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]
She had growth retardation: weight: 3 kg (-3SD), length:50 cm (-3SD), head circumference: 34 cm (-3SD), associated with dysmorphic features including small hands and feet,
[ncbi.nlm.nih.gov]
All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism
[apps.who.int]
Small hands with short and thin digits. Fig. 2.
[karger.com]
hands and feet.
[ebi.ac.uk]
hands and feet. [ NCIT : C130992 ] Tree view Term mappings Preferred root terms All terms This is just here as a test because I lose it Term information Subsets gard_rare
[ebi.ac.uk]
All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism
[apps.who.int]
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]
Description A syndrome characterised by pre and postnatal muscular hypotonia, thus giving an appearance of severe brain damage; obesity, low intelligence, small hands and
[web.archive.org]
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]
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]
Hypertelorism, small mandible, tooth crowding, and small hands were also observed. Table 1 provides a summary of the clinical characteristics of our patients. Table 1.
[frontiersin.org]
Additional findings include small hands and feet, loose joints, and abnormal sideways curvature of the spine (scoliosis).
[rarediseases.org]
Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger
[orpha.net]
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]
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]
[…] 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]
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]
hand (小さな手) [HP:0200055] [15200] Stereotypy (常同性) [HP:0000733] [02202] Strabismus (斜視) [HP:0000486] [06610] Visual impairment (視力障害) [HP:0000505] [06011] (UR-DBMS) 【一般
[syndromefinder.ncchd.go.jp]
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]
Small pits on the palms of the hand and soles of the feet are one of the major criteria of Gorlin syndrome.
[gorlinsyndrome.org]
She played with toys, held objects in her hands, collected pyramids, and transferred small objects.
[dovepress.com]
These include: An exam of the patient’s skin for basal cell carcinomas, pitting on hands and feet, areas of skin discoloration, and small cysts (milia) around the eyes and
[gorlinsyndrome.org]
Joint mobility was decreased, especially in the hands and elbows. He had very small hands and feet, and a voluminous inguinal hernia was present.
[scielo.br]
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]
hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.
[pubmed.ncbi.nlm.nih.gov]
hands and feet, joint laxity, and large ears with thick helices.
[civilica.com]
including low-birth weight, microcephaly, cerebral atrophy, mild-to-severe developmental delay, cleft palate, Persistent hyperplastic primary vitreous, microphthalmia, small
[sid.ir]
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]
Many children have limb abnormalities, ranging from having small hands and particularly short thumbs in mild cases, to almost complete absence of the forearms in severe cases
[contact.org.uk]
hands or feet, and missing fingers; • Seizures; • Gastroesophageal reflux; • Hearing loss; and • Vision abnormalities.
[secure.ssa.gov]
Some girls also have skin problems, facial asymmetry, small hands, and an increased incidence of tumors.
[childneurologyfoundation.org]
[…] 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
[medlineplus.gov]
Conclusion: Acrodysostosis should be kept in mind and appropriately evaluated when hormone resistance is detected in cases who presented with small hands and feet as well
[abstracts.eurospe.org]
Dyshidrosis is a skin condition in which small, fluid-filled blisters appear on the hands and feet.
[forums.phoenixrising.me]
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]
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]
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]
Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.
[pubmed.ncbi.nlm.nih.gov]
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.[…]
[books.google.com]
ABSTRACT BACKGROUND: Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals
[pesquisa.bvsalud.org]