fifth fingers, prominent heels, and loose joints.
[ncbi.nlm.nih.gov]
Affected individuals may also have additional abnormalities including permanent fixation of certain fingers in a bent position (clinodactyly), unusually short fifth fingers
[healthetreatment.com]
short fifth fingers, prominent heels and joint hypermobility.
[ncbi.nlm.nih.gov]
5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Thickened helices 0000391 Ventricular septal
[rarediseases.info.nih.gov]
Distinct facial features including: Large anterior fontanel (~100% of patients) Small and pointed chin (~80%) Flat nasal bridge (~65%) Clinodactyly and/or short fifth finger
[en.wikibooks.org]
fifth fingers or fifth finger clinodactyly,2 4 9 17camptodactyly,11 17 and small hands and feet9 11 13 were noted in some patients.
[jmg.bmj.com]
Michels syndrome is characterized by blepharoptosis, blepharophimosis, epicanthus inversus, an anterior chamber defect, and a short fifth finger [5].
[cureus.com]
Postnatal growth retardation, Growth delay, Glaucoma, Short 5th finger, Short foot, Underdeveloped supraorbital ridges, Hydronephrosis, Highly arched eyebrow, Hypertelorism
[fdna.health]
finger, Intellectual disability, mild, Abnormality of eye movement, Lambdoidal craniosynostosis, Broad foot, Abnormal anterior chamber morphology, Cleft palate, Blepharophimosis
[fdna.health]
5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short philtrum 0000322 Shortening of all distal
[rarediseases.info.nih.gov]
[from OMIM] From HPO Short 5th finger MedGen UID: 334269 •Concept ID: C1842878 • Congenital Abnormality Hypoplasia (congenital reduction in size) of the fifth finger, also
[ncbi.nlm.nih.gov]
[…] nasal bridge [ more ] 0000426 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Short
[rarediseases.info.nih.gov]
Digital malformations of variable degree include hallux valgus, syndactyly of toes 4 and 5, short fifth fingers, single flexion crease of fifth fingers, polydactyly and synpolydactyly
[uniprot.org]
By x-ray, the hands showed a very short middle phalanx of the fifth finger.
[omim.org]
The fifth fingers were short with a single flexion crease, and the fourth finger lacked a distal interphalangeal crease.
[omim.org]
5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short neck Decreased length of neck 0000470
[rarediseases.info.nih.gov]
5th finger IEA IEA OMIM-CS:SKELETAL_HANDS > SHORT FIFTH FINGERS OMIM:615583 HPO:skoehler 06.02.2014 +OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION
[sourceforge.net]
[…] toes, overlying proximal thumbs, short fifth fingers with clinodactyly on the right digit, bilateral cervical ribs and an unfused arch of vertebra C7.
[nature.com]
The limb abnormalities in infants and children may include severe hypoplasia, syndactyly, and/or absence of certain fingers and toes (e.g., fifth digits and, in some cases
[accessanesthesiology.mhmedical.com]
Partial reduplication of hallux and first metatarsal, cuneiform, and cuboid bones; relatively short hands with clinodactyly of fifth finger; bilateral postaxial polydactyly
[obgynkey.com]
Hypoplasia of the ulna and radius causes the forearms to appear unusually short.
[accessanesthesiology.mhmedical.com]
Findings on the extremities include joint hyperextensibility, short and broad hands, interdigital webbing, a short fifth finger, clinodactyly and broad feet with bulbous toes
[ncbi.nlm.nih.gov]
5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short nose Decreased length of nose Shortened
[rarediseases.info.nih.gov]
short and broad hands, short fifth finger with clinodactyly, and shawl scrotum.
[ncbi.nlm.nih.gov]
We report on a girl with absent nails, short/absent distal phalanges of the second to fifth fingers and toes, short thumbs, absent halluces, and carpo-tarsal coalition who
[ncbi.nlm.nih.gov]
Limb anomalies include short first metacarpals of normal thickness, small distal phalanges of the thumbs, short middle phalanges of the fifth fingers, and fusion or delayed
[experts.umich.edu]
The changes included short first metacarpal and metatarsal, short fifth fingers with clinodactyly, trapezium-scaphoid fusion in the wrist, and cuneiform-navicular fusion in
[genome.jp]
fifth fingers, psychomotor retardation and dermatologic abnormalities.
[ncbi.nlm.nih.gov]
Other characteristic features of Kabuki syndrome include short stature and skeletal abnormalities such as abnormal side-to-side curvature of the spine (scoliosis), short fifth
[malacards.org]
All had Kabuki faces, cleft palate, developmental delay, mental retardation, and the short fifth finger.
[ncbi.nlm.nih.gov]
5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Situs inversus totalis All organs on wrong side
[rarediseases.info.nih.gov]
Median cleft palate Central cleft palate Midline cleft palate [ more ] 0009099 Plagiocephaly Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ] 0001357 Short
[rarediseases.info.nih.gov]
0200055 1%-4% of people have these symptoms 3-4 toe syndactyly Webbed 3rd-4th toes 0009779 Bifid uvula 0000193 Clinodactyly of the 5th finger Permanent curving of the pinkie finger
[rarediseases.info.nih.gov]
hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).
[malacards.org]
Symptoms * Tapered fingers * Hyperconvex nails * Webbed fifth fingers * Short end bones of fingers * Finger-like thumb Diagnosis It is proposed that the diagnosis of acrania
[checkorphan.org]
[…] association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers
[malacards.org]
Affected individuals may also have additional abnormalities including permanent fixation of certain fingers in a bent position (clinodactyly), unusually short fifth fingers
[rarediseases.org]
Affected individuals may have permanent fixation of certain fingers in a bent position (clinodactyly), abnormally short fifth fingers, and/or increased flexibility (hyperextensibility
[rarediseases.org]
Clinical characteristics included microcephaly, cortical atrophy, decreased gyral folding, short stature, fifth finger clinodactyly, syndactyly, brachydactyly, hypoplasia
[fdna.health]
Affected individuals may also have additional abnormalities including permanent fixation of certain fingers in a bent position (clinodactyly), unusually short fifth fingers
[rarediseases.org]
short fifth fingers.
[nature.com]
fifth fingers, prominent heels, and loose joints.
[ncbi.nlm.nih.gov]
fifth fingers with absent or hypoplastic nails.
[neurologyindia.com]
For example, certain fingers and toes (digits), particularly the fifth fingers (“pinkies”) and toes may be unusually short due to absence or underdevelopment (hypoplasia)
[rarediseases.org]
In this syndrome, the most frequent findings include: mental retardation, coarse facial features, short stature, hirsutism, hypotonia, short fifth fingers, hypoplastic nails
[jmedicalcasereports.biomedcentral.com]
[…] with or without malocclusion, a crease below the lower lip, abnormal auricles with fleshy lobules, short and broad hands, short fifth fingers with clinodactyly and a shawl
[cjhr.org]
Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some
[encyclopedia.pub]
[…] tubular bones with broad metaphyses, brachyphalangy, hypoplastic middle phalanges of the fifth finger, pelvic hypoplasia,[11] anomalies of the cervical vertebrae, which consist
[cjhr.org]
Symptoms * Short stature * Short nose * Small nose * Short neck * Stillbirth * Small jaw * Short head * Cleft palate * Curved fifth finger * Depressed nasal bridge * Abnormal
[checkorphan.org]
finger defects and various other anomalies.
[checkorphan.org]
Overview A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature
[checkorphan.org]
fingers and toes with mild webbing Single crease in the palm of the hand Small, broad hands and feet with short fingers and curved-in fifth finger Small nose with nostrils
[mountsinai.org]
Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some
[ghr.nlm.nih.gov]
[…] height which may not be obvious until the child is 1 to 3 years old Poorly developed middle section of the face Rounded face Scrotum surrounds the penis (shawl scrotum) Short
[mountsinai.org]
fifth fingers with absent or hypoplastic nails.
[neurologyindia.com]
For example, certain fingers and toes (digits), particularly the fifth fingers (“pinkies”) and toes may be unusually short due to absence or underdevelopment (hypoplasia)
[rarediseases.org]
Considering the patient’s short stature of 89.5 cm, which is also assessed as −1 SD, it can be concluded that the proband’s fifth fingers are proportional to his height and
[nature.com]
[…] nose, brachydactyly, fifth finger clinodactyly, short stature, and genitourinary abnormalities (shawl scrotum, cryptorchidism).
[exeterlaboratory.com]
[…] or without malocclusion, a crease below the lower lip, abnormal auricles with fleshy lobules, short and broad hands, short fifth fingers with clinodactyly, and a shawl scrotum
[jmgims.co.in]
fingers and toes with mild webbing Single crease in palm of hand Small, broad hands and feet with short fingers and curved-in fifth finger Small nose with nostrils tipped
[dxline.info]
Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly.
[ncbi.nlm.nih.gov]
[…] microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short
[ncbi.nlm.nih.gov]
fifth fingers with absent or hypoplastic nails.
[neurologyindia.com]
For example, certain fingers and toes (digits), particularly the fifth fingers (“pinkies”) and toes may be unusually short due to absence or underdevelopment (hypoplasia)
[rarediseases.org]
Considering the patient’s short stature of 89.5 cm, which is also assessed as −1 SD, it can be concluded that the proband’s fifth fingers are proportional to his height and
[nature.com]
fifth fingers with absent or hypoplastic nails.
[neurologyindia.com]
For example, certain fingers and toes (digits), particularly the fifth fingers (“pinkies”) and toes may be unusually short due to absence or underdevelopment (hypoplasia)
[rarediseases.org]
Figure 1: Characteristic hypoplastic fifth-finger terminal phalanx in Coffin-Siris syndrome.
[journals.lww.com]
For example, certain fingers and toes (digits), particularly the fifth fingers (“pinkies”) and toes, may be unusually short due to absence or underdevelopment (hypoplasia)
[rarediseases.org]
This condition is characterized by delayed development, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features that are described as coarse
[encyclopedia.pub]
Considering the patient’s short stature of 89.5 cm, which is also assessed as −1 SD, it can be concluded that the proband’s fifth fingers are proportional to his height and
[nature.com]
[…] leg and a limp Underdeveloped iliac wing (pelvic bone) Hands Brachydactyly: short fingers Long second metacarpal (hand bone) Short middle bones of second and fifth fingers
[ccdsmiles.org]
Radiographs show persistently open (or delayed closure of) skull sutures and fontanelle with bulging of the calvarium, short middle phalanx of the fifth finger, and characteristic
[accessanesthesiology.mhmedical.com]
More than 100 additional anomalies may be associated, including wide pubic symphysis, dental abnormalities, short middle phalanges of the fifth fingers, delayed skeletal maturation
[wikidoc.org]
[…] or without malocclusion, a crease below the lower lip, abnormal auricles with fleshy lobules, short and broad hands, short fifth fingers with clinodactyly, and a shawl scrotum
[jmgims.co.in]
[…] with or without malocclusion, a crease below the lower lip, abnormal auricles with fleshy lobules, short and broad hands, short fifth fingers with clinodactyly and a shawl
[cjhr.org]
Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some
[ghr.nlm.nih.gov]
For example, certain fingers and toes (digits), particularly the fifth fingers (“pinkies”) and toes may be unusually short due to absence or underdevelopment (hypoplasia)
[rarediseases.org]
The most common clinical features are: short fifth fingers and/or toes absent or under-developed nails on the fifth fingers and/or toes characteristic facial features (thick
[contact.org.uk]
In this syndrome, the most frequent findings include: mental retardation, coarse facial features, short stature, hirsutism, hypotonia, short fifth fingers, hypoplastic nails
[jmedicalcasereports.biomedcentral.com]
In individuals with PIGN pathogenic variants, short thumbs and fingers (most pronounced for the fifth finger), short toes, and small or absent nails were reported.
[ncbi.nlm.nih.gov]
Small nails and short terminal phalanges of the fingers and toes are frequent and useful diagnostic findings in Fryns syndrome.
[ncbi.nlm.nih.gov]
