ORPHA:192

Coffin-Lowry syndrome

Synonyms: CLS

Type: Malformation syndrome
Group: Disorder
Inheritance: X-linked dominant
Age of onset: Childhood, Infancy, Neonatal
Status: active

A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and <i>pectus carinatum/excavatum</i>. Intellectual disability ranges from mild to severe.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Coffin-Lowry syndrome	CLS
fr	Syndrome de Coffin-Lowry	= en
de	Coffin-Lowry-Syndrom	= en
es	Síndrome de Coffin-Lowry	= en
it	Sindrome di Coffin-Lowry	= en
nl	Syndroom van Coffin-Lowry	= en
pt	Síndrome Coffin-Lowry
pl	Zespół Coffina i Lowry'ego	= en
cs	Coffinův-Lowryho syndrom	CLS · Coffin-Lowryho syndrom
uk	Синдром Коффіна-Лоурі	= en
zh	Coffin-Lowry综合征	= en
tr	Tabut-Lowry sendromu	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	303600	E		validated
ICD-10	Q87.0	NTBT	attributed	validated
ICD-11	LD2F.1Y	NTBT	index	validated
MONDO	0010561	E		validated
MeSH	D038921	E		validated
UMLS	C0265252	E		validated
GARD	6123	E		validated
MedDRA	10081806	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (3):

ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
RPS6KA3	Disease-causing germline mutation(s) in	Assessed	HGNC:10432	ENSG00000177189	300075	Xp22.12	ribosomal protein S6 kinase A3	20301520[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 100 000	1.5 / 100 000	Worldwide	Value and class	Not yet validated	19888300[PMID]
Point prevalence	1-9 / 100 000	1.5 / 100 000	Europe	Value and class	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

81 annotations · validated 2024-04-18

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0006482	Abnormal dental morphology
HP:0000940	Abnormal diaphysis morphology
HP:0003312	Abnormal form of the vertebral bodies
HP:0002167	Abnormality of speech or vocalization
HP:0000463	Anteverted nares
HP:0001500	Broad finger
HP:0000280	Coarse facial features
HP:0004493	Craniofacial hyperostosis
HP:0002750	Delayed skeletal maturation
HP:0005280	Depressed nasal bridge
HP:0000494	Downslanted palpebral fissures
HP:0000286	Epicanthus
HP:0000232	Everted lower lip vermilion
HP:0002007	Frontal bossing
HP:0000316	Hypertelorism
HP:0000668	Hypodontia
HP:0001252	Hypotonia
HP:0001249	Intellectual disability
HP:0001382	Joint hypermobility
HP:0002808	Kyphosis
HP:0001176	Large hands
HP:0000194	Open mouth
HP:0000768	Pectus carinatum
HP:0000767	Pectus excavatum
HP:0002650	Scoliosis
HP:0011344	Severe global developmental delay
HP:0004322	Short stature
HP:0001182	Tapered finger
HP:0000179	Thick lower lip vermilion
HP:0009928	Thick nasal alae
HP:0000687	Widely spaced teeth
Frequent (79-30%)
HP:0011065	Conical incisor
HP:0008872	Feeding difficulties in infancy
HP:0001288	Gait disturbance
HP:0000218	High palate
HP:0001812	Hyperconvex fingernails
HP:0001276	Hypertonia
HP:0000327	Hypoplasia of the maxilla
HP:0001804	Hypoplastic fingernail
HP:0000252	Microcephaly
HP:0002868	Narrow iliac wings
HP:0000189	Narrow palate
HP:0001763	Pes planus
HP:0008897	Postnatal growth retardation
HP:0006480	Premature loss of teeth
HP:0002191	Progressive spasticity
HP:0011220	Prominent forehead
HP:0000411	Protruding ear
HP:0009193	Pseudoepiphyses of the metacarpals
HP:0001582	Redundant skin
HP:0011580	Short chordae tendineae of the mitral valve
HP:0006692	Short chordae tendineae of the tricuspid valve
HP:0009882	Short distal phalanx of finger
HP:0010049	Short metacarpal
HP:0002119	Ventriculomegaly
HP:0000154	Wide mouth
HP:0000445	Wide nose
Occasional (29-5%)
HP:0001646	Abnormal aortic valve morphology
HP:0001633	Abnormal mitral valve morphology
HP:0001702	Abnormal tricuspid valve morphology
HP:0002269	Abnormality of neuronal migration
HP:0007703	Abnormality of retinal pigmentation
HP:0006288	Advanced eruption of teeth
HP:0007360	Aplasia/Hypoplasia of the cerebellum
HP:0007370	Aplasia/Hypoplasia of the corpus callosum
HP:0010819	Atonic seizure
HP:0000708	Atypical behavior
HP:0001638	Cardiomyopathy
HP:0000518	Cataract
HP:0002120	Cerebral cortical atrophy
HP:0000684	Delayed eruption of teeth
HP:0002711	Exaggerated median tongue furrow
HP:0000023	Inguinal hernia
HP:0001324	Muscle weakness
HP:0000648	Optic atrophy
HP:0001250	Seizure
HP:0100716	Self-injurious behavior
HP:0000407	Sensorineural hearing impairment
HP:0003202	Skeletal muscle atrophy
HP:0010535	Sleep apnea
HP:0000486	Strabismus

Run the differential on the 12 obligate / very frequent terms

Annotation source: 20301520[PMID]_12362025[PMID]_19888300[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/192
This record as JSON: /data/d/192.json