These survey results are based on reports of 60 individuals, ages birth to age 55. (for a downloadable PDF, click here.)
-lower limbs (legs, feet)
|Conditions found to occur more frequently among those with SA/CRS than in the general population
The connection to SA/CRS is unknown and probably varies from individual to individual:
-Non-related, co-occurring, different genetic or unknown cause
-Co-occurring as a feature of another syndrome
-Co-occurring as the same fetal environment issue that impacted spinal formation, also impacted other structures
|Conditions present in individuals with SA/CRS, but not with any increased frequency than in the general population.
–Probably with no direct connection or link to SA/CRS, possibly part of other known or unknown syndromes.
|Syndromes found in addition to the diagnosis of SA/CRS:
-Syndromes with SA/CRS as a feature of the syndrome.
-Syndromes that do not include spinal issues as a feature but which do include other overlapping conditions such as kidney, heart, and genital features as a part of the syndrome.
-Syndromes that do not appear to have a connection to SA/CRS but may co-occur.
Flat buttocksAtrophy of leg muscles
GI reflux, GERD, gastroparesis (slow emptying stomach, hypomotility in GI), trachea-esophageal fistula, displaced spleen, omphalocele (abdominal wall defect), situs inversus (stomach and liver on the wrong side of the body).Malrotation of intestines(see also VACTERL)
|Food sensitivities dairy, grapes, solids, etc. (but this may be part of an issue with the central nervous system (CNS) of which the spinal cord and nerves extending from the spinal cord are part.)||VACTERL-stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features.|
Club foot, vertical talus (rocker bottom feet), cavas (high arch), fixation of ankle/toes, small feet
Heart defects, VSD, PFO, arrhythmia, duplication of valve, heart murmur, transposition of great arteries
(SEE ALSO VACTERL)
|Complex cyst (absorbed twin)||Reynaulds syndrome-some areas of the body (hand, feet) have reduced blood flow, feel cold/numb in response to cold temp or stress|
Different size legs (leg length discrepancyFixed knee joint, bentFixed knee joint, straightWebbing between thighs and calvesWidely splayed legs
Small size legs
Small size femur
Paralysis of legs (complete or partial)
Atrophy of muscles (related to paralysis)
Bilaterial internal tibial torsion
Hearing loss mild through moderate, deaf one or both ears, Chronic ear infections, unilateral or bilateral microtia or atresia,Skin tag near earSee also GOLDENHARS
Oculo auriculo vertebral spectrum, or OAVS (oculo refers to the eye, auriculo to the ear, and vertebral to the spine). This spectrum involves the eye, ear, and spine. The problems are the same as described for hemifacial microsomia and Goldenhar Syndrome. Like Goldenhar Syndrome, one side of the face is usually affected, but 10-33% have both sides affected. OAV spectrum encompasses both hemifacial microsomia and Goldenhar syndrome. It is thought that Goldenhar Syndrome may be a more complicated version of OAV while hemifacial microsomia may be a milder version. It is possible that someone with just a small ear, and no other problems, may be at the very mildest end of this spectrum.
Hemivertebrae, butterfly vertebrae, partial absence of sacrum, complete absence of sacrum, hemisacrum
Absence of spine extending into lumbar
Complete absence of lumbar and sacral spine
Partial absence of thoracic, complete absence of lumbar and sacral spine
Curve of spine (lordosis, kyphosis, scoliosis)
hypermobile wrists, fingers, reduced strength in hands, atrophied thumb muscles (see also VACTERLS)
Physical developmental delay, gross and fine motor delay
|Kipple Feil syndrome –fusion of cervical vertebrae caused by mutations in the GDF6, GDF3, or MEOX1 gene; but the same condition can appear without this genetic mutation.|
Reduced sensation associated with absence of spinal cord
Hyper sensitivity of specific areas (genitals, feet, back)
Heat intolerance, decreased ability to sweat (see also VACTERLS)
Enamel didn’t form on some baby teeth, slow to lose baby teeth, slow growth of permanent teeth
|(Hemangeoma) birthmark though birthmark at the base or low area of the spine is more common among those with SA/CRS). Other birthmarks do not appear more frequently than in the general population.||Duane’s syndrome (eye can’t turn outward)|
Split cord type II
Torticollis, short neck, shortened vertebrae in neck, See also Kippel Feil syndrome (fused neck vertebrae).
|Cleft palate, see also GOLDENHAR syndrome.||Mayer Kuster Hauser Rokitansky syndrome: Type 1: vagina and uterus underdeveloped or absent, although external genitalia are normal.
Type 2: the kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome type 2 may also have hearing loss or heart defects.
Extra rib, missing rib, fused rib
Spina bifida (OSD-lipoma, meningocele)
Syrinx-fluid-filled sac in spinal cord
|Epilepsy (petite mal, generalized)||.|
Different size kidney
Hydronephosis (reflux to kidney)
Chronic kidney disease (CKD)
Skull shape anomalies:
Wide Skull (brachychephaly)
Narrow Skull (scaphocephaly)
|Repetitive behaviors (non-autistic)
Mild Autism spectrum
Aspergers syndrome (autism spectrum)
Duplicate ureters on both sides
See also GOLDENHAR syndrome
|Early onset puberty|
Latex allergy (increased risk when there are spinal conditions)
|Periventricular leukomalacia (white brain matter injury)|
|Neurogenic bowel (as a result of lack of nerve function at end of spine)||Congenital cystic adenoid malformation (lung)
|Neurogenic bladder (as a result of lack of nerve function at end of spine)
Slow growth–does not follow standard growth chart
Reduced appetite (possibly due to competition for space among organs and stomach)
|High blood pressure|
|Amblyopia, eye convergence (left eye diverts)|
|Fingers and feet missing crease lines, finger height differences|
|Polycystic ovarian syndrome (PCS)|
|ADD or ADHD|
|Anemia, vitamin deficiency|