ORPHA:1159

Progressive pseudorheumatoid dysplasia

Synonyms: PPD · Progressive pseudorheumatoid arthropathy of childhood · Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Childhood
Status: active

A rare spondyloepiphyseal dysplasia (SED) characterized by an association with progressive arthropathy.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Progressive pseudorheumatoid dysplasia	PPD · Progressive pseudorheumatoid arthropathy of childhood · Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
fr	Dysplasie pseudorhumatoïde progressive	Arthropathie pseudorhumatoïde progressive infantile · DPP
de	Progressive pseudorheumatoide Dysplasie	PPD · Progressive pseudorheumatoide Arthropathie im Kindesalter · Spondyloepiphysäre Dysplasie Tarda-progressive Arthropathie-Syndrom
es	Displasia pseudorreumatoide progresiva	Artropatía pseudorreumatoide progresiva de la infancia · Síndrome de displasia espondiloepifisaria tardía-artropatía progresiva
it	Displasia pseudoreumatoide progressiva	Sindrome displasia spondiloepifisaria tarda-artropatia progressiva · PPD · Artropatia pseudoreumatoide progressiva dell'infanzia
nl	Progressieve pseudoreumatoïde dysplasie	PPD · Progressieve pseudoreumatoïde artropathie op kinderleeftijd · Spondylo-epifysaire dysplasia tarda - progressieve artropathie-syndroom
pt	Displasia pseudoreumatoide progressiva	Artropatia progressiva pseudo-reumatóide da infância · PPD · Síndrome de displasia espondiloepifisária tarda-artropatia progressiva
pl	Postępująca pseudoreumatoidalna artropatia dziecięca	Dysplazja kręgosłupowo-nasadowa z postępującą artropatią
cs	Progresivní pseudorevmatoidní artropatie u dětí	Syndrom zahrnující pozdní spondyloepifyzární dysplázii a progresivní artropatii
uk	Прогресуюча псевдоревматоїдна артропатія дитячого віку	Спондилоепіфізарна дисплазія та синдром пізньопрогресуючої артропатії
zh	儿童进行性假类风湿性关节炎	脊柱骺发育不良迟缓-进展性关节病综合征
tr	Çocukluk çağı ilerleyici psödoromatoid artropatisi	Spondiloepifizeal displazi tarda-ilerleyici artropati sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	208230	E		validated
ICD-10	Q77.7	NTBT	attributed	validated
ICD-11	LD24.3	NTBT	index	validated
MONDO	0008827	E		validated
MeSH	C535387	E		validated
UMLS	C0432215	E		validated
GARD	9184	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:93419Rare bone disease

Parents in the classifications (2):

ORPHA:498445Genetic inflammatory or rheumatoid-like osteoarthropathy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:2654Syndesmodysplasic dwarfism moved to · inactive

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CCN6	Disease-causing germline mutation(s) in	Assessed	HGNC:12771	ENSG00000112761	603400	6q21	cellular communication network factor 6	10471507[PMID]_22987568[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	—	Europe	Class only	Not yet 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

45 annotations · validated 2021-06-18

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003301	Irregular vertebral endplates
HP:0001386	Joint swelling
HP:0004267	Narrow small joints of the hand
HP:0000926	Platyspondyly
HP:0005195	Polyarticular arthropathy
HP:0002655	Spondyloepiphyseal dysplasia
HP:0002515	Waddling gait
Frequent (79-30%)
HP:0006256	Abnormality of hand joint mobility
HP:0009811	Abnormality of the elbow
HP:0001384	Abnormality of the hip joint
HP:0002815	Abnormality of the knee
HP:0002829	Arthralgia
HP:0012385	Camptodactyly
HP:0003388	Easy fatigability
HP:0004603	Hyperconvex vertebral body endplates
HP:0011406	Infancy onset short-trunk short stature
HP:0004582	Irregularity of vertebral bodies
HP:0009473	Joint contracture of the hand
HP:0001376	Limitation of joint mobility
HP:0001324	Muscle weakness
HP:0002650	Scoliosis
HP:0004322	Short stature
HP:0003423	Thoracolumbar kyphoscoliosis
HP:0008422	Vertebral wedging
HP:0001225	Wrist swelling
Occasional (29-5%)
HP:0002867	Abnormality of the ilium
HP:0000464	Abnormality of the neck
HP:0003043	Abnormality of the shoulder
HP:0004568	Beaking of vertebral bodies
HP:0006429	Broad femoral neck
HP:0002812	Coxa vara
HP:0010580	Enlarged epiphyses
HP:0006247	Enlarged interphalangeal joints
HP:0003371	Enlargement of the proximal femoral epiphysis
HP:0003370	Flat capital femoral epiphysis
HP:0040160	Generalized osteoporosis
HP:0002857	Genu valgum
HP:0002970	Genu varum
HP:0003307	Hyperlordosis
HP:0008833	Irregular acetabular roof
HP:0025477	Periarticular calcification
HP:0100864	Short femoral neck
Excluded (0%)
HP:0032436	Abnormal C-reactive protein level
HP:0025021	Abnormal erythrocyte sedimentation rate
HP:0002923	Rheumatoid factor positive

Run the differential on the 7 obligate / very frequent terms

Annotation source: 21993478[PMID]_26610319[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/1159
This record as JSON: /data/d/1159.json