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TABLE 4

Common Recognizable XLID Syndromes

SyndromeCommon ManifestationsGene, Location
Aarskog syndrome Short stature, hypertelorism, downslanting palpebral fissures, joint hyperextensibility, shawl scrotum FGD1, Xp11.21 
Adrenoleukodystrophy Variable and progressive vision and hearing loss, spasticity, neurological deterioration associated with demyelination of the central nervous system and adrenal insufficiency ABCD1, Xq28 
Aicardi syndrome Agenesis of the corpus callosum, lacunar chorioretinopathy, costovertebral anomalies, seizures in females _____, Xp22 
Allan–Herndon syndrome Generalized muscle hypoplasia, childhood hypotonia, ataxia, athetosis, dysarthria, progressing to spastic paraplegia MCT8 (SLC16A2), Xq13 
ARX-related syndromes (includes Partington, Proud, West, XLAG syndromes and nonsyndromal XLMR) Partington: dysarthria, dystonia, hyperreflexia, seizures. West: infantile spasms, hypsarrhythmia. Proud: microcephaly, ACC, spasticity, seizures, ataxia, genital anomalies. XLAG: lissencephaly, seizures, genital anomalies ARX, Xp22.3 
ATRX syndrome (includes ARTX, Chudley–Lowry, Carpenter–Waziri, Holmes–Gang, and Martinez spastic paraplegia syndromes and nonsyndromal XLMR) Short stature, microcephaly, hypotonic facies with hypertelorism, small nose, open mouth and prominent lips, brachydactyly, genital anomalies, hypotonia, in some cases hemoglobin H inclusions in erythrocytes XNP, (XH2) Xq13.3 
Christianson syndrome Short stature, microcephaly, long narrow face, large ears, long straight nose, prominent mandible, general asthenia, narrow chest, long thin digits, adducted thumbs, contractures, seizures, autistic features, truncal ataxia, ophthalmoplegia, mutism, incontinence, hypoplasia of the cerebellum, and brain stem SLC9A6, Xq26 
Coffin–Lowry syndrome Short stature, distinctive facies, large soft hands, hypotonia, joint hyperextensibility, skeletal changes RSK2, Xp22 
Creatine transporter deficiency Nondysmorphic, autistic, possibly progressive SLC6A8, Xq28 
Duchenne muscular dystrophy Pseudohypertrophic muscular dystrophy DMD, Xp21.3 
Fragile X syndrome Prominent forehead, long face, recessed midface, large ears, prominent mandible, macroorchidism FMR1, Xq27.3 
Hunter syndrome Progressive coarsening of face, thick skin, cardiac valve disease, joint stiffening, dysostosis multiplex IDS, Xq28 
Incontinentia pigmenti Sequence of cutaneous blistering, verrucous thickening, and irregular pigmentation. May have associated CNS, ocular abnormalities NEMO (IKB6KG), Xq28 
Lesch–Nyhan syndrome Choreoathetosis, spasticity, seizures, self-mutilation, uric acid urinary stones HPRT, Xq26 
Lowe syndrome Short stature, cataracts, hypotonia, renal tubular dysfunction OCRL, Xq26.1 
MECP2 duplication syndrome Hypotonia, progressing to spastic paraplegia, recurrent infections MECP2, Xq28 
Menkes syndrome Growth deficiency, full cheeks, sparse kinky hair, metaphyseal changes, limited spontaneous movement, hypertonicity, seizures, hypothermia, lethargy, arterial tortuosity, death in early childhood ATP7A, Xpl3.3 
Pelizaeus–Merzbacher disease Nystagmus, truncal hypotonia, progressive spastic paraplegia, ataxia, dystonia PLP, Xq21.1 
Renpenning syndrome (includes Sutherland–Haan, cerebropalatocardiac, Golabi–Ito–Hall, Porteous syndrome Short stature, microcephaly, small testes. May have ocular or genital abnormalities PQBP1, Xp11.3 
Rett syndrome XLMR in girls, cessation and regression of development in early childhood, truncal ataxia, autistic features, acquired microcephaly MECP2, Xq28 
X-linked hydrocephaly-MASA spectrum Hydrocephalus, adducted thumbs, spastic paraplegia L1CAM, Xq28 
SyndromeCommon ManifestationsGene, Location
Aarskog syndrome Short stature, hypertelorism, downslanting palpebral fissures, joint hyperextensibility, shawl scrotum FGD1, Xp11.21 
Adrenoleukodystrophy Variable and progressive vision and hearing loss, spasticity, neurological deterioration associated with demyelination of the central nervous system and adrenal insufficiency ABCD1, Xq28 
Aicardi syndrome Agenesis of the corpus callosum, lacunar chorioretinopathy, costovertebral anomalies, seizures in females _____, Xp22 
Allan–Herndon syndrome Generalized muscle hypoplasia, childhood hypotonia, ataxia, athetosis, dysarthria, progressing to spastic paraplegia MCT8 (SLC16A2), Xq13 
ARX-related syndromes (includes Partington, Proud, West, XLAG syndromes and nonsyndromal XLMR) Partington: dysarthria, dystonia, hyperreflexia, seizures. West: infantile spasms, hypsarrhythmia. Proud: microcephaly, ACC, spasticity, seizures, ataxia, genital anomalies. XLAG: lissencephaly, seizures, genital anomalies ARX, Xp22.3 
ATRX syndrome (includes ARTX, Chudley–Lowry, Carpenter–Waziri, Holmes–Gang, and Martinez spastic paraplegia syndromes and nonsyndromal XLMR) Short stature, microcephaly, hypotonic facies with hypertelorism, small nose, open mouth and prominent lips, brachydactyly, genital anomalies, hypotonia, in some cases hemoglobin H inclusions in erythrocytes XNP, (XH2) Xq13.3 
Christianson syndrome Short stature, microcephaly, long narrow face, large ears, long straight nose, prominent mandible, general asthenia, narrow chest, long thin digits, adducted thumbs, contractures, seizures, autistic features, truncal ataxia, ophthalmoplegia, mutism, incontinence, hypoplasia of the cerebellum, and brain stem SLC9A6, Xq26 
Coffin–Lowry syndrome Short stature, distinctive facies, large soft hands, hypotonia, joint hyperextensibility, skeletal changes RSK2, Xp22 
Creatine transporter deficiency Nondysmorphic, autistic, possibly progressive SLC6A8, Xq28 
Duchenne muscular dystrophy Pseudohypertrophic muscular dystrophy DMD, Xp21.3 
Fragile X syndrome Prominent forehead, long face, recessed midface, large ears, prominent mandible, macroorchidism FMR1, Xq27.3 
Hunter syndrome Progressive coarsening of face, thick skin, cardiac valve disease, joint stiffening, dysostosis multiplex IDS, Xq28 
Incontinentia pigmenti Sequence of cutaneous blistering, verrucous thickening, and irregular pigmentation. May have associated CNS, ocular abnormalities NEMO (IKB6KG), Xq28 
Lesch–Nyhan syndrome Choreoathetosis, spasticity, seizures, self-mutilation, uric acid urinary stones HPRT, Xq26 
Lowe syndrome Short stature, cataracts, hypotonia, renal tubular dysfunction OCRL, Xq26.1 
MECP2 duplication syndrome Hypotonia, progressing to spastic paraplegia, recurrent infections MECP2, Xq28 
Menkes syndrome Growth deficiency, full cheeks, sparse kinky hair, metaphyseal changes, limited spontaneous movement, hypertonicity, seizures, hypothermia, lethargy, arterial tortuosity, death in early childhood ATP7A, Xpl3.3 
Pelizaeus–Merzbacher disease Nystagmus, truncal hypotonia, progressive spastic paraplegia, ataxia, dystonia PLP, Xq21.1 
Renpenning syndrome (includes Sutherland–Haan, cerebropalatocardiac, Golabi–Ito–Hall, Porteous syndrome Short stature, microcephaly, small testes. May have ocular or genital abnormalities PQBP1, Xp11.3 
Rett syndrome XLMR in girls, cessation and regression of development in early childhood, truncal ataxia, autistic features, acquired microcephaly MECP2, Xq28 
X-linked hydrocephaly-MASA spectrum Hydrocephalus, adducted thumbs, spastic paraplegia L1CAM, Xq28 

Reproduced with permission from Stevenson and Schwartz.46 

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