Table 2.

Syndromes with Early-Onset Mirror Movements

DisorderGene(s)MOIMirror MovementsOther Features
ANOS1 Kallmann syndrome (KS) (See Isolated GnRH Deficiency.)ANOS1 (KAL1)XL
  • MM in persons w/KS is almost always linked to ANOS1 1 (ANOS1-KS accounts for ~5%-10% of isolated GnRH deficiency).
  • Prevalence of MM in KAL1-KS is 75%. 1
Hyposmia & hypogonadotropic hypogonadism
Joubert syndrome ≥34 genesAR
XL 2		CMM is observed in some affected persons. 3Hypoplasia of cerebellar vermis w/characteristic neuroradiologic molar tooth sign & variable accompanying neurologic symptoms
Klippel-Feil syndrome (KFS) (OMIM PS118100) 4 GDF3
GDF6
MEOX1
MYO18B 		AD
AR		MM is present in minority of persons w/KFS (MM is likely linked to cervicomedullary neuroschisis).
  • Congenital fusion of cervical vertebrae
  • Typical phenotype incl low posterior hairline, short neck, & ↓ amplitude of neck movements
Moebius syndrome (OMIM 157900)UnknownADMM is only occasionally reported. 5Minimum criteria are congenital, non-progressive facial weakness in assoc w/limited abduction of 1 or both eyes.
Nevoid basal cell carcinoma syndrome
(Gorlin syndrome)		PTCH1
(PTCH2) 6
SUFU		ADMM reported in 1 person 7Multiple basal cell carcinomas, jaw keratocysts, & skeletal malformations
Seckel syndrome
(OMIM PS210600)		 ATR
CENPJ
CEP152
CEP63
DNA2
NIN
NSMCE2
RBBP8
TRAIP 		AR1 reported person w/MM 8Primary microcephaly, intellectual disability, & often prenatal-onset growth restriction
Wildervanck syndrome (OMIM 314600)UnknownXL?1 reported person w/MM 9
  • Klippel-Feil syndrome w/congenital perceptive deafness & Duane syndrome 10
  • Affected persons are almost exclusively female.

AD = autosomal dominant; AR = autosomal recessive; CMM = congenital mirror movements; GnRH = gonadotropin-releasing hormone; MM = mirror movements; MOI = mode of inheritance; XL = X-linked

1.
2.

Digenic inheritance has been reported.

3.
4.
5.
6.

Occasional variants in PTCH2 have been found in individuals with NBCCS but these may not be conclusive (see Nevoid Basal Cell Carcinoma Syndrome).

7.
8.
9.
10.

Duane syndrome = abducens palsy with narrowing of the palpebral fissure

From: Congenital Mirror Movements

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