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10 Possible Causes for Cataract, Clinodactyly of Fifth Digit, Prominent High Nasal Root

  • Renpenning Syndrome

    Abnormality of the hair ; Abnormality of the rib cage ; Anal atresia ; Ankylosis ; Anxiety ; Atrial septal defect ; Blindness ; Brachycephaly ; Bulbous nose ; Camptodactyly ; Cataract[mousephenotype.org] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org] Cataract MedGen UID: 368085 • Concept ID: C1962983 • Finding A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.[ncbi.nlm.nih.gov]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    ; 612018; SLC16A12 Cataract, juvenile-onset; 604219; BFSP2 Cataract, lamellar 2; 610425; CRYBA4 Cataract, lamellar; 116800; HSF4 Cataract, Marner type; 116800; HSF4 Cataract[howlingpixel.com] Fifth digit clinodactyly is often present, and less commonly, fusion of the phalanges is observed [ 39 ••].[link.springer.com] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal[rarediseases.info.nih.gov]

  • Mirhosseini-Holmes-Walton Syndrome

    Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.[doi.org] […] of the fourth and fifth fingers associated with bony ... 693 Robin sequence with facial and digital anomalies in two half-brothers by the ...[biomedsearch.com] Characteristic facial features (high-arched or wave-shaped eyelids, thick hair, low hairline, short philtrum as well as long-thick eyelashes, prominent nasal root and upper[findzebra.com]

  • Raine Syndrome

    […] epilepsy Hutterite cerebroosteonephrodysplasia syndrome Ayazi syndrome Male pseudohermaphroditism due to defective LH molecule Omenn syndrome Early-onset anterior polar cataract[checkrare.com] […] fingers with clinodactyly, digital webbing, abnormal hand creases, short toes, long broad medially deviated halluces,hypoplastic scrotum, cryptorchidism, hypospadias, open[chr7.org] Case 2: brachycephaly, bilateral epicanthal folds, midface and nasal root hypoplasia with absence of nasal crest and micrognathia.[bmcmedgenet.biomedcentral.com]

  • Wolf-Hirschhorn Syndrome

    […] palpebral fissures Epicanthal folds Strabismus Coloboma Proptosis due to hypoplasia of orbital ridges Ectopic pupils Exotropia Ptosis Microphthalmia Megalocornea Sclerocornea Cataracts[emedicine.medscape.com] digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia, wide gap between first and second toes (sandal gap), short stature GI : duodenal and anorectal[pathophys.org] Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com]

  • Trisomy 18p

    Some affected infants also have clouding of the normally transparent front regions of the eyes (corneas); loss of transparency of the lenses (cataracts); absence or defects[rarediseases.org] Single palmar crease and clinodactyly of the fifth fingers may also be present (2,16). The nails are hypoplastic.[scielo.br] She was noted to have dysmorphic features (prominent occiput, high-arched palate, short nose with anteverted nares, orbital hypertelorism, depressed nasal root, low set ears[synapse.koreamed.org]

  • Coffin-Siris Syndrome 2

    […] individuals reported visual abnormalities, which included: Ptosis 3/20 Strabismus 11/20 Myopia/Astigmatism 8/20 Retinal abnormalities 3/20 Optic nerve abnormalities 2/20 Cataract[epostersonline.com] Clinical features The abnormality of the fifth digit consists in the absence or hypoplasia of the distal phalanx of the fifth digit or toe.[bredagenetics.com] MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high[genecards.org]

  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    , Central Nuclear Cataract, Congenital Cataract, Coppock-like Cataract, Marner Type Cataract, Ocular Anterior Dysgenesis and Coloboma Cataract, Primary Congenital Cataract[sequencing.com] Typical dysmorphic features include short stature, low-set ears, ocular hypertelorism, broad nasal root and forehead, micrognathia, fifth-digit clinodactyly (abnormally bent[sites.google.com] Other features included dolichocephaly, prominent nasal root, oblique palpebral fissures, high-arched palate, low-set ears, and short neck with mild pterygium colli.[bio2rdf.org]

  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

    Two siblings with microcephaly, growth retardation, cataract, hearing loss, and unusual appearance. Clin Dysmorphol 18:181–183.[journals.lww.com] Fifth digit clinodactyly is often present, and less commonly, fusion of the phalanges is observed [ 39 ••].[link.springer.com] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal[rarediseases.info.nih.gov]

  • Hypertelorism and Tetralogy of Fallot

    Anomalies of optic disk, optic nerve, retina, or eye (colobomas, cataracts) 3. Preauricular tags, low-set ears 4. Conductive deafness 5. Mental deficiency (8-20%) a.[fetalultrasound.com] […] fingers with clinodactyly, digital webbing, abnormal hand creases, short toes, long broad medially deviated halluces,hypoplastic scrotum, cryptorchidism, hypospadias, open[chr7.org] Reported dysmorphisms include high forehead, prominent eyes, long eyelashes, hypertelorism, flat nasal root, low-set dysmorphic ears (figure 1A, B, D ).[ojrd.biomedcentral.com]

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