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Floating-Harbor syndrome(FLHS)

MedGen UID:
152667
Concept ID:
C0729582
Disease or Syndrome
Synonyms: FLHS; Floating Harbor Syndrome; Pelletier-Leisti syndrome; Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Floating-Harbor syndrome (312214005)
 
Gene: SRCAP
Cytogenetic location: 16p11.2
OMIM: 136140

Disease characteristics

Excerpted from the GeneReview: Floating-Harbor Syndrome
Floating-Harbor syndrome (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, clubbing, clinodactyly, short thumbs, prominent joints, 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 that are 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). [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Malgorzata JM Nowaczyk  |  Sarah M Nikkel  |  Susan M White   view full author information

Additional descriptions

From OMIM
Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips (Lacombe et al., 1995). Rubinstein-Taybi syndrome (see 180849), which shows phenotypic overlap with Floating-Harbor syndrome, is caused by mutation in the CREBBP gene (600140), for which SRCAP is a coactivator.  http://www.omim.org/entry/136140
From GHR
Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California. Growth deficiency in people with Floating-Harbor syndrome generally becomes apparent in the first year of life, and affected individuals are usually among the shortest 5 percent of their age group. Bone age is delayed in early childhood; for example, an affected 3-year-old child may have bones more typical of a child of 2. However, bone age is usually normal by age 6 to 12. Delay in speech development (expressive language delay) may be severe in Floating-Harbor syndrome, and language impairment can lead to problems in verbal communication. Most affected individuals also have mild intellectual disability. Their development of motor skills, such as sitting and crawling, is similar to that of other children their age. Typical facial features in people with Floating-Harbor syndrome include a triangular face; a low hairline; deep-set eyes; long eyelashes; a large, distinctive nose with a low-hanging separation (overhanging columella) between large nostrils; a shortened distance between the nose and upper lip (a short philtrum); and thin lips. As affected children grow and mature, the nose becomes more prominent. Additional features that have occurred in some affected individuals include short fingers and toes (brachydactyly); widened and rounded tips of the fingers (clubbing); curved pinky fingers (fifth finger clinodactyly); an unusually high-pitched voice; and, in males, undescended testes (cryptorchidism).  http://ghr.nlm.nih.gov/condition/floating-harbor-syndrome

Clinical features

Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Hypospadias
MedGen UID:
504317
Concept ID:
CN000047
Finding
Displacement of the urethral opening on the ventral (inferior) surface of the penis.
Nephrocalcinosis
MedGen UID:
504348
Concept ID:
CN000117
Finding
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Hydronephrosis
MedGen UID:
504353
Concept ID:
CN000122
Finding
Severe distention of the kidney with dilation of the renal pelvis and calices.
Abnormality of the urethra
MedGen UID:
446378
Concept ID:
CN000743
Finding
An abnormality of the `urethra` (FMA:19667), i.e., of the tube which connects the urinary bladder to the outside of the body.
Congenital posterior urethral valve
MedGen UID:
506422
Concept ID:
CN116690
Finding
A developmental defect resulting in an obstructing membrane in the posterior male urethra.
Varicocele
MedGen UID:
786427
Concept ID:
CN188792
Finding
A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.
Wide mouth
MedGen UID:
504368
Concept ID:
CN000150
Finding
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Thin vermilion border
MedGen UID:
504403
Concept ID:
CN000225
Finding
Reduced width of the \
Trigonocephaly
MedGen UID:
504405
Concept ID:
CN000235
Finding
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
Smooth philtrum
MedGen UID:
500885
Concept ID:
CN000299
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Underdeveloped nasal alae
MedGen UID:
507330
Concept ID:
CN000403
Finding
Thinned, deficient, or excessively arched `ala nasi` (FMA:59519).
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Prominent nose
MedGen UID:
504445
Concept ID:
CN000419
Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical.
Abnormality of the eyelashes
MedGen UID:
446361
Concept ID:
CN000467
Finding
An abnormality of the `eyelashes` (FMA:53669).
Abnormality of the soft palate
MedGen UID:
451986
Concept ID:
CN117627
Finding
An abnormality of the `soft palate` (FMA:55021).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical.
Hypermetropia
MedGen UID:
504484
Concept ID:
CN000506
Finding
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Conductive hearing impairment
MedGen UID:
504435
Concept ID:
CN000378
Finding
An abnormality of `vibrational conductance of sound to the inner ear` (GO:0055127) leading to impairment of `sensory perception of sound` (GO:0007605).
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Trigonocephaly
MedGen UID:
504405
Concept ID:
CN000235
Finding
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
Abnormality of the clavicles
MedGen UID:
425018
Concept ID:
CN000834
Finding
Any abnormality of the clavicles (collar bones).
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Joint dislocation
MedGen UID:
504818
Concept ID:
CN001258
Finding
Displacement or malalignment of joints.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Joint laxity
MedGen UID:
504825
Concept ID:
CN001270
Finding
Lack of stability of a joint.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger).
Abnormality of thumb phalanx
MedGen UID:
447087
Concept ID:
CN008467
Finding
A structural anomaly of one or more phalanges of the thumb.
Cone-shaped epiphyses of the phalanges of the hand
MedGen UID:
447221
Concept ID:
CN009062
Finding
A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Finding
A disorder characterized by the presence of excessive hair growth in women in anatomic sites where growth is considered to be a secondary male characteristic (beard, moustache, chest, abdomen), where hair growth is under androgen control.
Abnormality of the eyelashes
MedGen UID:
446361
Concept ID:
CN000467
Finding
An abnormality of the `eyelashes` (FMA:53669).
Abnormality of the fingernails
MedGen UID:
446395
Concept ID:
CN001134
Finding
An abnormality of the `fingernails` (FMA:54327).
Abnormality of the voice
MedGen UID:
425062
Concept ID:
CN001464
Finding
Any abnormality of the voice.
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the `interatrial septum` (FMA:7108) that enables blood flow between the left and right atria via the interatrial septum.
Malformation of the heart and great vessels
MedGen UID:
428300
Concept ID:
CN002327
Finding
Congenital malformation of the heart or great vessels (i.e., the large blood vesslesentering and leaving the heart: aorta, the pulmonary arteries and veins, and the superior and inferior vena cava).
Mesocardia
MedGen UID:
506592
Concept ID:
CN167327
Finding
Mesocardia is a abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.
Abnormality of immune system physiology
MedGen UID:
451258
Concept ID:
CN116711
Finding
A functional abnormality of the `immune system` (FMA:9825).
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGFloating-Harbor syndrome

Recent clinical studies

Etiology

Feingold M
Am J Med Genet A 2006 Apr 1;140(7):782-4. doi: 10.1002/ajmg.a.31159. PMID: 16523514
Ala-Mello S, Peippo M
Am J Med Genet A 2004 Oct 15;130A(3):317-9. doi: 10.1002/ajmg.a.30303. PMID: 15378536

Diagnosis

Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, Odent S, Nitschke P, Munnich A, Faivre L, Cormier-Daire V
Hum Mutat 2013 Jan;34(1):88-92. Epub 2012 Oct 16 doi: 10.1002/humu.22216. [Epub ahead of print] PMID: 22965468
Reschen M, Kini U, Hood RL, Boycott KM, Hurst J, O'Callaghan CA
Am J Med Genet A 2012 Dec;158A(12):3196-200. Epub 2012 Nov 19 doi: 10.1002/ajmg.a.35635. [Epub ahead of print] PMID: 23165645
García RJ, Kant SG, Wit JM, Mericq V
J Pediatr Endocrinol Metab 2012;25(1-2):207-12. PMID: 22570979
Pouliquen D, Goldenberg A, Hannequin D, Lecointre C, Lechevallier J, Cormier-Daire V, Martinaud O
J Clin Exp Neuropsychol 2012;34(5):445-52. Epub 2012 Jan 23 doi: 10.1080/13803395.2011.646958. [Epub ahead of print] PMID: 22263687
Lopez E, Callier P, Cormier-Daire V, Lacombe D, Moncla A, Bottani A, Lambert S, Goldenberg A, Doray B, Odent S, Sanlaville D, Gueneau L, Duplomb L, Huet F, Aral B, Thauvin-Robinet C, Faivre L
Am J Med Genet A 2012 Feb;158A(2):333-9. Epub 2012 Jan 13 doi: 10.1002/ajmg.a.34401. [Epub ahead of print] PMID: 22247066

Therapy

García RJ, Kant SG, Wit JM, Mericq V
J Pediatr Endocrinol Metab 2012;25(1-2):207-12. PMID: 22570979
Galli-Tsinopoulou A, Kyrgios I, Emmanouilidou E, Maggana I, Kotanidou E, Kokka P, Stylianou C
Hormones (Athens) 2011 Jul-Sep;10(3):236-40. PMID: 22001135
Stagi S, Galluzzi F, Bindi G, Lapi E, Cecchi C, Salti R, Chiarelli F
J Pediatr Endocrinol Metab 2007 Dec;20(12):1333-7. PMID: 18341094
Wiltshire E, Wickremesekera A, Dixon J
Am J Med Genet A 2005 Jul 1;136(1):81-3. doi: 10.1002/ajmg.a.30760. PMID: 15889416
Cannavò S, Bartolone L, Lapa D, Venturino M, Almoto B, Violi A, Trimarchi F
J Endocrinol Invest 2002 Jan;25(1):58-64. PMID: 11883867

Prognosis

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM
Am J Hum Genet 2012 Feb 10;90(2):308-13. Epub 2012 Jan 19 doi: 10.1016/j.ajhg.2011.12.001. [Epub ahead of print] PMID: 22265015Free PMC Article
Lopez E, Callier P, Cormier-Daire V, Lacombe D, Moncla A, Bottani A, Lambert S, Goldenberg A, Doray B, Odent S, Sanlaville D, Gueneau L, Duplomb L, Huet F, Aral B, Thauvin-Robinet C, Faivre L
Am J Med Genet A 2012 Feb;158A(2):333-9. Epub 2012 Jan 13 doi: 10.1002/ajmg.a.34401. [Epub ahead of print] PMID: 22247066
Feingold M
Am J Med Genet A 2006 Apr 1;140(7):782-4. doi: 10.1002/ajmg.a.31159. PMID: 16523514
Ala-Mello S, Peippo M
Am J Med Genet A 2004 Oct 15;130A(3):317-9. doi: 10.1002/ajmg.a.30303. PMID: 15378536

Clinical prediction guides

Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, Odent S, Nitschke P, Munnich A, Faivre L, Cormier-Daire V
Hum Mutat 2013 Jan;34(1):88-92. Epub 2012 Oct 16 doi: 10.1002/humu.22216. [Epub ahead of print] PMID: 22965468
García RJ, Kant SG, Wit JM, Mericq V
J Pediatr Endocrinol Metab 2012;25(1-2):207-12. PMID: 22570979
Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM
Am J Hum Genet 2012 Feb 10;90(2):308-13. Epub 2012 Jan 19 doi: 10.1016/j.ajhg.2011.12.001. [Epub ahead of print] PMID: 22265015Free PMC Article
Lopez E, Callier P, Cormier-Daire V, Lacombe D, Moncla A, Bottani A, Lambert S, Goldenberg A, Doray B, Odent S, Sanlaville D, Gueneau L, Duplomb L, Huet F, Aral B, Thauvin-Robinet C, Faivre L
Am J Med Genet A 2012 Feb;158A(2):333-9. Epub 2012 Jan 13 doi: 10.1002/ajmg.a.34401. [Epub ahead of print] PMID: 22247066
Nelson RA, McNamara M, Ellis W, Stein-Wexler R, Moghaddam B, Zwerdling T
Am J Med Genet A 2009 Oct;149A(10):2265-9. doi: 10.1002/ajmg.a.33014. PMID: 19764022

Recent systematic reviews

Ala-Mello S, Peippo M
Am J Med Genet A 2004 Oct 15;130A(3):317-9. doi: 10.1002/ajmg.a.30303. PMID: 15378536

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