Clinical characteristics.

SRCAP-related Floating-Harbor syndrome (SRCAP-FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, broad fingertips, clinodactyly, short thumbs, prominent joints, and clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior, present in many children, tend to improve in adulthood. Other features can include hyperopia and/or strabismus, conductive hearing loss, seizures, gastroesophageal reflux, renal anomalies (e.g., hydronephrosis / renal pelviectasis, cysts, and/or agenesis), and genital anomalies (e.g., hypospadias and/or undescended testes).

Diagnosis/testing.

The diagnosis is established in a proband with suggestive findings and a heterozygous SRCAP pathogenic variant identified by molecular genetic testing.

Management.

Treatment of manifestations: Referral to an endocrinologist for consideration of human growth hormone (HGH) therapy; however, data on use of HGH in SRCAP-FHS are limited. Early intervention programs, special education, and vocational training to address developmental disabilities; communication rehabilitation with sign language or alternative means of communication; behavior management by a behavioral specialist / psychologist with consideration of medication as needed. Standard treatment for refractive errors, strabismus, hearing loss, seizures, gastroesophageal reflux, constipation, kidney and genitourinary anomalies, orthopedic, dental, and cardiac issues; family and social work support.

Surveillance: Close monitoring of growth, especially in the first year of life. Bone age and evaluation for signs of early puberty as needed, especially in those on HGH. Monitor developmental progress and educational needs at each visit. Assess for seizures, gastroesophageal reflux, constipation, and manifestations of celiac disease at each visit. Annual behavioral assessment, ophthalmologic evaluation, audiology evaluation, blood pressure measurement, and assessment of kidney function. Monitor kidney anomalies per nephrologist. Kidney ultrasound to assess for cysts in teenage and adult years with follow up as needed. Orthopedic assessment for kyphoscoliosis and clinical manifestations of Perthes disease as needed. Dental evaluation every six months.

Genetic counseling.

SRCAP-FHS is inherited in an autosomal dominant manner. The majority of affected individuals have a de novo pathogenic variant. Each child of an individual with SRCAP-FHS has a 50% chance of inheriting the pathogenic variant. Prenatal and preimplantation genetic testing are possible for families in which the pathogenic variant has been identified.

Suggestive Findings

SRCAP-FHS should be suspected in individuals with the following clinical and radiographic features.

Craniofacial appearance (See Figure 1.)

Figure 1.

Facial appearance of a girl age 11 years with SRCAP-related Floating-Harbor syndrome A. Note triangular face with deep-set eyes; short philtrum; long nose with narrow nasal bridge and broad nasal base with low-hanging columella; and thin vermilion of (more...)

• Triangular face
• Deep-set eyes
• Short philtrum
• Wide mouth with thin vermilion of the upper lip
• Long nose with narrow bridge, broad base, broad tip, and low-hanging columella
• Low-set ears

Other features

• Proportionate short stature (see Figure 3). Adult stature of 140-155 cm
• Significant delay in bone age early in childhood (≥2 standard deviations below the mean for age and sex) with normalization between ages six and 12 years
• Skeletal anomalies. Brachydactyly, broad fingertips that give the appearance of clubbing, clinodactyly, short thumbs, prominent joints (see Figure 2), and clavicular abnormalities

Figure 3.

Frontal view of the girl in Figure 1. She has proportionate short stature with height <3rd centile.

Figure 2.

Dorsal (A) and palmar (B) view of the hands of the girl in Figure 1. Note clinodactyly, widened fingertips, and prominent joints.

Speech and language

• Dysarthria and verbal dyspraxia with phoneme imprecision
• Hypernasality
• High-pitched voice
• Severe receptive and expressive language impairment across all domains of function

Intellectual disability. All individuals have some degree of intellectual impairment and/or learning disability ranging from borderline normal to moderate intellectual disability.

Family history. Because SRCAP-FHS is typically caused by a de novo pathogenic variant, most probands represent a simplex case (i.e., a single occurrence in a family). Rarely, the family history may be consistent with autosomal dominant inheritance (e.g., affected males and females in multiple generations).

Establishing the Diagnosis

The diagnosis of SRCAP-FHS is established in a proband with suggestive findings and a heterozygous pathogenic (or likely pathogenic) variant in SRCAP identified by molecular genetic testing (see Table 1).

Note: (1) Per ACMG/AMP 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 SRCAP variant of uncertain significance does not establish or rule out the diagnosis.

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

SRCAP-related Floating-Harbor syndrome (SRCAP-FHS) is characterized by typical craniofacial features; growth deficiency (low birth weight, normal head circumference, and proportionate short stature); bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, broad fingertips, clinodactyly, short thumbs, prominent joints, and clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior, present in many children, tend to improve in adulthood. To date, more than 100 individuals have been identified with SRCAP-FHS [Hood et al 2012, Le Goff et al 2013, Nikkel et al 2013, Dong et al 2014, Kehrer et al 2014, Nagasaki et a 2014, Seifert et al 2014, Amita et al 2016, Coughlin et al 2017, Singh et al 2017, Budisteanu et al 2018, Choi et al 2018, Milani et al 2018, Homma et al 2019, Li et al 2019, Shields et al 2019, Zhang et al 2019, Ko et al 2020, Singana et al 2020, Bo et al 2021, Ercoskun & Yuce-Kahraman 2021, Turkunova et al 2022, Yang et al 2023, Alanis et al 2024, Çetinkaya et al 2024, Dobrzynski et al 2024, Jeon et al 2024, Saeed & Alsayer 2024, He et al 2025]. The following description of the phenotypic features associated with this condition is based on these reports.

Craniofacial features. SRCAP-FHS is frequently recognized in early childhood because of the characteristic facial features including triangular face, deep-set eyes, short philtrum, wide mouth with thin vermilion of the upper lip, long nose with narrow bridge, broad base, broad tip, and low-hanging columella, and low-set ears (see Figure 1). The craniofacial features become more pronounced with age, especially the length of the nose and the width of the nasal tip.

Growth. The majority of individuals with SRCAP-FHS have low birth weight (range: 0-3 standard deviations [SD] below the mean for age and sex) and normal head circumference (range: 0-2 SD below the mean). In the first years of life, weight gain and linear growth are poor. Short stature is a cardinal sign of SRCAP-FHS. A significant delay in bone age is reported (≥2 SD below the mean), with normalization between ages six and 12 years. Average adult height is 140-155 cm.

Intellect. Although gross motor and fine motor milestones are within normal limits, affected individuals typically have mild-to-moderate intellectual disability. A disorder of speech and language is the most severe disability. Most aspects of communication are affected; expressive language is most consistently and severely affected. Dysarthria and verbal dyspraxia with phoneme imprecision are most common, with absent speech in some individuals. Voice is described as hypernasal and high-pitched. The majority of affected children receive mainstream education with individualized educational plans. Regression of skills is not typical in individuals with SRCAP-FHS.

Behavior. Many individuals with SRCAP-FHS have temperament and behavior differences and difficulties: temper tantrums in infancy and attention-deficit/hyperactivity disorder spectrum with impulsivity, inattention, and restlessness at school age. Aggressive and violent outbursts can occur. Obsessive-compulsive disorder and anxiety have been observed. Behavior problems are reported to improve in adulthood.

Puberty. Early puberty has been reported; data are insufficient to determine the incidence in either sex.

Eyes. Five of the described 105 individuals have been reported with hyperopia and eight of 13 with strabismus. Two individuals had anterior chamber abnormalities [Alanis et al 2024].

Hearing. Conductive hearing loss has been seen in 11 of the reported individuals with SRCAP-FHS. Cochlear abnormality has been observed in one individual.

Neurologic. Seizures have been observed in seven of the reported individuals.

Gastrointestinal. Reflux can be severe, requiring gastrostomy tube feeding in some. Constipation and colonic strictures have been observed. One individual had celiac disease; two had transient gluten intolerance.

Renal and genitourinary anomalies can occur and include hypospadias and undescended testes, epididymal cysts, varicocele, and posterior urethral valves in boys. Hydronephrosis / renal pelviectasis and nephrocalcinosis, renal cysts, and renal agenesis have been observed. One adult developed polycystic kidney disease and end-stage kidney disease.

Orthopedic. The body habitus is often stocky with a broad chest and short neck. Additional features include hand/digit anomalies such as clinodactyly, brachydactyly, short thumbs, and broad fingertips that give the appearance of clubbing (see Figure 2). Clavicular anomalies including pseudarthrosis and clavicular hypoplasia have been observed, as have short metacarpals, 11 pairs of ribs, kyphoscoliosis, prominent joints, dysplastic hips, and dislocated radial heads. Perthes disease has also been reported.

Dental. A number of individuals with SRCAP-FHS have dental problems (e.g., increased caries, microdontia, oligodontia, delayed loss of primary teeth) and orthodontic problems (e.g., maxillary retrusion and underbite).

Cardiac. Cardiac malformations are not usually a feature of SRCAP-FHS. Of the reported affected individuals, one had mild aortic coarctation, one had mesocardia with persistent left superior vena cava, two had atrial septal defect, and one had tetralogy of Fallot.

Genotype-Phenotype Correlations

Pathogenic variants in exons 33 and 34 of SRCAP that are predicted to cause truncation of the protein (removing three C-terminal AT-hook DNA-binding motifs while leaving the CBP-binding and ATPase domains intact) result in SRCAP-FHS.

Prevalence

The prevalence of SRCAP-FHS is not known. To date, 105 individuals with a heterozygous SRCAP pathogenic variant have been reported [Hood et al 2012, Le Goff et al 2013, Nikkel et al 2013, Dong et al 2014, Kehrer et al 2014, Nagasaki et a 2014, Seifert et al 2014, Amita et al 2016, Coughlin et al 2017, Singh et al 2017, Budisteanu et al 2018, Choi et al 2018, Milani et al 2018, Shields et al 2019].

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with SRCAP-FHS, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Treatment of Manifestations

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.

Evaluation of Relatives at Risk

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

Pregnancy Management

No specific pregnancy complications for the mother or the fetus have been observed in the two women with SRCAP pathogenic variants who had children with SRCAP-FHS.

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. Note: There may not be clinical trials for this disorder.

Mode of Inheritance

SRCAP-related Floating-Harbor syndrome (SRCAP-FHS) is an autosomal dominant disorder typically caused by a de novo pathogenic variant.

Risk to Family Members

Parents of a proband

• Most individuals with SRCAP-FHS have the disorder as the result of a de novo SRCAP pathogenic variant and represent simplex cases (i.e., a single occurrence in the family).
• Transmission of an SRCAP pathogenic variant from an affected mother to her child has been reported in two families to date [Nikkel et al 2013].
• Molecular genetic testing and clinical evaluation for signs of SRCAP-FHS are recommended for the parents of a proband with an apparent de novo pathogenic variant.
• If the proband appears to be the only affected family member, molecular genetic testing is recommended for the parents of the proband to evaluate their genetic status and inform recurrence risk assessment. Note: A proband may appear to be the only affected family member because of failure to recognize the disorder in a family member with a milder phenotype. Therefore, de novo occurrence of a SRCAP pathogenic variant in the proband cannot be confirmed unless molecular genetic testing has demonstrated that neither parent has the SRCAP pathogenic variant.
• 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.
• An advanced paternal age effect is suggested. In their series of 13 individuals with a heterozygous SRCAP pathogenic variant, Hood et al [2012] reported a mean paternal age of 36.9 years (range: 29-44 years).

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

• In the rare instance of a parent being affected and/or known to have the pathogenic variant identified in the proband, the risk to sibs of inheriting the pathogenic variant is 50%.
• If the SRCAP pathogenic variant identified in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is estimated to be 1% because of the possibility of parental gonadal mosaicism [Rahbari et al 2016].

Offspring of a proband. Each child of an individual with SRCAP-FHS has a 50% chance of inheriting the SRCAP 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 SRCAP pathogenic variant, 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 the parents of an affected child and to young adults who are affected.

Prenatal Testing and Preimplantation Genetic Testing

Once the SRCAP pathogenic variant has been identified in an affected family member, 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

SRCAP encodes helicase SRCAP, a nuclear protein that mediates different intracellular signaling pathways as well as chromatin remodeling. The encoded protein is an ATPase that is necessary for the incorporation of a histone variant into nucleosomes.

SRCAP functions as a transcriptional activator for CREB- and CBP-mediated transcription, along with Notch-mediated and steroid receptor-mediated transcription [Hood et al 2016]. Alteration in SRCAP has the potential for producing widespread target-gene dysregulation.

Mechanism of disease causation. Unknown. However, the non-random clustering of pathogenic variants (see Genotype-Phenotype Correlations) that predict truncated SRCAP strongly suggests a dominant-negative disease mechanism due to loss of one or more critical domain(s) – for instance, the three C-terminal AT-hook DNA-binding motifs (see Hood et al [2016] for details of SRCAP domains).

Revision History

• 10 April 2025 (sw) Comprehensive update posted live
• 23 May 2019 (sw) Comprehensive update posted live
• 29 November 2012 (me) Review posted live
• 26 June 2012 (mjmn) Original submission

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