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- What is the importance of dysmorphic features in a short child?
The presence of dysmorphic features suggests syndromic short stature and
helps to establish an etiological diagnosis. The common causes of short stature
with dysmorphic features are summarized in the table given below (Figs. 1.11
and 1.12).Disease Dysmorphic features
Turner syndrome Micrognathia, low-set ears, low posterior hairline, short
webbed neck, lymphedema, shield chest, cubitus valgus,
short fourth and/or fifth metacarpals, cardiac anomalies
(left sided), renal anomalies
Noonan syndrome Hypertelorism, down-slanting eyes, short webbed neck,
low posterior hairline, right-sided cardiac anomalies,
hypertrophic cardiomyopathy, mental retardation,
cryptorchidism
Down syndrome Mongoloid slant of eyes, developmental delay, umbilical
hernia, simian crease, large protruding macroglossia,
sandal toe
Prader–Willi syndrome Obesity, hypotonia, hypogonadism, mental retardation
Russell–Silver syndrome Small triangular facies, facial asymmetry, clinodactyly,
hemihypertrophy, micrognathia
Laurence–Moon–Bardet–Biedl
syndromeObesity, polydactyly, hypogonadism, retinitis
pigmentosa
Seckel syndrome Microcephaly, beaking of nose, micrognathia,
craniosynostosis
GH deficiency due to congenital
hypothalamo–pituitary defectsCleft lip, cleft palate, single central incisor, bifid uvula,
nystagmus, rigid cervical spine (short neck)
Pseudohypoparathyroidism Albright hereditary osteodystrophy phenotype (round
face, short fourth and/or fifth metacarpals, obesity,
subcutaneous ossification)1 Disorders of Growth and Development: Clinical Perspectives