Traits

Traits linked to RIPK4

receptor interacting serine/threonine kinase 4

The Human Phenotype Ontology links 100 traits to RIPK4, by body system: features seen in people with one of the gene's rare conditions.

RIPK4

Abnormality of head or neck

Trait	How often it is seen
Absent eyelids	Always
Cleft of the face	Always
Expressionless face	Always
Little lower jaw	Always
Oral synechia	Always
Short nose	Always
Sparse scalp hair	Always
Underdeveloped tissue around nostril	Always
Upward slanting of the opening between the eyelids	Always
Abnormally small head	Very often (80–99%)
Adhesion of eyelids	Very often (80–99%)
Central cleft upper lip	Very often (80–99%)
Cleft palate	Very often (80–99%)
Sparse or absent eyebrows	Very often (80–99%)
Sparse or absent eyelashes	Very often (80–99%)
Abnormal oral frenulum morphology	Often (30–79%)
Absence of adult teeth	Often (30–79%)
Absence of upper front tooth	Often (30–79%)
Cleft eyelid	Often (30–79%)
Cleft lower eyelid	Often (30–79%)
Cleft tongue	Often (30–79%)
Cleft upper lip	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Everted eyelid	Often (30–79%)
Lip pits at corners of the mouth	Often (30–79%)
Narrow mouth	Often (30–79%)
Narrow opening between the eyelids	Often (30–79%)
Short neck	Often (30–79%)
Decreased size of maxilla	Sometimes (5–29%)
Eyelids stay open due to scarring	Sometimes (5–29%)
Absent eyebrow	Not recorded
Absent eyelashes	Not recorded

Abnormality of limbs

Trait	How often it is seen
Absent palm lines	Always
Absent thumb	Always
Club feet	Always
Limb undergrowth	Always
Oligodactyly	Always
Short thumb	Always
Shortened long bone of hand	Always
Webbed fingers or toes	Always
Absent/small outermost bones of toe	Very often (80–99%)
Finger syndactyly	Very often (80–99%)
Fused toes	Very often (80–99%)
Talipes	Very often (80–99%)
Curving of inner forearm bone	Often (30–79%)
Missing outer large bone of forearm	Often (30–79%)
Short 5th long bone of foot	Sometimes (5–29%)
Short finger bones	Not recorded

Abnormality of the integument

Trait	How often it is seen
Alopecia totalis	Always
Hair loss	Always
Popliteal pterygium	Always
Pterygium	Always
Skin tags	Always
Small nail	Always
Atypical nail growth	Very often (80–99%)
Curly hair	Very often (80–99%)
Underdeveloped toenails	Very often (80–99%)
Axillary pterygium	Often (30–79%)
Decreased ability to sweat	Often (30–79%)
Dry skin	Often (30–79%)
Absent nails	Not recorded
Skin erosion	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent external genitalia	Always
Heart shaped uterus	Always
Short penis	Always
Small labia majora	Always
Small male external genitalia	Always
Ambiguous external genitalia	Very often (80–99%)
Abnormal kidney location	Often (30–79%)
Hydroureter	Often (30–79%)
Imperforate hymen	Often (30–79%)
Absent/small kidney	Sometimes (5–29%)
Bilateral cryptorchidism	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Absent anus	Always
Inferiorly positioned umbilicus	Always
Omphalocele	Always
Inguinal hernia	Often (30–79%)
Narrowing of anal opening	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Corneal ulceration	Always
Opacification of the corneal stroma	Always
Wide-set eyes	Always
Corneal opacity	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Always
Flexed joint that cannot be straightened	Always
Fusion of joints	Very often (80–99%)
Hypoplastic iliac wing	Often (30–79%)
Small shoulder blade	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Small ears	Always
Low-set ears	Often (30–79%)
Cupped ear	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Often (30–79%)
Intellectual disability	Often (30–79%)
Motor delay	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent foramen ovale	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Always

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Partial or complete collapse of part or entire lung	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to RIPK4 and how often each is seen. Find out more at hpo.jax.org.

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