Macrocephaly-spastic paraplegia-dysmorphism syndrome
Synonyms: Fryns macrocephaly
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrocephaly-spastic paraplegia-dysmorphism syndrome | Fryns macrocephaly |
| fr | Syndrome de macrocéphalie-paraplégie spastique-dysmorphie | Macrocéphalie de Fryns |
| de | Makrozephalie-spastische Paraplegie-Dysmorphien-Syndrom | Makrozephalie Typ Fryns |
| es | Síndrome de macrocefalia-paraplejía espástica-dismorfia | Macrocefalia de Fryns |
| it | Macrocefalia - paraplegia spastica - dismorfismi | Macrocefalia di Fryns |
| nl | Macrocefalie - spastische paraplegie - dysmorfie-syndroom | Fryns-macrocefalie |
| pt | Síndrome de macrocefalia-paraplegia espástica-dismorfia | Macrocefalia de Fryns |
| pl | Makrocefalia - paraplegia spastyczna - dysmorfizm | Makrocefalia Frynsa |
| cs | Syndrom zahrnující makrocefalii, spastickou paraplegii a dysmorfismus | Frynsova makrocefalie |
| uk | Синдром макроцефалії-спастичної параплегії-дисморфізму | Макроцефалія Фрайнів |
| zh | 巨头畸型-痉挛性截瘫-畸形综合征 | Fryns巨头畸形 |
| tr | Makrosefali-spastik parapleji-dismorfizm sendromu | Fryns makrosefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600302 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010858 | E | validated | |
| MeSH | C563963 | E | validated | |
| UMLS | C1838281 | 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):
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:320346Pure or complex autosomal recessive spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000337 | Broad forehead | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0000280 | Coarse facial features | |
| HP:0000490 | Deeply set eye | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001288 | Gait disturbance | |
| HP:0000348 | High forehead | |
| HP:0001347 | Hyperreflexia | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0000322 | Short philtrum | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001956 | Truncal obesity | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0002808 | Kyphosis | |
| HP:0002162 | Low posterior hairline | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002650 | Scoliosis | |
| HP:0003196 | Short nose | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0100874 | Thick hair | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2429
- This record as JSON: /data/d/2429.json