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Turner Syndrome
Many patients have hypoplastic or hyperconvex nails. Excessive numbers of nevi, when compared to other members of the family, is usual.[symptoma.com]
In infants, the combination of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes.[emedicine.medscape.com]
Nails: Many patients have hypoplastic or hyperconvex nails. Although these are not a clinical problem, they are rarely seen in other patients.[emedicine.medscape.com]
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Nail-Patella Syndrome
The most common clinical findings are a hypoplastic patella, elbow dysplasia, iliac horns, and hypoplastic nails.[journals.lww.com]
Clinically, the key feature is absent/hypoplastic nails from birth. Individuals may have flexion contractures and recurrent knee dislocations .[radiopaedia.org]
[…] doi: 10.2106/JBJS.JOPA.17.00004 Review Article Abstract Author Information Authors Article Metrics Metrics Nail-patella syndrome (NPS) is an autosomal-dominant dysmorphic[journals.lww.com]
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Epidermolysis Bullosa
Hypoplastic enamel formation causes tooth decay. Nail dystrophy and alopecia are also common. They have a normal life expectancy and ability to reproduce.[patient.info]
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Trachonychia
[…] or absent • Renal involvement • Infection • Chronic paronychia caused by • Dorsal pterygium – Proximal nail fold scarring – Ventral nail plate and hyponychium fused – Congenital[brainscape.com]
Steatocystoma multiplex • Natal teeth • No leukokeratosis • I, II, III and laryngeal disease, MR and amyloid Acute paronychia cause #1 – Proximal white subungual • Patellae hypoplastic[brainscape.com]
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Larsen's Syndrome
Note the broad spatulate thumb and altered hand position due to the short metacarpals (upper photo), and the big toe and hypoplastic nails (lower photo). Figure 3.82.[myfertilityguide.biz]
Note the broad spatulate thumb and altered hand position due to the short metacarpals (upper photo), and the big toe and hypoplastic nails (lower photo). Figure 3.83.[myfertilityguide.biz]
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Diffuse Palmoplantar Keratoderma
[…] dystrophy), Huriez syndrome (scleroatrophic changes on the dorsal aspect of the hands and hypoplastic nails in addition to the PPK).[indianpediatrics.net]
[…] syndrome (focal keratoderma on pressure sites, leukokeratosis of the oral mucosa and esophageal cancer); Clouston syndrome (hidrotic ectodermal dysplasia, hypotrichosis and nail[indianpediatrics.net]
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Haddad Syndrome
nails and dysmorphic facial features (MIM.235760) type D brachydactyly (MIM.306980) ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect (MIM.235750[humpath.com]
Hirschsprung’s disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome? J Med Genet 1988; 25: 758-761. 39.[indianpediatrics.net]
[…] hypertelorism, deafness (MIM.235740) postaxial polydactylt, ventricular septal defect (MIM.235750) heart defects, laryngeal anomalies and preaxial polydactyly (MIM.604211) hypoplastic[humpath.com]
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Rhizomelic Chondrodysplasia Punctata Type 3
Others • Chromosomal - Trisomy 21 & 18 – stippling in sacrococcyx / calcaneo talus • Maternal SLE – hypoplastic nails, hypoplasia of facial bones, short distal phalanges,[slideshare.net]
nails, distal phalanges, cleft lip/palate cardiac Short terminal phalanges Craniosynostosis Vertebral saggital clefts Thyroid, sacrococcyx, periarticular Combined def of[slideshare.net]
Fetal warfarin syndrome flat nasal bridge,cataract cardiac defects, upper airway obst Shortening of limbs, short broad phalanges & metacarpals Generalized Fetal phenytoin Hypoplastic[slideshare.net]
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Brain Calcification Type Rajab
She had hypoplastic nails in all digits, hyperlaxity of joints in upper and lower limbs, with associated skin laxity.[jpgmonline.com]
[…] brachymelia with brachydactyly, camptodactyly [Figure:2}, mid-thoracic scoliosis with hemivertebrae and rib crowding [Figure - 3] , and genital anomalies in the form of hypoplastic[jpgmonline.com]
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Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia
Hair Nails: absent/hypoplastic nails Head And Neck Neck: short neck torticollis branchial pits Genitourinary External Genitalia Male: inguinal hernia hypospadias bifid scrotum[malacards.org]
The nails are thin and atrophic. The facial skeleton is reduced in size, and the mandible and maxilla are hypoplastic.[healio.com]
[…] radius short ulna joint contractures (elbows and knees) mesomelic lower limb shortening more Genitourinary External Genitalia Female: absent labia majora small clitoris Skin Nails[malacards.org]