Temple-Baraitser syndrome

MONDO:0012735Mondo

Findings

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

A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

Definition from the Mondo Disease Ontology (MONDO:0012735), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal dominant inheritance
Onset and course: Infantile onset

Features

61 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.

Adducted thumbHPOHP:0001181
- 6 of 6 reported patients
Depressed nasal bridgeHPOHP:0005280
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
Downturned corners of mouthHPOHP:0002714
- 6 of 6 reported patients
HypotoniaHPOHP:0001252
- 6 of 6 reported patients
Long halluxHPOHP:0001847
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
Long philtrum

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.

KCNH1HGNC:6250
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: KCNH1 associated disorder

Other names

2 names

Resolves to: Temple-Baraitser syndrome

Also called: severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndromeTMBTS

Show the remaining 49

Absent nail of halluxHPOHP:0012555
- 5 of 6 reported patients
- Occasional (5% to 29% of cases)
Broad thumbHPOHP:0011304
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
HypertelorismHPOHP:0000316
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
Short columellaHPOHP:0002000
- 5 of 6 reported patients
Short distal phalanx of fingerHPOHP:0009882
- 5 of 6 reported patients
- Occasional (5% to 29% of cases)
Hypoplastic thumbnailHPOHP:0012553
- 4 of 6 reported patients
- Occasional (5% to 29% of cases)
Pseudoepiphysis of the thumbHPOHP:0009693
- 4 of 6 reported patients
Abnormal brain morphologyHPOHP:0012443
- Frequent (30% to 79% of cases)
Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
Aplastic/hypoplastic toenailHPOHP:0010624
- Frequent (30% to 79% of cases)
Bilateral ptosisHPOHP:0001488
- Frequent (30% to 79% of cases)
Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
ConstipationHPOHP:0002019
- 2 of 5 reported patients
- Frequent (30% to 79% of cases)
Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
EpicanthusHPOHP:0000286
- 3 of 6 reported patients
- Frequent (30% to 79% of cases)
Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
Long eyelashesHPOHP:0000527
- Frequent (30% to 79% of cases)
MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
Severe global developmental delayHPOHP:0011344
- Frequent (30% to 79% of cases)
Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Thick eyebrowHPOHP:0000574
- Frequent (30% to 79% of cases)
Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
Wide noseHPOHP:0000445
- Frequent (30% to 79% of cases)
Atrial septal defectHPOHP:0001631
- 1 of 2 reported patients
Pulmonic stenosisHPOHP:0001642
- 1 of 2 reported patients
Absent toenailHPOHP:0001802
- Occasional (5% to 29% of cases)
Anteverted naresHPOHP:0000463
- Occasional (5% to 29% of cases)
Delayed phalangeal epiphyseal ossificationHPOHP:0006016
- Occasional (5% to 29% of cases)
Everted lower lip vermilionHPOHP:0000232
- Occasional (5% to 29% of cases)
Everted upper lip vermilionHPOHP:0010803
- Occasional (5% to 29% of cases)
Full cheeksHPOHP:0000293
- Occasional (5% to 29% of cases)
Gingival overgrowthHPOHP:0000212
- Occasional (5% to 29% of cases)
High anterior hairlineHPOHP:0009890
- Occasional (5% to 29% of cases)
High palateHPOHP:0000218
- Occasional (5% to 29% of cases)
Hypoplastic fingernailHPOHP:0001804
- Occasional (5% to 29% of cases)
Low anterior hairlineHPOHP:0000294
- Occasional (5% to 29% of cases)
Malar flatteningHPOHP:0000272
- Occasional (5% to 29% of cases)
Open mouthHPOHP:0000194
- Occasional (5% to 29% of cases)
Short phalanx of the thumbHPOHP:0009660
- Occasional (5% to 29% of cases)
Tented upper lip vermilionHPOHP:0010804
- Occasional (5% to 29% of cases)
Thick nasal alaeHPOHP:0009928
- 1 of 6 reported patients
- Occasional (5% to 29% of cases)
Triangular shaped distal phalanx of the thumbHPOHP:0009648
- Occasional (5% to 29% of cases)
Absent thumbnailHPOHP:0012554
- 2 of 6 reported patients
Gastroesophageal refluxHPOHP:0002020
- 1 of 5 reported patients
Flat foreheadHPOHP:0004425
- 1 of 6 reported patients
Broad halluxHPOHP:0010055
Global developmental delayHPOHP:0001263