Limb-Mammary Syndrome (LMS): Symptoms, Diagnosis and Treatment

Nail Abnormality

SHFM3 (OMIM 246560 ) is caused by a contiguous gene duplication on chromosome 10q24 and does not have lacrimal, dental, or ectodermal abnormalities (beyond nail abnormalities associated with developmental defects of the digits) [ de Mollerat et al 2003 [ncbi.nlm.nih.gov]

Prognathism

[…] p63 Gene Mutations Mutation SyndromeandFamily No. ofIndividualsAffected Ectodermal Features a Mammary Gland b Limb c Clefting Renal Additional Features Nucleotide Amino Acid EEC: Q d 4 H, T SHFM 728G A R204Q AK 1 H, N Syndactyly, SHFM CLP Mandibular prognathism [ncbi.nlm.nih.gov]

Small Eyes

eyes, recurrent chest infections, eczema 1039T A C308S AZ 1 H, L, N, S, T SHFM 1042C T P309S DF 1 H, L, N, S, T Syndactyly, SHFM CLP Unilateral hydrocele, photophobia, chronic blepharitis, corneal ulcers 1051G C D312H I d 1 L, T SHFM CLP 1689InsA FS [ncbi.nlm.nih.gov]

Foot Deformity

Surgical intervention may be offered for correction of the hand/foot deformities in order to improve function and reduce physical disfigurement. Prognosis The prognosis for LMS patients is good and life expectancy is normal. Last updated: 10/11/2006 [rarediseases.info.nih.gov]

Surgical intervention may be offered for correction of the hand/foot deformities in order to improve function and reduce physical disfigurement. [malacards.org]

Surgical intervention may be offered for correction of the hand/foot deformities in order to improve function and reduce physical disfigurement. Prognosis The prognosis for LMS patients is good and life expectancy is normal. [orpha.net]
Long Arm

Cell 99:143–153 [ PubMed ] [ Google Scholar ] Chitayat D, Babul R, Silver MM, Jay V, Teshima IE, Babyn P, Becker LE (1996) Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27 qter)]. [ncbi.nlm.nih.gov]

Mandibular Prognathism

prognathism 728G A R204Q DH 2 H, N, T Syndactyly 728G A R204Q EG 1 L, N, T Syndactyly 728G A R204Q F d 1 H, L, N, T SHFM 727C T R204W S d 1 H, L, N, S, T Syndactyly CLP 727C T R204W AA d 1 L, N, S, T Syndactyly CLP 727C T R204W AT 3 H, L, N, S SHFM CLP [ncbi.nlm.nih.gov]

Dysesthesia

[…] cutaneous diseases Arne Kanig and Rudolf Happle Ichthyoses erythrokeratodermas and related disorders Keratodermas Kro Dariers disease and HaileyHailey disease Daniel Hohl Theodora Mauro and leanPhilippe Gorog Mosaicism and linear lesions Pruritus and dysesthesia [books.google.com]

Symptoma