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Floating-Harbor syndrome
1 OMIM reference -
1 associated gene
8 connected diseases
43 signs/symptoms
Disease Type of connection
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Synonym(s):
- Leisti-Hollister-Rimoin syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537062
Gene symbol UniProt reference OMIM reference
SRCAP Q6ZRS2611421
Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Broad nasal root
- Broad / bifid thumb
- Delayed bone age
- Long / large / bulbous nose
- Long / thick / curved lashes / trichomegaly / polytrichia
- Low set ears / posteriorly rotated ears
- Macrostomia / big mouth
- Restricted joint mobility / joint stiffness / ankylosis
- Short neck
- Short philtrum
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thick columella
- Thin / retracted lips

Frequent
- Camptodactyly of some fingers
- Clavicle absent / abnormal
- Clinodactyly of fifth finger
- Constipation
- Deepset eyes / enophthalmos
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hirsutism / hypertrichosis / Increased body hair
- Hyperextensible joints / articular hyperlaxity
- Immobile soft palate / soft palate anomaly
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Joint dislocation / subluxation
- Malabsorption / chronic diarrhea / steatorrhea
- Short hand / brachydactyly
- Thin / hypoplastic ala nasi
- Triangular face

Occasional
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Hyperactivity / attention deficit
- Micropenis / small penis / agenesis
- Motor deficit / trouble
- Strabismus / squint
- Telecanthus / canthal dystopy
- Thin / hypoplastic / hyperconvex fingernails
- Trigonocephaly
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis