Synonym(s): - Caudal dysplasia - Sacral agenesis syndrome - Sacral regression syndrome
Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare renal disease - Rare urogenital disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: multigenic/multifactorial		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
FUZ	Q9BT04	610622
VANGL1	Q8TAA9	610132

- Encopresis / fecal incontinence
- Maternal diabetes
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Polygenic / multifactorial inheritance
- Sacrococcyx agenesis
- Vertebral segmentation anomaly / hemivertebrae

- Agenesis / hypoplasia / aplasia of kidneys
- Areflexia / hyporeflexia
- Congenital cardiac anomaly / malformation / cardiopathy
- Ectopic / horseshoe / fused kidneys
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Sphincter dysfunction
- Talipes-varus / metatarsal varus
- Vesicorenal / vesicoureteral reflux

- Ambiguous genitalia
- Arnold-Chiari anomaly
- Chronic arterial hypertension
- Cleft lip and palate
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Renal failure
- Rib number anomalies
- Stillbirth / neonatal death
- Undescended / ectopic testes / cryptorchidia / unfixed testes