Table 2.

Select Features of Au-Kline Syndrome

Feature% of Persons w/FeatureComment
Hypotonia 32/32 (100%)
Developmental delay / intellectual disability 32/32 (100%)
Central nervous system malformations 15/30 (50%)Findings are generally nonspecific.
Hyporeflexia or areflexia 12/31 (39%)See Genotype-Phenotype Correlations.
High pain tolerance 11/30 (37%)
Dysmorphic facies meeting proposed clinical diagnostic criteria (5/6 features) 26/31 (84%)
Craniosynostosis 7/31 (23%)The most commonly affected sutures are metopic & sagittal; other sutures have also been reported.
Cleft palate 8/21 (38%)High-arched palate & bifid uvula have also been reported. See Genotype-Phenotype Correlations.
Congenital heart defects 20/32 (63%)3 persons have been found to have aortic dilatation.
Cryptorchidism (in males) 13/17 (76%)
Hydronephrosis 16/31 (52%)
Feeding difficulties ~40%2 persons have required longer-term support w/G-tube.
Muscle weakness ~40%
Growth deficiency ~30%The incidence of short stature in later life is complicated by the presence of scoliosis.
Scoliosis 12/31 (39%)
Hearing loss 5/22 (23%)Typically due to middle ear effusion, but sensorineural hearing loss is also present in some persons.

From: Au-Kline Syndrome

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