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Rothmund Thomson Syndrome
It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity[ncbi.nlm.nih.gov]
hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis.[ncbi.nlm.nih.gov]
Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic[ncbi.nlm.nih.gov]
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Goldberg-Shprintzen Syndrome
hand Disproportionately small hands 0200055 Sparse hair 0008070 Synophrys Monobrow Unibrow [ more ] 0000664 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182[rarediseases.info.nih.gov]
[…] bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Short neck Decreased length of neck 0000470 Short philtrum 0000322 Small[rarediseases.info.nih.gov]
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MRXSA
Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some[malacards.org]
hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.[informatics.jax.org]
X-linked intellectual disability, Armfield type Definition: A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small[zfin.org]
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Prader-Willi Syndrome
hands and feet.[ncbi.nlm.nih.gov]
The proband was a 2-year-old boy who had feeding difficulties, generalized hypotonia, frontal bossing, broad forehead, small hands and feet.[ncbi.nlm.nih.gov]
Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet[ncbi.nlm.nih.gov]
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Sanjad-Sakati Syndrome
All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism[ncbi.nlm.nih.gov]
[…] bridges, external ear anomalies, small hands and feet, short stature, and learning difficulties [ 6 ].[alliedacademies.org]
Other features [ edit ] Other features include: Stunting Small hands and feet with long, tapering fingers and clinodactyly Dental anomalies in the form of malalignment and[en.wikipedia.org]
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Kenny-Caffey Syndrome Type 1
All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism[unboundmedicine.com]
hands and feet, hypocalcaemia, hypoparathyroidism, radiologic evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull[medical-dictionary.thefreedictionary.com]
hands * Small feet * Hypoparathyroidism Causes - Kenny-Caffey syndrome- Type 1 Not supplied.[checkorphan.org]
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Congenital Disorder of Glycosylation Type 1E
hand Disproportionately small hands 0200055 Smooth philtrum 0000319 Splenomegaly Increased spleen size 0001744 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Telangiectasia[rarediseases.info.nih.gov]
hand Not very common - Between 30% and 50% cases High, narrow palate And 72 more phenotypes.[mendelian.co]
[…] activity 0004855 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retinopathy Noninflammatory retina disease 0000488 Short palm 0004279 Small[rarediseases.info.nih.gov]
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Wilson-Turner Syndrome
[…] feet [ more ] 0001773 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Tapered finger Tapered fingertips[rarediseases.info.nih.gov]
hand / acromicria - Small / hypoplastic / adherent / absent ear lobe - Spindle shaped fingers - Striae - Synophris / synophrys - Tapered fingers - Thick / bushy eyebrows[csbg.cnb.csic.es]
hands and feet).[encyclopedia2.thefreedictionary.com]
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Early Infantile Epileptic Encephalopathy
hands and feet.[mendelian.co]
]; Small hands; [Feet]; Small feet MUSCLE, SOFT TISSUE: Hypotonia NEUROLOGIC: [Central nervous system]; Seizures, infantile-onset; Hypsarrhythmia; Mental retardation, profound[genome.jp]
hands and feet, eye/vision anomalies, and global developmental delay. 6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to[mendelian.co]
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Scapuloperoneal Spinal Muscular Atrophy
hand Talipes equinovarus Abnormality of the musculature ... ...[familydiagnosis.com]
[…] anomalies clubfoot syndrome Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome Short stature-pituitary and cerebellar defects-small sella[orpha.net]
[…] lung Motor neurons/ Spinal posterior atrophy (hands, lysis, muscle atro- cancer, lymphoma, Anti-Hu1 root, ganglion bulbar muscles) ¶ phy (p. 304) renal cell carci- Proximal[fliphtml5.com]