Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some
hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.
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
[…] bridges, external ear anomalies, small hands and feet, short stature, and learning difficulties [ 6 ].
[…] bridges, external ear anomalies, small hands and feet, short stature, and learning difficulties .
All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism
hands * Small feet * Hypoparathyroidism Causes - Kenny-Caffey syndrome- Type 1 Not supplied.
hands and feet, hypocalcaemia, hypoparathyroidism, radiologic evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull
hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes
hands and feet, mild dysmorphology, and behavior problems which can be severe.
Down stated "Her feet and hands remained small and contrasted remarkably with the appendages they terminated.
It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity
Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic
hands and bone defects, sunlight sensitivity, hypogonadism, defective dentition, nail abnormality, hyperkeratosis, and mental retardation.
hand Disproportionately small hands 0200055 Syncope Fainting spell 0001279 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Triangular face Face with broad temples
Additional findings include small hands and feet, loose joints, and abnormal sideways curvature of the spine (scoliosis).
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.
Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger
hand Disproportionately small hands 0200055 Sparse hair 0008070 Synophrys Monobrow Unibrow [ more ] 0000664 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182
[…] 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
hand Talipes equinovarus Abnormality of the musculature ... ...
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
[…] anomalies clubfoot syndrome Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome Short stature-pituitary and cerebellar defects-small sella
hands and feet.
]; Small hands; [Feet]; Small feet MUSCLE, SOFT TISSUE: Hypotonia NEUROLOGIC: [Central nervous system]; Seizures, infantile-onset; Hypsarrhythmia; Mental retardation, profound
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
In addition, we observed that all patients (100.0%) had small hands and feet.
CONCLUSIONS: Patients with AADC deficiency in Taiwan have particular clinical manifestations of small hands and feet, which have rarely been mentioned in the literature.
[…] feet [ more ] 0001773 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Tapered finger Tapered fingertips
hand / acromicria - Small / hypoplastic / adherent / absent ear lobe - Spindle shaped fingers - Striae - Synophris / synophrys - Tapered fingers - Thick / bushy eyebrows
The characteristic appearance includes short stature, a small rounded head flattened posteriorly, broadening of the neck, slanting eyes, a flattened nose, small broad hands
hands and ears, and that has been seen in one family to date.
March 2006 GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small
Upon examination she was noted to have protruded forehead, thin hair, small hands and feet, and a saddle nose.
hands and feet, hypoplastic nails Tsezou et al ., 2000 [ 4 ] p12-p24 tandem - Brachycephaly - Psychomotor delay - High forehead, hypertelorism, epicanthus, deep-set eyes,
The individuals with LS show the characteristic features such as protruded forehead, saddle nose, blue sclera, and small hands and feet.
hand Disproportionately small hands 0200055 Smooth philtrum 0000319 Splenomegaly Increased spleen size 0001744 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Telangiectasia
hand Not very common - Between 30% and 50% cases High, narrow palate And 72 more phenotypes.
[…] activity 0004855 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retinopathy Noninflammatory retina disease 0000488 Short palm 0004279 Small
hand Disproportionately small hands 0200055 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Subvalvular aortic stenosis Narrowing of blood vessel below aortic heart
Central nervous system abnormalities, including small head size, intellectual disability, poor fine motor skills, or poor eye-hand coordination.
[…] and Cerebellar Atrophy Growth Mental Deficiency Syndrome of Myhre GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY Growth Retardation, Small
Small hands and feet, hypogonadism. Fragile-X Syndrome Chromosomal Sex chromosome Progressively longer tandem repeats on the long arm of the X-chromosome.
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.
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
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
57 Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small
hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.
58 Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small
hands or feet, and missing fingers; • Seizures; • Gastroesophageal reflux; • Hearing loss; and • Vision abnormalities.
hands to missing fingers or forearms Cleft palate Diaphragmatic hernias, vision and hearing problems, excessive body hair (hirsutism), heart defects, seizures and dental
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
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
[…] feet [ more ] 0001773 Short palm 0004279 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Umbilical hernia
Keywords Internal Medicine Metabolic Disease Short Stature Short Neck Small Hand These keywords were added by machine and not by the authors.
[…] stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Thin upper lip vermilion Thin upper lip 0000219 Upslanted palpebral fissure Upward slanting of
hand ; Thin upper lip vermilion ; Thoracic hemivertebrae ; Thoracolumbar scoliosis ; Triangular mouth ; Umbilical hernia ; Vertebral fusion ; Wide anterior fontanel ; Wide
They may have small hands and feet, fused vertebrae, and genital defects.
Dyshidrosis is a skin condition in which small, fluid-filled blisters appear on the hands and feet.
Dyshidrosis, which is also known as ‘acute vesiculobullous hand eczema’, is a skin condition causing small blisters on either the hands or feet.
[…] eczema," "pompholyx," and "podopompholyx") is a skin condition that is characterized by small blisters on the hands or feet.
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.
[…] 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
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
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
hands and feet.
Symptoms related to Pentasomy X include: Wide nasal bridge Intellectual disability Muscular hypotonia Cardiac septa abnormality Short foot Immune system symptoms Small hand
First published in 1986 under the editorial direction of Dr. Henry J.M. Barnett, Stroke: Pathophysiology, Diagnosis, and Management continues to provide the dependable, current answers you need to effectively combat the increasing incidence of this disease. Dr. J.P. Mohr, together with new associate editors Philip A.[…]
Published on 05-Jun-2016 View 214 Download 2 Transcript Letter to the EditorNot a New Seckel-Like Syndrome ButEar-Patella-Short Stature SyndromeTo The Editor:We read with interest the article of Buebel et al. describing presumably a new Seckel-like syn-drome of primordial dwarfism in two unrelated chil-dren.[…]
hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition).
WORLD HEALTH ORGANIZATION ICD-10: I28 WORLD HEALTH ORGANIZATION ICD-10: I28 This syndrome has characteristics of severe short stature with disproportionately short legs, small
[…] feet [ more ] 0001773 Small basal ganglia 0012697 Small hand Disproportionately small hands 0200055 Spastic diplegia 0001264 Spastic tetraplegia 0002510 Stereotypy Repetitive
[…] of skull Rhomboid shaped skull [ more ] 0001357 Seizure 0001250 Short attention span Poor attention span Problem paying attention [ more ] 0000736 Short foot Short feet Small
hand Disproportionately small hands 0200055 Synophrys Monobrow Unibrow [ more ] 0000664 Wide mouth Broad mouth Large mouth [ more ] 0000154 30%-79% of people have these symptoms
Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Short neck Decreased length of neck 0000470 Short palm 0004279 Short philtrum 0000322 Small