Floating-Harbor syndrome

A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.



Input patient's signs and symptoms


Narrow down the case reports



Total: 39 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(64.7%)		 11883867
 Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome.
Cannavo S, Bartolone L, Lapa D, Venturino M, Almoto B, Violi A, Trimarchi F.
J Endocrinol Invest. 2002;25(1):58-64.
Short philtrum Short neck Long eyelashes Clinodactyly of the 5th finger
HIRA IGF1
Body Height Child Craniofacial Abnormalities Females Growth Disorders Growth Hormone Homo sapiens Human Growth Hormone Recombinant Proteins Speech Disorders Syndrome
2
(61.3%)		 2309787
 A "new" skeletal dysplasia in two unrelated boys.
Saul RA, Wilson WG.
Am J Med Genet. 1990;35(3):388-93.
Brachydactyly Frontal bossing Hypoplasia of the odontoid process
Bone Diseases, Developmental Child Growth Disorders Homo sapiens Male Syndrome
3
(59.4%)		 2029915
 The Floating-Harbor syndrome.
Majewski F, Lenard HG.
Eur J Pediatr. 1991;150(4):250-2.
Short upper lip Long eyelashes Clinodactyly
Child Differential Diagnosis Eye Abnormalities Females Fetal Growth Retardation Fingers Growth Disorders Hirsutism Homo sapiens Intellectual Disability Mouth Abnormalities Nose Syndrome
4
(56.1%)		 27465822
 Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M.
Clin Dysmorphol. 2016;25(4):135-45.
Microcephaly Broad thumb
CREBBP EP300
rs1057517732 rs1555905780 rs1555907094 rs1555907278 rs1555907749 rs1555910821 rs1555911098 rs1555911313 rs1555911580 rs1555912112 rs1555912151 rs199650847
Amino Acid Sequence Child Child, Preschool E1A-Associated p300 Protein Facies Females Genetic Association Studies Genotype Homo sapiens Male Mutation Phenotype Rubinstein-Taybi Syndrome Sequence Analysis, DNA Young Adult
5
(54.9%)		 29383823
 Perthes disease: A new finding in Floating-Harbor syndrome.
Milani D, Scuvera G, Gatti M, Tolva G, Bonarrigo F, Esposito S, Gervasini C.
Am J Med Genet A. 2018;176(3):703-706.
Triangular face Broad thumb
CREBBP SMARCA4 SRCAP
Adenosine Triphosphatases Alleles Child, Preschool Craniofacial Abnormalities DNA Mutational Analysis Differential Diagnosis Facies Females Fluorescent in Situ Hybridization Genetic Association Studies Genetic Predisposition to Disease Growth Disorders Homo sapiens Legg-Calve-Perthes Disease Mutation Phenotype Rubinstein-Taybi Syndrome Ventricular Septal Defects
6
(49.1%)		 29210485
 A novel finding of oligodontia and ankyloglossia in a 14-year-old with Floating-Harbor syndrome.
Singh A, Bhatia HP, Sood S, Sharma N, Mohan A.
Spec Care Dentist. 2017;37(6):318-321.
Ankyloglossia Clinodactyly
Ankyloglossia Craniofacial Abnormalities Growth Disorders Homo sapiens Male Panoramic Radiography Ventricular Septal Defects
7
(43.9%)		 8657512
 [Floating-Harbor syndrome in a girl with somatic asymmetry].
Midro AT, Rogowska M, Hubert E, Hassman-Poznanska E, Popko J.
Pediatr Pol. 1995;70(9):775-8.
Triangular face Narrow jaw
Age Determination by Skeleton Bone Diseases, Developmental Females Homo sapiens Intellectual Disability Language Development Disorders Male Phenotype Syndrome
8
(40.2%)		 9508066
 Changing phenotype in Floating-Harbor syndrome.
Hersh JH, Groom KR, Yen FF, Verdi GD.
Am J Med Genet. 1998;76(1):58-61.
Trigonocephaly Bulbous nose
Age Factors Child Craniofacial Abnormalities Females Growth Disorders Homo sapiens Intellectual Disability Phenotype Speech Disorders Syndrome
9
(40.0%)		 11746027
 Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other.
Wieczorek D, Wusthof A, Harms E, Meinecke P.
Am J Med Genet. 2001;104(1):47-52.
Brachydactyly Broad thumb
GH1
Child Craniofacial Abnormalities Females Growth Growth Disorders Growth Hormone Homo sapiens Speech Disorders Syndrome
10
(39.0%)		 15119008
 First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly.
Selimoglu MA, Selimoglu E, Ertekin V, Caner I, Orbak Z.
Yonsei Med J. 2004;45(2):334-6.
Microcephaly
Child Cryptorchidism Homo sapiens Male Microcephaly Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 47

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000414 Bulbous nose Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000448 Prominent nose Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000527 Long eyelashes Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0001608 Abnormality of the voice Very frequent (99-80%)
HP:0001611 Nasal speech Very frequent (99-80%)
HP:0001620 High pitched voice Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0002474 Expressive language delay Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0010761 Broad columella Very frequent (99-80%)
HP:0011304 Broad thumb Very frequent (99-80%)
HP:0000325 Triangular face Frequent (79-30%)
HP:0000403 Recurrent otitis media Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000490 Deeply set eye Frequent (79-30%)
HP:0000889 Abnormality of the clavicle Frequent (79-30%)
HP:0000894 Short clavicles Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0002019 Constipation Frequent (79-30%)
HP:0002024 Malabsorption Frequent (79-30%)
HP:0002230 Generalized hirsutism Frequent (79-30%)
HP:0003037 Enlarged joints Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0006585 Congenital pseudoarthrosis of the clavicle Frequent (79-30%)
HP:0008872 Feeding difficulties in infancy Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0100736 Abnormal soft palate morphology Frequent (79-30%)
HP:0000243 Trigonocephaly Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000506 Telecanthus Occasional (29-5%)
HP:0001231 Abnormal fingernail morphology Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0007058 Generalized cerebral atrophy/hypoplasia Occasional (29-5%)
HP:0008736 Hypoplasia of penis Occasional (29-5%)
HP:0010957 Congenital posterior urethral valve Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 20

HPO ID Term # of case reports
HP:0004322 Short stature 20
HP:0000325 Triangular face 3
HP:0000414 Bulbous nose 2
HP:0000448 Prominent nose 2
HP:0000243 Trigonocephaly 1
HP:0000252 Microcephaly 1
HP:0000490 Deeply set eye 1
HP:0000601 Hypotelorism 1
HP:0000822 Hypertension 1
HP:0000824 Growth hormone deficiency 1
HP:0002144 Tethered cord 1
HP:0002463 Language impairment 1
HP:0002474 Expressive language delay 1
HP:0003502 Mild short stature 1
HP:0003508 Proportionate short stature 1
HP:0004467 Preauricular pit 1
HP:0008897 Postnatal growth retardation 1
HP:0010296 Ankyloglossia 1
HP:0012801 Narrow jaw 1
HP:0100336 Bilateral cleft lip 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SRCAP Snf2 related CREBBP activator protein 10847