Additional Disease Briefs

short stature due to partial GHR deficiency

Also known as: GHIP, Growth hormone deficiency, isolated, partial, Growth hormone, insensitivity to, partial, growth hormone insensitivity, partial, increased responsiveness to Growth hormone, short stature due to partial growth hormone receptor deficiency

short stature due to primary acid-labile subunit deficiency

Also known as: ACLSD, acid-labile SUBUNIT deficiency, acid-labile subunit, deficiency of

short stature with microcephaly and distinctive facies

Also known as: short stature with microcephaly and distinctive facies

short stature-advanced bone age-early-onset osteoarthritis syndrome

short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

Also known as: SAMS, SAMS syndrome, short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities, short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities

short stature-brachydactyly-obesity-global developmental delay syndrome

Also known as: SBIDDS, short stature, brachydactyly, intellectual developmental disability, and seizures

short stature-craniofacial anomalies-genital hypoplasia syndrome

Also known as: Haspeslagh syndrome, Haspeslagh-Fryns-Muelenaere syndrome, pterygia intellectual disability facial dysmorphism, pterygia mental retardation facial dysmorphism, pterygia, intellectual disability and distinctive craniofacial features, pterygia, intellectual disability, and distinctive craniofacial features, pterygia, mental retardation and distinctive craniofacial features, pterygia, mental retardation, and distinctive craniofacial features

short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

Also known as: short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, soft, soft syndrome

short stature-optic atrophy-Pelger-HuC+t anomaly syndrome

Also known as: short stature with optic atrophy and Pelger-Huët anomaly syndrome, short stature, optic nerve atrophy, and Pelger-Huet anomaly, short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, short stature-optic atrophy-Pelger-Huët anomaly syndrome, soph, soph syndrome

short stature-pituitary and cerebellar defects-small sella turcica syndrome

Also known as: CPHD4, pituitary hormone deficiency, combined 4, pituitary hormone deficiency, combined with or without cerebellar defects, pituitary hormone deficiency, combined, 4, pituitary hormone deficiency, combined, type 4, pituitary hormone deficiency, combined, with or without cerebellar defects, short stature, pituitary and cerebellar defects and small sella turcica, short stature, pituitary and cerebellar defects, and small sella turcica