Small hands with short and thin digits. Fig. 2.
[karger.com]
(very frequent sign) seizures (any type) (very frequent sign) short stature/dwarfism (very frequent sign) small foot (very frequent sign) small hand (very frequent sign) thin
[whonamedit.com]
The most prominent dysmorphic features were microcephaly, facial and dental anomalies, and small hands and feet. Bone age was markedly retarded.
[ncbi.nlm.nih.gov]
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.
[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
[scienceopen.com]
hands and feet, mild dysmorphology, and behavior problems which can be severe.
[curlie.org]
People with PWS have short stature, small hands and feet, and intellectual disability.
[urmc.rochester.edu]
[…] uncontrolled, hypogonadism and incomplete sexual development, developmental delays, variable degrees of mental retardation or functional retardation, short stature (adult), small
[curlie.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]
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]
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]
hands and feet, and at least two of the following: Low-set ears Widely spaced eyes Small lower jaw (mandible) Fifth-digit clinodactyly (curved pinky finger) Syndactyly or
[rarediseases.info.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 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]
MedGen UID: 108279 •Concept ID: C0575802 • Finding Disproportionately small hand.
[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]
In addition, we observed that all patients (100.0%) had small hands and feet.
[ncbi.nlm.nih.gov]
Two patients (50.0%) had small hands and feet.
[nature.com]
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]
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]
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 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]
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]
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]
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.
[pubmed.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]
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]
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]
hands and feet Small widely spaced teeth Low-set ears Hearing impairments Vision abnormalities (e.g., ptosis, nystagmus, high myopia, hypertropia) Partial joining of the
[bionity.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]
They may have small hands and feet, fused vertebrae, and genital defects.
[wisegeek.com]
hand ; Thin upper lip vermilion ; Thoracic hemivertebrae ; Thoracolumbar scoliosis ; Triangular mouth ; Umbilical hernia ; Vertebral fusion ; Wide anterior fontanel ; Wide
[mousephenotype.org]
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]
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]
(diarrhea, constipation, reflux and feeding difficulties), small hands, and curvature of the spine (scoliosis).
[diseaseinfosearch.org]
Some people may have skin problems, facial asymmetry (where traits don't mirror exactly the other side of the face), small hands, and an increased incidence of tumors.
[ninds.nih.gov]
Some girls also have skin problems, facial asymmetry, small hands, and an increased incidence of tumors.
[childneurologyfoundation.org]
hands with clindodactyly and brachymesophalangy or achydactyly - of fifth finger (short fingers) - Small feet - Vertebral segmentation defects - Multiple rib anomalies -
[ibis-birthdefects.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]
The child had short lower arms with small hands and clinodactyly of the fifth finger.
[endocrine-abstracts.org]
[…] 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]
Other characteristic features include funnel chest, enlarged labia majora, micropenis, cryptorchidism, small hands and feet, and a short, webbed neck.
[cags.org.ae]
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]
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]
Overview Causes Symptoms Diagnosis and Testing What is Congenital disorder of glycosylation (CDDG)? * This composite image of Congenital disorder of glycosylation; CDDG was created to help geneticists get a better analysis This genetic condition is also be known as deficiency of N-glycanase 1. This deficiency of[…]
[fdna.health]
