congenital contractures of the limbs and face, hypotonia, and developmental delay

MONDO:0014556Mondo

Findings

No curated finding names congenital contractures of the limbs and face, hypotonia, and developmental delay yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.

Definition from the Mondo Disease Ontology (MONDO:0014556), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal dominant inheritance
Onset and course: Congenital onset

Features

64 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
- 14 of 14 reported patients
- Frequent (30% to 79% of cases)
CamptodactylyHPOHP:0012385
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
Delayed speech and language developmentHPOHP:0000750
- 12 of 12 reported patients
- Frequent (30% to 79% of cases)
DroolingHPOHP:0002307
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
Enlarged narisHPOHP:0009931
- 14 of 14 reported patients

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.

NALCNHGNC:19082
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025

Where it sits

A kind of: hereditary disease

Other names

2 names

Resolves to: congenital contractures of the limbs and face, hypotonia, and developmental delay

Also called: CLIFAHDD syndromecongenital limbs-face contractures-hypotonia-developmental delay syndrome

Show the remaining 52

Anteverted naresHPOHP:0000463
- 12 of 14 reported patients
Downslanted palpebral fissuresHPOHP:0000494
- 11 of 13 reported patients
- Frequent (30% to 79% of cases)
Global developmental delayHPOHP:0001263
- 11 of 13 reported patients
- Frequent (30% to 79% of cases)
ConstipationHPOHP:0002019
- 5 of 6 reported patients
- Occasional (5% to 29% of cases)
Short neckHPOHP:0000470
- 10 of 12 reported patients
- Frequent (30% to 79% of cases)
Gastroesophageal refluxHPOHP:0002020
- 9 of 11 reported patients
- Frequent (30% to 79% of cases)
Neonatal respiratory distressHPOHP:0002643
- 9 of 11 reported patients
Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
Talipes equinovarusHPOHP:0001762
- 10 of 14 reported patients
- Frequent (30% to 79% of cases)
Respiratory insufficiencyHPOHP:0002093
- 7 of 10 reported patients
- Occasional (5% to 29% of cases)
Pursed lipsHPOHP:0000205
- 9 of 13 reported patients
- Frequent (30% to 79% of cases)
Hip contractureHPOHP:0003273
- 9 of 14 reported patients
Knee flexion contractureHPOHP:0006380
- 9 of 14 reported patients
Inguinal herniaHPOHP:0000023
- 8 of 13 reported patients
Abnormal pattern of respirationHPOHP:0002793
- Frequent (30% to 79% of cases)
Chin with H-shaped creaseHPOHP:0011824
- 8 of 14 reported patients
- Frequent (30% to 79% of cases)
Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
HerniaHPOHP:0100790
- Frequent (30% to 79% of cases)
HypotoniaHPOHP:0001252
- 7 of 13 reported patients
- Frequent (30% to 79% of cases)
Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
StrabismusHPOHP:0000486
- 7 of 13 reported patients
- Frequent (30% to 79% of cases)
Ulnar deviation of the hand or of fingers of the handHPOHP:0001193
- Frequent (30% to 79% of cases)
Elbow flexion contractureHPOHP:0002987
- 7 of 14 reported patients
AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
BrachycephalyHPOHP:0000248
- Occasional (5% to 29% of cases)
Broad foreheadHPOHP:0000337
- Occasional (5% to 29% of cases)
Calcaneovalgus deformityHPOHP:0001848
- 3 of 14 reported patients
- Occasional (5% to 29% of cases)
EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
EsotropiaHPOHP:0000565
- 2 of 13 reported patients
- Occasional (5% to 29% of cases)
Feeding difficultiesHPOHP:0011968
- Occasional (5% to 29% of cases)
High palateHPOHP:0000218
- Occasional (5% to 29% of cases)
HypertoniaHPOHP:0001276
- Occasional (5% to 29% of cases)
Low-set earsHPOHP:0000369
- Occasional (5% to 29% of cases)
MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
Narrow mouthHPOHP:0000160
- Occasional (5% to 29% of cases)
ScoliosisHPOHP:0002650
- 5 of 13 reported patients
- Occasional (5% to 29% of cases)
SeizureHPOHP:0001250
- 2 of 14 reported patients
- Occasional (5% to 29% of cases)
Short statureHPOHP:0004322
- Occasional (5% to 29% of cases)
Smooth philtrumHPOHP:0000319
- Occasional (5% to 29% of cases)
Cerebellar atrophyHPOHP:0001272
- 3 of 10 reported patients
Cerebral atrophyHPOHP:0002059
- 2 of 10 reported patients
ArachnodactylyHPOHP:0001166
- Very rare (1% to 4% of cases)
HypertelorismHPOHP:0000316
- Very rare (1% to 4% of cases)
MacrocephalyHPOHP:0000256
- Very rare (1% to 4% of cases)
MacrotiaHPOHP:0000400
- Very rare (1% to 4% of cases)
MyopiaHPOHP:0000545
- Very rare (1% to 4% of cases)
Slender noseHPOHP:0000417
- Very rare (1% to 4% of cases)
Umbilical herniaHPOHP:0001537
- 2 of 13 reported patients
Metatarsus adductusHPOHP:0001840
- 1 of 7 reported patients
11 pairs of ribsHPOHP:0000878
- 1 of 14 reported patients
Congenital contractureHPOHP:0002803