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Coffin-Lowry syndrome
1 OMIM reference -
1 associated gene
33 connected diseases
68 signs/symptoms
Disease Type of connection
X-linked non-syndromic intellectual deficit
Giant cell glioblastoma
Gliosarcoma
Distal 22q11.2 microdeletion syndrome
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Estrogen resistance syndrome
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Septo-optic dysplasia
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
Melanoma of soft part
Peutz-Jeghers syndrome
Craniofacial-ulnar-renal syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Intellectual deficit, X-linked, Snyder type
Autosomal dominant nonsyndromic intellectual deficit
Hypohidrotic ectodermal dysplasia with immunodeficiency
Synonym(s):
- CLS
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
1 MeSH reference: D038921
Gene symbol UniProt reference OMIM reference
RPS6KA3 P51812300075
Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Anteverted nares / nostrils
- Coarse face
- Delayed bone age
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Depressed nasal bridge
- Diaphyseal anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- Everted lower lip
- Flared / thick ala nasi
- Frontal bossing / prominent forehead
- Hyperextensible joints / articular hyperlaxity
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Large hand
- Mouth held open
- Pectus carinatum
- Pectus excavatum
- Protruding lips
- Scoliosis
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tapered fingers
- Thick lips
- Thick / dowel fingers
- Tooth shape anomaly

Frequent
- Abnormal gait
- Absent / small fingernails / anonychia of hands
- Broad nose / nasal bridge
- Dilated cerebral ventricles without hydrocephaly
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Flat foot
- High vaulted / narrow palate
- Hypertonia / spasticity / rigidity / stiffness
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Loose skin / skin relaxation / excess skin / creases
- Macrostomia / big mouth
- Metacarpal anomalies / Archibald's sign
- Microcephaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Prominent / bat ears
- Terminal / third phalangeal bone of fingers hypoplasia

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Apnea / sleep apnea
- Auto-aggressivity / auto-mutilation
- Blepharitis / eyelid inflammation
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Early death in adulthood
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Premature eruption of teeth / natal teeth
- Retinitis pigmentosa / retinal pigmentary changes
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Tricuspid valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly