3M syndrome is a growth disorder that causes short stature, characteristic facial features, and skeletal abnormalities. Intelligence is normal. The name comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. 3M syndrome is caused by genetic changes in one of three genes: CUL7, OBSL1, and CCDC8.

3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. [1] The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux and report their findings in the medical literature in 1972. [ 2 ]

2002年3月25日 · Males with three M syndrome have hypogonadism and occasionally hypospadias. Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), …

3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. Explore symptoms, inheritance, genetics of this condition.

2012年6月11日 · Three M syndrome is an extremely rare inherited disorder characterized by low birth weight, delayed bone age, and short stature; characteristic malformations of the head and facial (craniofacial) area; and/or finger (digital) and/or skeletal malformations.

3-M syndrome is an autosomal recessive disorder characterised by pre- and post-natal growth restriction, facial dysmorphism, normal intelligence and radiological features (slender long bones and tall vertebral bodies).

3-M syndrome is a disorder that causes skeletal abnormalities including short stature ( dwarfism) and unusual facial features. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux.

3M syndrome is characterized by a triangular-shaped face with frontal bossing, mild malar hypoplasia, and narrowed nasal body with a fleshy tip, upturned nares and full lips. Patients usually have large heads for their height, dolichocephaly and normal intelligence.

Objective: To characterize, via clinical and molecul criteria, a cohort of patients with 3M syndrome and thereby increase awareness of this syndrome as a recognizable cause of proportionate short stature.

2022年2月22日 · 3M syndrome (3MS) is a rare autosomal recessive primordial growth disorder characterized by a severe pre- and post-natal growth deficiency, minor dysmorphisms and skeletal abnormalities, contrasting with normal intellect and endocrine function.