33/126) of reported affected individuals had symptoms of a movement disorder, including dystonia, tremor, ataxia, and parkinsonism [Magistrelli et al 2023, Bayat et al 2024, Stehr et al 2024, Dantam et al 2025, Stefanou et al 2025]. One affected child was reported to have paroxysmal dystonia [Dantam et al 2025].

Hearing issues are seen in 25%-31% of affected individuals [Rhamati et al 2023].

• All types of hearing loss (conductive, mixed, and sensorineural) have been reported in association with the condition, with conductive loss being the most common.
• Recurrent otitis media has been shown to cause hearing loss in some affected individuals.

Genitourinary abnormalities. Undescended testicles have been reported in between 25% and 44% of males [Low et al 2016, Martinez-Cayuelas et al 2023].

Cardiac defects, including atrial septal defect and ventricular septal defect, have been reported in 10%-26% of affected individuals [Digilio et al 2022].

Endocrine. Short stature (below the 3rd centile) has been observed in 40%-77% of affected individuals [Reynaert et al 2015, Goldenberg et al 2016, He et al 2024]. Endocrinologic evaluations for short stature typically are normal; however, delayed bone age may be seen.

• Preliminary evidence suggests that growth hormone therapy may increase the height potential of affected individuals [Reynaert et al 2015, He et al 2024, Aukema et al 2025].
• Advanced puberty, sometimes requiring treatment, has been reported in some individuals.

Ophthalmologic involvement. Various ocular findings, including strabismus, congenital bilateral cataract, high myopia, and megalocornea have also been reported [Carter et al 2024].

Skin. Skin and hair abnormalities, such as hyperpigmentation, ichthyosis, hypertrichosis, abnormal hair whorls, and dystrophic nails, have been reported [Low et al 2016].

Other features

• Prenatal findings. Intrauterine growth restriction has been reported in about 20% of affected individuals [Martinez-Cayuelas et al 2023]. Out of 12 affected individuals, the following were seen prenatally [Jing et al 2025]:
  • Increased nuchal translucency (5 individuals)
  • Mild ventriculomegaly (4 individuals)
  • Umbilical systemic shunt (2 individuals)
• Neuroimaging. The frequency of brain malformations is not known because brain MRI has not been performed in large cohorts of affected individuals.
  • A retrospective study of imaging suggests that incomplete hippocampal inversion and posterior fossa malformations are most common [Peluso et al 2023].
  • However, various brain abnormalities have been reported, including cerebellar vermis hypoplasia, enlarged cysterna magna, Chiari I malformation, periventricular nodular heterotopia, mild periventricular leukomalacia, pineal cyst, dysgenesis or agenesis of the corpus callosum, colpocephaly, posterior fossa arachnoid cyst, widespread calcification, and optic nerve hypoplasia [Ockeloen et al 2015, Low et at 2016, Murray et al 2017].
• Malignancy. There has been one case report of an individual with ANKRD11-related KBG syndrome due to a 16q24.3 deletion in which the affected male had a paratesticular rhabdoid tumor [Behnert et al 2018]. It is unclear if this is a true association or a rare co-occurrence of two unrelated conditions. Therefore, tumor screening for ANKRD11-related KBG syndrome has not been recommended.

Prognosis. The life span in ANKRD11-related KBG syndrome does not appear to be abnormal. About 200 adults with the condition have been reported, with the oldest reported individual alive at age 76 years [Bayat et al 2024], demonstrating that survival into adulthood is possible. Since many adults with disabilities have not undergone advanced genetic testing, it is likely that adults with this condition are underrecognized and underreported.

Genotype-Phenotype Correlations

Intragenic pathogenic variants

• Affected individuals with pathogenic missense variants tend to have less significant neurodevelopmental findings compared to those who have other pathogenic variants [Choi et al 2023].
  Individuals with the common c.1903_1907delAAACA (p.Lys635GlnfsTer26) pathogenic variant had a lower prevalence of cognitive and neurodevelopmental issues, such as intellectual disability, ADHD, and/or ASD, compared to individuals with other intragenic pathogenic variants (70.4% vs 89.4, respectively) [Martinez-Cayuelas et al 2023].
• Short stature was more prevalent among affected individuals with pathogenic variants in exon 9 (62.5%) than in affected individuals with intragenic pathogenic variants outside exon 9 (27.8%).

16q24.3 deletions. Individuals with a larger deletion of 16q24.3 that includes ANKRD11 and adjacent genes have the findings of KBG syndrome listed previously. Depending on the size of the deletion and other gene involvement, additional findings may be present [Willemsen et al 2010, Sacharow et al 2012, Khalifa et al 2013, Miyatake et al 2013, Kutkowska-Kaźmierczak et al 2021].

• Previous studies reported an association between ASD and the 16q24.3 deletion [Willemsen et al 2010, Handrigan et al 2013].
• Deletions in the 16q24.3 region are not recurrent; each affected individual or family appears to have a novel deletion. It is likely that other genes deleted in this region have an effect on the phenotype [Sacharow et al 2012, Lim et al 2014].
• Individuals with a 16q24.3 deletion that includes ANKRD11 and surrounding genes generally have a more severe phenotype, with brain anomalies detected in 28%, congenital heart defects in 33%, severe astigmatism in 28%, and thrombocytopenia in 22% [Novara et al 2017].

Nomenclature

"KBG" is derived from the initials of the first three families in which KBG syndrome was characterized [Herrmann et al 1975].

ANKRD11-related KBG syndrome may also be referred to as "ANKRD11-related neurodevelopmental disorder" based on the dyadic naming approach proposed by Biesecker et al [2021] to delineate mendelian genetic disorders.

Prevalence

ANKRD11-related KBG syndrome is becoming increasingly recognized. While overall prevalence is unknown, to date more than 375 individuals have been reported in the literature.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with ANKRD11-related KBG syndrome, the evaluations summarized in Table 4 (if they have not already been completed) are recommended.

Treatment of Manifestations

There is no cure for ANKRD11-related KBG syndrome. Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see Table 5).

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 6 are recommended.

Agents/Circumstances to Avoid

Because of the risk of hearing loss, ototoxic drugs should be avoided.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Pregnancy Management

There are no universal pregnancy issues in women with ANKRD11-related KBG syndrome. Pregnancy management should be tailored to the specific features present in the affected woman. For those who have congenital heart defects, management by a cardiologist and maternal-fetal medicine physician during pregnancy should be considered. For those who have a seizure disorder that requires medical therapy, management by a neurologist during pregnancy should be considered.

In general, women with epilepsy or a seizure disorder of any cause are at greater risk for mortality during pregnancy than pregnant women without a seizure disorder; use of anti-seizure medications (ASMs) during pregnancy reduces this risk. However, exposure to ASMs may increase the risk for adverse fetal outcome (depending on the drug used, the dose, and the stage of pregnancy at which medication is taken). Nevertheless, the risk of an adverse outcome to the fetus from ASM exposure is often less than that associated with exposure to an untreated maternal seizure disorder. Therefore, use of ASMs to treat a maternal seizure disorder during pregnancy is typically recommended. Discussion of the risks and benefits of using a given ASM during pregnancy should ideally take place prior to conception. Transitioning to a lower-risk medication prior to pregnancy may be possible [Pack et al 2024].

To access further information on medication use during pregnancy, visit MotherToBaby.

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions.

Mode of Inheritance

ANKRD11-related KBG syndrome is an autosomal dominant disorder typically caused by a de novo genetic alteration (either a pathogenic variant in ANKRD11 or a deletion of 16q24.3 that includes ANKRD11).

Risk to Family Members – ANKRD11 Pathogenic Variant

Parents of a proband

• Approximately 15% of individuals with ANKRD11-related KBG syndrome caused by a pathogenic variant in ANKRD11 have an affected parent.
• Approximately 85% of individuals with ANKRD11-related KBG syndrome caused by a pathogenic variant in ANKRD11 have a de novo pathogenic variant [de Boer et al 2022, Loberti et al 2022].
• If the proband appears to be the only affected family member (i.e., a simplex case), molecular genetic testing is recommended for the parents of the proband to evaluate their genetic status and inform recurrence risk assessment. De novo occurrence of an ANKRD11 pathogenic variant cannot be confirmed unless molecular genetic testing has demonstrated that neither parent is heterozygous for the ANKRD11 pathogenic variant. Note: In some families a mildly affected mother is diagnosed only after a typically affected child is recognized [Brancati et al 2006].
• If the pathogenic variant identified in the proband is not identified in either parent and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:
  • The proband has a de novo pathogenic variant.
  • The proband inherited a pathogenic variant from a parent with gonadal (or somatic and gonadal) mosaicism. Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ (gonadal) cells only.
    * A parent with somatic and gonadal mosaicism for an ANKRD11 pathogenic variant may be mildly/minimally affected [Crippa et al 2015, Guo et al 2022].

Sibs of a proband. The risk to the sibs of a proband depends on the clinical/genetic status of the proband's parents:

• If a parent of the proband is affected and/or is known to have the ANKRD11 pathogenic variant identified in the proband, the risk to sibs of inheriting the variant is 50%. Intrafamilial clinical variability has been reported and it is not possible to reliably predict clinical severity in offspring who inherit the pathogenic variant.
• If the ANKRD11 pathogenic variant identified in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is slightly greater than that of the general population because of the possibility of parental gonadal mosaicism.
• If the parents have not been tested for the ANKRD11 pathogenic variant but are clinically unaffected, sibs are still at increased risk for ANKRD11-related KBG syndrome because of the possibility of a very mild phenotype in a mosaic parent [Crippa et al 2015, Guo et al 2022].

Offspring of a proband. Each child of an individual with ANKRD11-related KBG syndrome caused by a pathogenic variant in ANKRD11 has a 50% chance of inheriting the ANKRD11 pathogenic variant; it is not possible to reliably predict clinical severity in offspring who inherit the pathogenic variant.

Other family members. The risk to other family members depends on the status of the proband's parents: if a parent has the ANKRD11 pathogenic variant, the parent's family members may be at risk.

Risk to Family Members – 16q24.3 Deletion Including ANKRD11

Parents of a proband

• Ten percent to 30% of individuals with ANKRD11-related KBG syndrome caused by deletion of 16q24.3 have a parent who is mildly affected and/or has the deletion in a mosaic fashion.
• Seventy percent to 90% of individuals with ANKRD11-related KBG syndrome caused by deletion of 16q24.3 have a de novo deletion [Wojciechowska et al 2021, Loberti et al 2022, Martinez-Cayuelas et al 2023].
• Evaluation of the parents by genomic testing that will detect the deletion identified in the proband is recommended and should include karyotype to determine if either parent is a carrier of a balanced translocation or other predisposing chromosomal anomaly.
• If the 16q24.3 deletion identified in the proband is not identified in either parent, neither parent has a balanced translocation or other predisposing chromosomal anomaly, and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:
  • The proband has a de novo deletion.
  • The proband inherited a 16q24.3 deletion from a parent with gonadal (or somatic and gonadal) mosaicism [Khalifa et al 2013].

Sibs of a proband. The risk to the sibs of a proband depends on the clinical/genetic status of the proband's parents.

• If one of the parents has the 16q24.3 deletion identified in the proband, the risk to each sib of inheriting the deletion is 50%. It is not possible to reliably predict clinical severity in sibs who inherit the deletion.
• If a predisposing balanced chromosome rearrangement is identified in a parent, risk to sibs depends on the specific structural variant.
• If the 16q24.3 deletion identified in the proband is not identified in either parent, the risk to sibs is low (<1%) but greater than that of the general population because of the possibility of parental mosaicism [Khalifa et al 2013].

Offspring of a proband. Each child of an individual with a 16q24.3 deletion has a 50% chance of inheriting the 16q24.3 deletion; it is not possible to reliably predict clinical severity in offspring who inherit the deletion.

Other family members. The risk to other family members depends on the status of the proband's parents: if a parent has the 16q24.3 deletion, the parent's family members may be at risk.

Related Genetic Counseling Issues

Family planning

• The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
• It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk of having a child with KBG syndrome.

Prenatal Testing and Preimplantation Genetic Testing

Once the causative genetic alteration has been identified in a family member with ANKRD11-related KBG syndrome, prenatal and preimplantation genetic testing are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.

Molecular Pathogenesis

ANKRD11 encodes ankyrin repeat domain-containing protein 11 (ANKRD11), a chromatin-regulating cofactor that recruits histone acetylation modifiers (e.g., HDAC3 and P/CAF/p300-associated factors) to influence transcription programs critical for neurodevelopment and craniofacial/bone formation [Kibalnyk et al 2024]. Animal models support dosage sensitivity during cortical development and craniofacial/osseous morphogenesis [Morel Swols et al 2017].

At the cellular level, ANKRD11 modulates neuronal progenitor proliferation, neuronal migration, dendritic growth, and synaptogenesis pathways (including BDNF/TrkB signaling), providing a mechanistic link to neurodevelopmental phenotypes [Ka & Kim 2018]. Emerging work further shows ANKRD11 is required for intramembranous ossification, palate development, and cardiac neural crest biology, aligning with skeletal and congenital features observed clinically [Roth et al 2021].

Mechanism of disease causation. Loss of function

ANKRD11-specific laboratory technical considerations. Deletions involving the 5′ noncoding exon(s) of ANKRD11 – particularly exon 1 and adjacent promoter/UTR – can cause KBG syndrome by reducing gene expression; accordingly, copy number analysis should include the upstream noncoding region [Borja et al 2023, Iwata-Otsubo et al 2025].

Acknowledgments

We are grateful to Rena Pressman for her critical reading.

Revision History

• 11 June 2026 (ma) Comprehensive update posted live
• 22 March 2018 (ma) Review posted live
• 21 June 2017 (mt) Original submission

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