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]
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]
hands and bone defects, sunlight sensitivity, hypogonadism, defective dentition, nail abnormality, hyperkeratosis, and mental retardation.
[ncbi.nlm.nih.gov]
[…] bridges, external ear anomalies, small hands and feet, short stature, and learning difficulties [ 6 ].
[alliedacademies.org]
[…] bridges, external ear anomalies, small hands and feet, short stature, and learning difficulties [6].
[alliedacademies.org]
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 * Small feet * Hypoparathyroidism Causes - Kenny-Caffey syndrome- Type 1 Not supplied.
[checkorphan.org]
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 and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes
[malacards.org]
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]
hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. https://www.ncbi.nlm.nih.gov/pubmed
[zfin.org]
hands and feet, mild dysmorphology, and behavior problems which can be severe.
[curlie.org]
Down stated "Her feet and hands remained small and contrasted remarkably with the appendages they terminated.
[whonamedit.com]
hand Disproportionately small hands 0200055 Syncope Fainting spell 0001279 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Triangular face Face with broad temples
[rarediseases.info.nih.gov]
Additional findings include small hands and feet, loose joints, and abnormal sideways curvature of the spine (scoliosis).
[rarediseases.org]
hands and feet, AND at least two of the following: Low-set ears Widely spaced eyes Small mandible Fifth-digit clinodactyly Syndactyly of toes 2 and 3 B.
[ncbi.nlm.nih.gov]
Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger
[orpha.net]
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]
hand Talipes equinovarus Abnormality of the musculature ... ...
[familydiagnosis.com]
Clinical hallmarks of SPSMA are muscular atrophy of the shoulders, peroneal and small hand muscles resulting in distal weakness, predominantly of the lower limbs, and pectoral
[orpha.net]
[…] anomalies clubfoot syndrome Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome Short stature-pituitary and cerebellar defects-small sella
[orpha.net]
[…] 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.
[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]
In addition, we observed that all patients (100.0%) had small hands and feet.
[ncbi.nlm.nih.gov]
CONCLUSIONS: Patients with AADC deficiency in Taiwan have particular clinical manifestations of small hands and feet, which have rarely been mentioned in the literature.
[ncbi.nlm.nih.gov]
The characteristic appearance includes short stature, a small rounded head flattened posteriorly, broadening of the neck, slanting eyes, a flattened nose, small broad hands
[diapedia.org]
hands and ears, and that has been seen in one family to date.
[findzebra.com]
March 2006 GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small
[findzebra.com]
Upon examination she was noted to have protruded forehead, thin hair, small hands and feet, and a saddle nose.
[alliedacademies.org]
hands and feet, hypoplastic nails Tsezou et al ., 2000 [ 4 ] p12-p24 tandem - Brachycephaly - Psychomotor delay - High forehead, hypertelorism, epicanthus, deep-set eyes,
[ncbi.nlm.nih.gov]
The individuals with LS show the characteristic features such as protruded forehead, saddle nose, blue sclera, and small hands and feet.
[alliedacademies.org]
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]
hand Disproportionately small hands 0200055 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Subvalvular aortic stenosis Narrowing of blood vessel below aortic heart
[rarediseases.info.nih.gov]
Central nervous system abnormalities, including small head size, intellectual disability, poor fine motor skills, or poor eye-hand coordination.
[myhealth.alberta.ca]
[…] and Cerebellar Atrophy Growth Mental Deficiency Syndrome of Myhre GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY Growth Retardation, Small
[rgd.mcw.edu]
Small hands and feet, hypogonadism. Fragile-X Syndrome Chromosomal Sex chromosome Progressively longer tandem repeats on the long arm of the X-chromosome.
[kumc.edu]
We studied a 35-year-old woman with geleophysic dysplasia, with short stature, small hands and feet, limitation of joint mobility, mild skin thickening, cardiac valvular disease
[ncbi.nlm.nih.gov]
The proposita's sister died of heart failure at 3 years and was reported by the mother to have been a tiny child with small hands.
[ncbi.nlm.nih.gov]
We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible
[ncbi.nlm.nih.gov]
57 Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small
[malacards.org]
hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.
[ncbi.nlm.nih.gov]
58 Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small
[malacards.org]
hands or feet, and missing fingers; • Seizures; • Gastroesophageal reflux; • Hearing loss; and • Vision abnormalities.
[secure.ssa.gov]
hands to missing fingers or forearms Cleft palate Diaphragmatic hernias, vision and hearing problems, excessive body hair (hirsutism), heart defects, seizures and dental
[chop.edu]
There is a lobster-claw deformity of the hand, small hands and feet with small and tapered digits, syndactyly between the second and third toes, proximal insertion of the
[whonamedit.com]
Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a
[ncbi.nlm.nih.gov]
[…] feet [ more ] 0001773 Short palm 0004279 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Umbilical hernia
[rarediseases.info.nih.gov]
Keywords Internal Medicine Metabolic Disease Short Stature Short Neck Small Hand These keywords were added by machine and not by the authors.
[link.springer.com]
[…] stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Thin upper lip vermilion Thin upper lip 0000219 Upslanted palpebral fissure Upward slanting of
[rarediseases.info.nih.gov]
hand ; Thin upper lip vermilion ; Thoracic hemivertebrae ; Thoracolumbar scoliosis ; Triangular mouth ; Umbilical hernia ; Vertebral fusion ; Wide anterior fontanel ; Wide
[mousephenotype.org]
They may have small hands and feet, fused vertebrae, and genital defects.
[wisegeek.com]
Physical examination disclosed followings: weight 45 kg (0.50 SDS ), height 143.7 cm (−0.83 SDS ), synophrys, arched eyebrows, low-set ears, and small squared hands.
[abstracts.eurospe.org]
[…] and legs with small hands and feet Short head, measured front to back Short height Small, upturned broad nose with flat bridge Distinct features of the face (short nose, open
[nlm.nih.gov]
This may show: Advanced bone age Bone deformities in hands and feet Delays in growth Problems with the skin, genitals, teeth, and skeleton Short arms and legs with small hands
[coordinatedhealth.com]
Dyshidrosis, which is also known as ‘acute vesiculobullous hand eczema’, is a skin condition causing small blisters on either the hands or feet.
[healthguidance.org]
[…] eczema," "pompholyx," and "podopompholyx") is a skin condition that is characterized by small blisters on the hands or feet.
[symcat.com]
Hand and foot dermatitis often first starts as small blisters (called dyshidrotic dermatitis).
[msdmanuals.com]
The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbed neck, small hands and feet, clinodactyly
[scholars.northwestern.edu]
hands and feet.
[doi.org]
Symptoms related to Pentasomy X include: Wide nasal bridge Intellectual disability Muscular hypotonia Cardiac septa abnormality Short foot Immune system symptoms Small hand
[familydiagnosis.com]
[…] eye * Small feet * Small hands * Small head * Small lower jaw * Strabismus * Sunken chest * Tooth abnormalities * Wide-set eyes Prevention - Chromosome 18p deletion syndrome
[checkorphan.org]
Alter Other significant hand signs (not reported inside the hand charts): In some individuals with 18p- relatively small hands may be present (source: NORD ).
[handresearch.com]
Other characteristic features include funnel chest, enlarged labia majora, micropenis, cryptorchidism, small hands and feet, and a short, webbed neck.
[cags.org.ae]
[…] stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Thin upper lip vermilion Thin upper lip 0000219 Upslanted palpebral fissure Upward slanting of
[rarediseases.info.nih.gov]
hands with clindodactyly and brachymesophalangy or achydactyly - of fifth finger (short fingers) - Small feet - Vertebral segmentation defects - Multiple rib anomalies -
[ibis-birthdefects.org]
The child had short lower arms with small hands and clinodactyly of the fifth finger.
[endocrine-abstracts.org]
Symbrachydactyly Symbrachydactyly is underdevelopment of the hand. Babies born with this condition have small or missing fingers.
[nyulangone.org]
The extra finger maybe located on the thumb side of the hand (radial), the small finger side of the hand (ulnar), or in the middle of the hand (central).
[orthopaedicsurgeon.com.sg]
Most commonly, the extra finger is rudimentary, consisting of an end phalanx with a nail, and connected to the hand with a small skin pedicle.
[boneandspine.com]
The hand muscles can become thinner (atrophy), so that the hand becomes "knuckly" and hollows develop between the small (metacarpal) bones of the centre of the hand.
[neuro-chirurgie.org]
It controls many small muscles in the hand and provides sensation to the ring and little fingers. When you hit your “funny bone,” you actually bump the ulnar nerve.
[neuroendomke.com]
It also controls most of the small hand muscles that help produce fine movements, as well as some of the larger muscles in the forearm used to form a strong grip.
[shorelineortho.com]
So he's just a man with small, small hands? Yes, exactly… small metacarpals. What should he do with this vital medical information?
[esquire.com]
These are the bones in the hands and feet that are third and fourth from the end of the digits. The result is small hands or feet.
[healthline.com]
Small fingernail is also separate from rest of hand. Simple syndactyly between small finger and rest of hand is present.
[emedicine.medscape.com]