MOTA syndrome, the acronym for Manitoba-oculo-tricho-anal syndrome (OMIM 248450), is a distinct autosomal recessive multiple malformation syndrome caused by mutations in the FREM1 gene (OMIM 608944). Eight patients with MOTA syndrome and a pathogenic FREM1 mutation have previously been documented. We report on a new male patient, 3.5 months old, with MOTA syndrome, who presented with the follow...

Brachydactyly, syndactyly, and leg-feathering or ptilopody‘ are among the many characteristics of the domestic fowl that have been studied from the standpoint of genetics. The last in particular, owing to its widespread occurrence, has aroused especial interest. Its heredity has been investigated by HURST (1905), DAVENPORT (1909), and more recently by PUNNETT and BAILEY ( 1918). The genetic beh...

F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we report a six generation Turkish family with a related but distinct dominantly inherited acropectoral syndrome. All 22 affected subjects have soft tissue syndactyly of all fingers and a...

UNLABELLED Poland's syndrome is characterized by variable clinical picture. Classic deformity consists of unilateral hypoplasia or aplasia of the sternocostal head of the pectoralis major muscle and ipsilateral hand malformations. Additionally on the affected side hypoplasia or aplasia of the breast in women is observed. Variable malformations in Poland's syndrome cause that there is no uniform...

T he F form of acropectorovertebral dysgenesis, also called F syndrome, is a rare dominantly inherited fully penetrant skeletal disorder. The name of the syndrome is derived from the first letter of the surname of the family in which it was originally described. Major anomalies include carpal synostoses, malformation of first and second fingers with frequent syndactyly between these digits, hyp...

The split hand/split foot malformation (SHFM), which is also known as ectrodactyly, is a limb malformation syndrome involving the central rays of the hand or foot. The typical SHFM may present with syndactyly; median clefts of the hands and feet; and aplasia or hypoplasia (or both) of the phalanges, metacarpals, and metatarsals. Numerous human gene defects can cause SHFMs. For example, the SHFM...

Mulefoot disease (MFD) is an autosomal recessive disorder of phenotypically variable expression that causes syndactyly in certain strains of cows. MFD maps to a narrow interval on bovine chromosome 15 that is syntenic to human chromosome 11p12-p11.2. This region contains MEGF7/LRP4 (approved gene symbol LRP4), a gene that encodes a member of the multifunctional low-density lipoprotein receptor ...