Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) is a rare, autosomal-recessive lethal skeletal dysplasia characterized pre and postnatal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low-set ears, depressed nasal bridge, short nose, anteverted nares, increased nasal width, prominent abdomen, and short limbs. A homozygous mutation in MAGMAS (Mitochondria-associated granulocyte macrophage colony stimulating factor-signaling molecule), also referred to as PAM16, is identified from patients of this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01830 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
