Traits

Traits linked to RECQL4

RecQ like helicase 4

The Human Phenotype Ontology links 211 traits to RECQL4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Decreased size of teeth	Always
Delayed eruption of teeth	Always
Depressed nasal bridge	Always
Eye folds	Always
High palate	Always
Little lower jaw	Always
Narrow eyelid opening	Always
Sparse scalp hair	Always
Broad head shape	Very often (80–99%)
Frontal bossing	Very often (80–99%)
High, prominent forehead	Very often (80–99%)
Wide fontanelles	Very often (80–99%)
Abnormal dentition	Often (30–79%)
Absent eyebrow	Often (30–79%)
Absent eyelashes	Often (30–79%)
Cleft palate	Often (30–79%)
Deformity of the skull	Often (30–79%)
Narrow mouth	Often (30–79%)
Short nose	Often (30–79%)
Slender nose	Often (30–79%)
Sparse eyebrow	Often (30–79%)
Sparse eyelashes	Often (30–79%)
Sparse or absent eyebrows	Often (30–79%)
Sparse or absent eyelashes	Often (30–79%)
Wider-than-typical soft spot of skull	Often (30–79%)
Abnormal tooth enamel	Sometimes (5–29%)
Absence of adult teeth	Sometimes (5–29%)
Boxer's nasal deformity	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Coronal craniosynostosis	Sometimes (5–29%)
Decreased number of teeth	Sometimes (5–29%)
Decreased size of tooth	Sometimes (5–29%)
Decreased volume of lip	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Facial puffiness	Sometimes (5–29%)
Lambdoidal craniosynostosis	Sometimes (5–29%)
Long nose	Sometimes (5–29%)
Long upper lip	Sometimes (5–29%)
Narrow face	Sometimes (5–29%)
Narrow nasal bridge	Sometimes (5–29%)
Oxycephaly	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Tall shaped head	Sometimes (5–29%)
Bicoronal synostosis	Not recorded
Bifid uvula	Not recorded
Big lower jaw	Not recorded
Downward slanting of the opening between the eyelids	Not recorded
Early closure of midline skull joint	Not recorded
Extra teeth	Not recorded
Flat forehead	Not recorded
High, narrow palate	Not recorded
Long face	Not recorded
Midface capillary hemangioma	Not recorded
Narrow opening between the eyelids	Not recorded
Narrowing of the rear opening of the nasal cavity	Not recorded
Short chin	Not recorded
Underdeveloped tissue around nostril	Not recorded

Abnormality of limbs

Trait	How often it is seen
Aplasia/Hypoplasia of the radius	Always
Small hand	Always
Absent fingers	Very often (80–99%)
Absent/small kneecap	Very often (80–99%)
Absent/small thumb	Very often (80–99%)
Abnormal shape of long bones of hand	Often (30–79%)
Abnormal wrist bones	Often (30–79%)
Abnormality of limbs	Often (30–79%)
Absent thumb	Often (30–79%)
Bowing of the long bones	Often (30–79%)
Oligodactyly	Often (30–79%)
Underdeveloped outer large forearm bone	Often (30–79%)
Abnormal ulnar metaphysis morphology	Sometimes (5–29%)
Abnormality of the radial head	Sometimes (5–29%)
Absent kneecap	Sometimes (5–29%)
Absent/small bones of the upper limbs	Sometimes (5–29%)
Forearm undergrowth	Sometimes (5–29%)
Fusion involving bones of the upper limbs	Sometimes (5–29%)
Increased bone density in wide portion of long bone	Sometimes (5–29%)
Metaphyseal striations	Sometimes (5–29%)
Missing outer large bone of forearm	Sometimes (5–29%)
Outward bow-leggedness	Sometimes (5–29%)
Plantar hyperkeratosis	Sometimes (5–29%)
Radial deviation of the hand	Sometimes (5–29%)
Short finger bones	Sometimes (5–29%)
Shortened long bone of hand	Sometimes (5–29%)
Small kneecap	Sometimes (5–29%)
Fused finger bones	Rarely (1–4%)
Absent long bone of hand	Not recorded
Absent wrist bone	Not recorded
Aphalangy of the hands	Not recorded
Club feet	Not recorded
Curving of inner forearm bone	Not recorded
Dislocated hip since birth	Not recorded
Forearm reduction defects	Not recorded
Fused wrist bones	Not recorded
Limited elbow movement	Not recorded
Short foot	Not recorded
Short humerus	Not recorded
Short palm	Not recorded
Short thumb	Not recorded
Underdeveloped inner large forearm bone	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Always
Wide-set eyes	Always
Bulging eye	Very often (80–99%)
Abnormally close eyes	Sometimes (5–29%)
Astigmatism	Sometimes (5–29%)
Clouding of the lens of the eye at birth	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)
Severe near sightedness	Sometimes (5–29%)
Clouding of the lens of the eye	Rarely (1–4%)
Juvenile cataract	Rarely (1–4%)
Close sighted	Not recorded
Cornea of eye less than 10mm in diameter	Not recorded
Cross-eyed	Not recorded
Glaucoma	Not recorded
Optic atrophy	Not recorded
Zonular cataract	Not recorded

Abnormality of the integument

Trait	How often it is seen
Poikiloderma	Always
Patchy darkened skin	Very often (80–99%)
Patchy lightened skin	Very often (80–99%)
Atypical nail growth	Often (30–79%)
Poor nail formation	Often (30–79%)
Skin degeneration	Often (30–79%)
Sparse hair	Often (30–79%)
Abnormal blistering of the skin	Sometimes (5–29%)
Alopecia totalis	Sometimes (5–29%)
Basal cell carcinoma	Sometimes (5–29%)
Skin cancer	Sometimes (5–29%)
Squamous cell carcinoma	Sometimes (5–29%)
Porokeratosis	Rarely (1–4%)
Hair loss	Not recorded
Mottled skin coloring	Not recorded
Photosensitive skin	Not recorded
Premature graying of hair	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bone cell cancer	Often (30–79%)
Joint dislocation	Often (30–79%)
Multiple skeletal anomalies	Often (30–79%)
Abnormal trabecular bone morphology	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Spontaneous fracture	Sometimes (5–29%)
Calcium buildup in soft tissues of body	Rarely (1–4%)
Abnormal vertebral morphology	Not recorded
Kyphoscoliosis	Not recorded
Limited shoulder movement	Not recorded
Osteoporosis	Not recorded
Rib fusion	Not recorded
Stiff hinge joints	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Very often (80–99%)
Feeding difficulties	Very often (80–99%)
Anteriorly placed anus	Often (30–79%)
Malabsorption	Often (30–79%)
Absent anus	Sometimes (5–29%)
Functional abnormality of the gastrointestinal tract	Sometimes (5–29%)
Nasogastric tube feeding	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)
Abnormal connection between rectum and vagina	Not recorded
Annular pancreas	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)
Chiari malformation	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Obstructive sleep apnea	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Agenesis of corpus callosum	Not recorded
Epilepsy	Not recorded
More grooves in brain	Not recorded
Spina bifida occulta	Not recorded

Abnormality of the ear

Trait	How often it is seen
Prominent antihelix	Always
Overfolded ears	Often (30–79%)
Underfolded helix	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Mixed hearing impairment	Sometimes (5–29%)
Ears rotated toward back of head	Not recorded
Hearing impairment	Not recorded
Low-set ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal localisation of kidneys	Sometimes (5–29%)
Abnormality of the ureter	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Urogenital fistula	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Abnormality of the kidney	Not recorded
Perineal fistula	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Always
Faltering weight in infancy	Very often (80–99%)
Growth delay	Very often (80–99%)
Growth delay as children	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Small for gestational age	Often (30–79%)
Severe prenatal growth deficiency	Sometimes (5–29%)
Severe short stature	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Cancer of lymphatic system	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Low T cell count	Sometimes (5–29%)
Myelodysplasia	Sometimes (5–29%)
Aplastic anemia	Rarely (1–4%)
Blood cancer	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Redness of skin or mucous membrane	Very often (80–99%)
Blushed cheeks	Often (30–79%)
Abnormal cardiac septum morphology	Sometimes (5–29%)
Abnormal cardiovascular system morphology	Not recorded
Abnormality of the heart	Not recorded
Anomalous splenoportal venous system	Not recorded
Spider veins	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of skin pigment cells	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	Sometimes (5–29%)

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 RECQL4 and how often each is seen. Find out more at hpo.jax.org.

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