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79 Possible Causes for Dysmorphic Ears, Sacral Dimple

  • Wiedemann-Steiner Syndrome

    dimple, hypertrichosis.[geneticdisordersuk.org] Dysmorphism, including long eyelashes, thick arched eyebrows, downslanting and vertically narrow palpebral fissures, hypertelorism, low set ears, ptosis and mild facial asymmetry[ncbi.nlm.nih.gov] dimple, and short and thick limbs.[bredagenetics.com]

  • Dubowitz Syndrome

    Minor anomalies as clinodactylyl of the firth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen.[ncbi.nlm.nih.gov] The ears are also sometimes prominent, low set, and/or dysplastic and the children are prone to otitis media .[dubowitzsyndrome.net] Skeletal abnormalities in DS include sacral dimple, and clinodactyly (5th fingers), with cutaneous syndactyly of toes or fingers.[orpha.net]

  • Ring Chromosome 18

    dimple, hypotonia, ventriculomegaly, and a ventricular septal defect.[ncbi.nlm.nih.gov] He was presented with palatoschisis, hypertelorism, lower set ears, short neck, hypospadia, feet malformation and heart murmur.[bib.irb.hr] dimple.[en.wikipedia.org]

  • Camptodactyly Syndrome Guadalajara Type 1

    dimple Spinal dimple 0000960 Short distal phalanx of finger Short outermost finger bone 0009882 Synophrys Monobrow Unibrow [ more ] 0000664 Percent of people who have these[rarediseases.info.nih.gov] Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion.[ncbi.nlm.nih.gov] Two sisters, aged 6 and 3 years, presented the same intrauterine growth retardation-malformation syndrome characterized by low birthweight dwarfism and a variety of dysmorphic[omim.org]

  • Trigonocephaly

    dimple, and heart defect.[whonamedit.com] Most of the typical facial dysmorphism can be regarded as part of a trigonocephaly "sequence" rather than presenting characteristic features of a syndrome.[ncbi.nlm.nih.gov] At birth there was a marked trigonocephaly and other dysmorphic craniofacial features: micrognathia, upslanting eyelids, hypotelorism, depressed nasal bridge, low set ears[jmedicalcasereports.biomedcentral.com]

  • Kabuki Syndrome

    While in the NICU, we confirmed an ASD and VSD in her heart, a horseshoe kidney, and a sacral dimple.[globalgenes.org] […] third, everted lower eyelids, blue sclerae, large dysplastic ears, lower lip pits), persistent fetal fingertip pads, short stature, heart defects (interventricular defect[ncbi.nlm.nih.gov] Sacral dimpling was also observed in five patients (41.7%). Most patients (8 out of 12 patients; 66.7%) had a history of recurrent ear infections.[doi.org]

  • Trisomy 9

    dimple.[ncbi.nlm.nih.gov] Dysmorphic features included low-set, posteriorly rotated ears with squared, simple helices, midface hypoplasia, a broad nasal root with wide nasal alae, small mouth, micrognathia[ncbi.nlm.nih.gov] […] features of micrognathia, posteriorly rotated lowset ears, and single palmar crease.[nature.com]

  • Trisomy 4p

    dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism.[ncbi.nlm.nih.gov] (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia[orpha.net] This syndrome is characterized by intellectual disability, delayed speech, facial dysmorphism (prominent nasal bridge, and low-set and malformed ears) and, in certain cases[spandidos-publications.com]

  • Posterior Choanal Atresia

    Axial CT of the nasal bone (angled along the hard palate) shows dysmorphic features, sacral dimple, and chondrodysplasia punctata type.[radiologykey.com] She had widely spaced eyes with depressed nasal bridge, dysmorphic low set right ear, a small pit on the upper right side of the neck, sparse eyebrows, and long eyelashes.[cags.org.ae]

  • Infantile Choroidocerebral Calcification Syndrome

    References: Back to top Intraspinal cystic lesion in lumbo-sacral region -of neonate (filar cyst vs. ventriculus terminalis) This neonate showed a sacral cutaneous dimple.[ultrasound-images.com] […] syndrome 1 Duodenal atresia 8,55 Duplication 8q Dyggve-Melchior-Clausen disease Dyschondrosteosis - nephritis Dyserythropoietic anemia, congenital 1 Dyskeratosis congenita 0,1 Dysmorphism[docplayer.net] Ultrasound images of the lumbo-sacral spine show a cystic lesion of about 1.0 cms. extending from the terminal part of the spinal cord (L-5 downwards).[ultrasound-images.com]

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