Clinically, PSACH is characterised by short limbed dwarfism, which first becomes apparent in infancy, short fingers, ligamentous laxity, scoliosis, and early onset osteoarthritis
[jmg.bmj.com]
Other known clinical features include, genu valgum/varum, brachydactyly (short fingers), supple flexion deformity of the hips, knees, hyperlordosis of lumbar spine, rocker
[en.wikipedia.org]
[…] the radioclinical similarities between pseudoachondroplasia and multiple epiphyseal dysplasia, the latter is less severe. [3] Signs and symptoms [ edit ] Disproportionate short
[en.wikipedia.org]
fingers are stubby Average adult height is about 4 feet tall Achondroplasia 1.
[slideshare.net]
In those afflicted with the disorder, the limbs are very short (fingers reach only to the hips), but the trunk is almost normal in size.
[britannica.com]
fingers are stubby § Average adult height is about 4 feet tall 9 8. 10 9. 11 10. 12 11. 13 12. 14 13. 15 14. 16 15. 17 16. 19 17. 20 18. 21 19. § https://en.wikipedia.org
[slideshare.net]
Since the autosomal dominant Saethre-Chotzen syndrome may show similar cranio-facial features, short fingers with non-obligatory cutaneous syndactyly, and ossification defects
[ncbi.nlm.nih.gov]
[…] wide head, one coronal suture affected: Plagiocephaly = an asymmetrical head); droopy eyelids (ptosis); short fingers, joining of the fingers (syndactyly) and broad toes
[headlines.org.uk]
Patients typically present with a low set hairline and short fingers and toes in addition to the skull deformities.
[ippcs.org]
[…] distal phalanx of finger Short outermost finger bone 0009882 Short distal phalanx of the 2nd finger Short outermost bone of the index finger 0009566 Short distal phalanx
[rarediseases.info.nih.gov]
Symptoms - Spondyloperipheral dysplasia short ulna * Flattened vertebra * Short hands * Short feet * Short ulna * Short stature * Bowed forearms * Short fingers * Pelvis anomaly
[checkorphan.org]
[…] of the 3rd finger Short outermost bone of the middle finger 0004180 Short distal phalanx of the 4th finger Short outermost bone of ring finger 0009290 Short distal phalanx
[rarediseases.info.nih.gov]
Additionally, people with EDS, dermatosparaxis type have problems with bones, such as short fingers and improperly closing fontanels.
[sharecare.com]
[…] an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short
[uniprot.org]
Neoplasm Uncommon - Between 30% and 50% cases Brachydactyly Rare - less than 30% cases Disproportionate short-limb short stature Rare - less than 30% cases Accelerate your
[mendelian.co]
finger 60 33 frequent (33%) Frequent (79-30%) HP:0009381 23 atresia of the external auditory canal 60 33 frequent (33%) Frequent (79-30%) HP:0000413 24 short metacarpal 60
[malacards.org]
Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.
[orpha.net]
[…] stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Basal ganglia calcification 0002135 Brachydactyly Short fingers or toes
[rarediseases.info.nih.gov]
Round face and short neck Short hand bones, especially the bone below the 4th finger Short height Your health care provider will recommend calcium and vitamin D supplements
[nlm.nih.gov]
[…] eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short fingers short metacarpals (3rd-5th) Skin Nails Hair Skin: albinoidism Head And Neck Eyes: cataract
[malacards.org]
Short phalanx of finger MedGen UID: 163753 • Concept ID: C0877165 • Finding Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
[ncbi.nlm.nih.gov]
[…] foot Gastric ulcer Intussusception Pseudohypoparathyroidism Short distal phalanx of the 5th finger Hypoplastic fifth fingernail Lumbosacral hirsutism Short distal phalanx
[mendelian.co]
[…] stature with a long trunk and short limbs, broad and short fingers; the face is normal in appearance. hy·po·chon·dro·pla·si·a ( hī'pō-kon'drō-plā'zē-ă ), [MIM*146000] A skeletal
[medical-dictionary.thefreedictionary.com]
It is characterized by rhizomelic dwarfism, trident hands and short fingers, midface hypoplasia with macrocephaly and frontal bossing.
[ctgt.net]
[…] limbs, especially the upper limbs; short fingers and toes; broad hands Large head Bowed legs Decreased muscle tone Loose joints, limited motion range of the joints Some features
[dovemed.com]
5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short columella 0002000 Short middle phalanx
[rarediseases.info.nih.gov]
Intellectual challenges Intellectual disabilities ranging from mild to moderate Finger tip pads Prominent finger tip pads Short stature Postnatal growth deficiency Skeletal
[parentingspecialneeds.org]
(pinky) fingers, or problems with the hip and knee joints.
[malacards.org]
Short fifth finger Sacral dimple Puffy hand and foot Constipation Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Low hair line Developmental delay Intellectual
[databases.lovd.nl]
[…] middle phalanx of finger Short middle bone of finger 0005819 Short stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ]
[rarediseases.info.nih.gov]
Strabismus Low nasal bridge Dysmorphic ears Upper vermillion border, thin High-arched palate Long philtrum Widely spaced teeth Downturned corners of the mouth Micrognathia Brachydactyly
[databases.lovd.nl]
Short phalanx of finger Short finger bones 0009803 Short tibia Short shinbone Short skankbone [ more ] 0005736 Single transverse palmar crease 0000954 Square face Square
[rarediseases.info.nih.gov]
[…] neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745
[rarediseases.info.nih.gov]
0004964 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Pursed lips Tightly closed lips 0000205 Respiratory insufficiency Respiratory impairment 0002093 Short
[rarediseases.info.nih.gov]
Short phalanx of finger MedGen UID: 163753 •Concept ID: C0877165 • Finding Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
[ncbi.nlm.nih.gov]
[…] with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications
[ncbi.nlm.nih.gov]
[…] subluxation Long fibula Metatarsus adductus Micromelia Short metacarpal Short phalanx of finger Triangular shaped distal phalanges of the hand Abnormality of the eye Hypertelorism
[ncbi.nlm.nih.gov]
fingers, single transverse crease in the right hand, and hypotonia.
[ashg.org]
[…] phalanx of finger Short finger bones 0009803 Short toe Short toes Stubby toes [ more ] 0001831 Single transverse palmar crease 0000954 Small scrotum Underdeveloped scrotum
[rarediseases.info.nih.gov]
/toes, and unusually short arms and legs).
[secure.ssa.gov]
Short phalanx of finger MedGen UID: 163753 •Concept ID: C0877165 • Finding Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
[ncbi.nlm.nih.gov]
Saldino A combination of renal dysplasia, pigment dystrophy of cornea, cerebellar ataxia, and skeletal dysplasia with cone-shaped epiphyses of the fingers and toes, and short
[whonamedit.com]
The middle phalanges of the hands and feet often have cone-shaped epiphyses, especially notable in childhood and leading to brachydactyly.
[disorders.eyes.arizona.edu]
[…] phalanx of finger Short toe Tapered finger Camptodactyly (bent fingers that cannot be straightened) Congenital hip dislocation Intellectual disability that is typically mild
[dovemed.com]
Autistic behavior Delay in speech and language development Short attention span How is Chromosome 16p13.3 Duplication Syndrome Diagnosed?
[dovemed.com]
[…] abnormalities such as: Atrial septal defect Ventricular septal defect Pectus excavatum Hand and foot deformities including: High arched feet (pes cavus) Proximal placement of thumb Short
[dovemed.com]
Finger joint hypermobility MedGen UID: 154359 • Concept ID: C0574974 • Finding Short phalanx of finger MedGen UID: 163753 • Concept ID: C0877165 • Finding Short (hypoplastic
[ncbi.nlm.nih.gov]
The elder sibling was a 15-year-old girl with short fingers at birth. Later a delay in all motor milestones and a gradual loss of scalp hair were noticed.
[indianpediatrics.net]
[…] long bone Wormian bones Gynecomastia Wide anterior fontanel Gingival overgrowth Bowing of the long bones Short phalanx of finger Mitral valve prolapse Delayed eruption of
[mendelian.co]
Children usually develop joint contractures (stiff joints), kyphosis (a "hunchback" curve of the spine), and broad hands with short fingers.
[encyclopedia.com]
[…] bones are also affected, with these children usually developing joint contractures (stiff joints), kyphosis (a specific type of curve to the spine), and broad hands with short
[medical-dictionary.thefreedictionary.com]
broad hands with stiff, curled fingers He'll probably have these symptoms: Joint problems that make it hard to move Numbness, weakness, and tingling in his hands A lot of
[webmd.com]
Other skeletal signs include enlarged joints, short hands and fingers, and flat bones of the spine ( vertebrae ).
[en.wikipedia.org]
Other skeletal features include enlarged joints; short arms, hands, and fingers ; and flattened bones of the spine (platyspondyly).
[ghr.nlm.nih.gov]
People with the condition are often shorter than average because the bones in their arms and legs are unusually short.
[en.wikipedia.org]
Typically, symptoms include short stature, hairiness, stiff finger joints, and coarseness of the face.
[msdmanuals.com]
[…] wide nostrils Thick, tough skin Short, broad hands with curving fingers Knock-knees and walking on toes Curved spine Continued MPS I can show up in a lot of different ways
[webmd.com]
They also tend to look similar: Shorter than average, with stocky build Large head, bulging forehead Thick lips, widely spaced teeth, and large tongue Short, flat nose with
[webmd.com]
finger clinodactyly short fingers ulnar defects radial defects bifid thumbs hypoplastic thumbs syndactyly absent thumbs hypoplastic thumbs ulnar deviation of 1st, 3rd fingers
[humpath.com]
[…] phalanx of finger Short finger bones 0009803 Short thumb Short thumbs Small thumbs [ more ] 0009778 Thrombocytopenia Low platelet count 0001873 Ulnar deviation of the 3rd
[rarediseases.info.nih.gov]
Short fingers. Nail changes. Skin features. About 7 in 10 girls with Turner syndrome have a lot of moles and obvious blood vessels over the skin.
[patient.info]
Most common hand and foot abnormalities are broad or short fingers and brachymetacarpalia5,12.
[nature.com]
Proptosis, globe displacement, lower eyelid retraction, optic neuropathy, striae of macula, marcus-gunn pupil AD SH3BP2 #118400 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY
[eyewiki.aao.org]
Occasional features include short thumbs, fifth finger clinodactyly, malformed cervical vertebrae and mild mental retardation.
[ncbi.nlm.nih.gov]
Common symptoms include: Malformation of the big toe and thumbs Abnormally short toes and fingers Malformation of the upper spinal column Short and broad femoral necks Difficulty
[jamaicahospital.org]
Other features of FOP can include short thumbs, fifth finger clinodactyly (pinkie curved toward the thumb), malformed cervical (neck) vertebrae, short broad neck of the femur
[medicinenet.com]
The physical examination revealed sparse, fine and brittle hair, shortened limbs, moderate varus bowing of the femurs, and short fingers.
[analesdepediatria.org]
short stature (present in 100% of affected adults; prenatal onset in 76%-93%) Short fingers and toes Bowed femora and tibiae (present in 77%) Laxity of ligaments with hypermobility
[ncbi.nlm.nih.gov]
Physical examination showed a height of 62 cm (−9.6 SD), weight of 8620 g (−3.34 SD), shortening of upper and lower extremities, thick hands and short fingers.
[analesdepediatria.org]
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]
Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.
[ncbi.nlm.nih.gov]
Short fingers and toes, with mild webbing of skin between two digits.
[primehealthchannel.com]
I have written several times about symbrachydactyly - that is short, webbed fingers.
[congenitalhand.wustl.edu]
It consists of short fingers (brachy-), which can be linked together (syn-of syndactyly).
[cirugiamanoinfantil.com]
Definition abnormally short digits Synonyms short toes short toes short fingers short fingers short digits Show more Related Synonyms Brachydactyly Brachydactyly Brachytelomesophalangy
[mousephenotype.org]
[…] distal phalanx of finger Short outermost finger bone 0009882 Short metacarpal Shortened long bone of hand 0010049 Ventriculomegaly 0002119 Wide mouth Broad mouth Large mouth
[rarediseases.info.nih.gov]
Individuals with Coffin-Lowry syndrome may have physical features such as large hands with short, thin fingers, short stature, small/underdeveloped upper jaw, prominent brow
[ideas.org.au]
Those affected with Coffin-Lowry are also likely to be shorter in stature with increased spine curvature and have short fingers.
[disability-benefits-help.org]
He recognised that although ectopia lentis was a feature of the Marfan syndrome, the patients whom he had studied had short fingers rather than arachnodactyly.
[whonamedit.com]
The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness.
[rarediseases.oscar.ncsu.edu]
Systemic Manifestation of Weill Marchesani Syndrome 1- Short stature. 2- Joint stiffness. 3- Brachydactyly. Short fingers and Toes. 4- Mental Retardation.
[webeyeclinic.com]
I have written several times about symbrachydactyly - that is short, webbed fingers.
[congenitalhand.wustl.edu]
It consists of short fingers (brachy-), which can be linked together (syn-of syndactyly).
[cirugiamanoinfantil.com]
I have short fingers and a normal thumb. Living with this condition hasn't slowed me down at all.
[healdove.com]
Causes Other Possible Causes of these Symptoms * Curved spine * Short fingers * Short toes Diagnosis These home medical tests may be relevant to Brachydactyly - scoliosis
[checkorphan.org]
[…] listed below: * Short fingers * Short toes * Curved spine * Fused wrist bones Note that Brachydactyly - scoliosis - carpal fusion symptoms usually refers to various symptoms
[checkorphan.org]
Orphanet: 58 A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals
[malacards.org]
