Primrose syndrome

MONDO:0009798Mondo

Findings

No curated finding names Primrose syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

Definition from the Mondo Disease Ontology (MONDO:0009798), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal dominant inheritance
Onset and course: Congenital onset · Neonatal onset

Features

81 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Delayed speech and language developmentHPOHP:0000750
- 6 of 6 reported patients
Elevated circulating alpha-fetoprotein concentrationHPOHP:0006254
- 5 of 5 reported patients
Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
Broad foreheadHPOHP:0000337
- 7 of 8 reported patients
Deeply set eyeHPOHP:0000490
- 7 of 8 reported patients
Distal amyotrophyHPO

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

ZBTB20HGNC:13503
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022

Where it sits

A kind of: hereditary disease
syndromic disease

Other names

1 name

Resolves to: Primrose syndrome

Also called: intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Show the remaining 69

AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
Bone cystHPOHP:0012062
- Very frequent (80% to 99% of cases)
Calcification of the auricular cartilageHPOHP:0005103
- 8 of 14 reported patients
- Very frequent (80% to 99% of cases)
CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
Developmental regressionHPOHP:0002376
- Very frequent (80% to 99% of cases)
Flexion contractureHPOHP:0001371
- 5 of 7 reported patients
- Very frequent (80% to 99% of cases)
Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
Hip contractureHPOHP:0003273
- Very frequent (80% to 99% of cases)
HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
HypogonadismHPOHP:0000135
- Very frequent (80% to 99% of cases)
Intellectual disabilityHPOHP:0001249
- 5 of 8 reported patients
- Very frequent (80% to 99% of cases)
Irregular vertebral endplatesHPOHP:0003301
- Very frequent (80% to 99% of cases)
KyphosisHPOHP:0002808
- Very frequent (80% to 99% of cases)
MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
OsteolysisHPOHP:0002797
- Very frequent (80% to 99% of cases)
Posterior scalloping of vertebral bodiesHPOHP:0005121
- Very frequent (80% to 99% of cases)
ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
Downslanted palpebral fissuresHPOHP:0000494
- 11 of 14 reported patients
- Frequent (30% to 79% of cases)
HypotoniaHPOHP:0001252
- 11 of 14 reported patients
BrachycephalyHPOHP:0000248
- 6 of 8 reported patients
CryptorchidismHPOHP:0000028
- 3 of 4 reported patients
Increased size of the mandibleHPOHP:0040309
- 6 of 8 reported patients
Thick lower lip vermilionHPOHP:0000179
- 6 of 8 reported patients
PtosisHPOHP:0000508
- 10 of 14 reported patients
Hypoplasia of the corpus callosumHPOHP:0002079
- 5 of 8 reported patients
MacrocephalyHPOHP:0000256
- 5 of 8 reported patients
- 3 of 5 reported patients · Congenital onset
Reduced bone mineral densityHPOHP:0004349
- 5 of 8 reported patients
Truncal obesityHPOHP:0001956
- 5 of 8 reported patients
AnonychiaHPOHP:0001798
- Frequent (30% to 79% of cases)
Bilateral cryptorchidismHPOHP:0008689
- Frequent (30% to 79% of cases)
GynecomastiaHPOHP:0000771
- Frequent (30% to 79% of cases)
Midface retrusionHPOHP:0011800
- Frequent (30% to 79% of cases)
Narrow chestHPOHP:0000774
- Frequent (30% to 79% of cases)
Narrow iliac wingHPOHP:0002868
- Frequent (30% to 79% of cases)
Pectus excavatumHPOHP:0000767
- Frequent (30% to 79% of cases)
PlagiocephalyHPOHP:0001357
- Frequent (30% to 79% of cases)
SeizureHPOHP:0001250
- 0 of 6 reported patients
- Frequent (30% to 79% of cases)
Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
SynophrysHPOHP:0000664
- Frequent (30% to 79% of cases)
Delayed pubertyHPOHP:0000823
- 1 of 2 reported patients
Diabetes mellitusHPOHP:0000819
- 4 of 8 reported patients
Hip dysplasiaHPOHP:0001385
- 4 of 8 reported patients
Joint hypermobilityHPOHP:0001382
- 3 of 6 reported patients
Narrow mouthHPOHP:0000160
- 3 of 6 reported patients
Prominent foreheadHPOHP:0011220
- 3 of 6 reported patients
Self-injurious behaviorHPOHP:0100716
- 4 of 8 reported patients
StrabismusHPOHP:0000486
- 3 of 6 reported patients
VentriculomegalyHPOHP:0002119
- 3 of 6 reported patients
Motor stereotypyHPOHP:0000733
- 5 of 14 reported patients
Anteverted naresHPOHP:0000463
- 2 of 6 reported patients
AtaxiaHPOHP:0001251
- 2 of 6 reported patients
Downturned corners of mouthHPOHP:0002714
- 2 of 6 reported patients
HypothyroidismHPOHP:0000821
- 2 of 6 reported patients
AutismHPOHP:0000717
- 4 of 14 reported patients
Cerebral calcificationHPOHP:0002514
- 4 of 14 reported patients
Broad nasal tipHPOHP:0000455
- 2 of 8 reported patients
Torus palatinusHPOHP:0100789
- 2 of 8 reported patients
AnxietyHPOHP:0000739
- 3 of 14 reported patients
High palateHPOHP:0000218
- 1 of 6 reported patients
SchizophreniaHPOHP:0100753
- 1 of 6 reported patients
Skeletal muscle atrophyHPOHP:0003202
- 1 of 6 reported patients
Aggressive behaviorHPOHP:0000718
- 1 of 8 reported patients
TicsHPOHP:0100033
- 1 of 8 reported patients
Attention deficit hyperactivity disorderHPOHP:0007018
- 0 of 6 reported patients
Depressed nasal bridgeHPOHP:0005280
- 0 of 6 reported patients
HypertelorismHPOHP:0000316
- 0 of 6 reported patients
Sleep disturbanceHPOHP:0002360
- 0 of 6 reported patients
Wide nasal bridgeHPOHP:0000431
- 0 of 6 reported patients