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14 Possible Causes for Beaked Nose, Craniosynostosis, Wide Space Between the First and Second Toe

  • Dubowitz Syndrome

    A "new" clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis.[] nose, abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw.[] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[]

  • Seckel Syndrome

    These reports illustrate that the Chiari I malformation can develop rapidly in the face of increased intracranial pressure, craniosynostosis, and spinal CSF diversion.[] This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent[] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[]

  • Seckel Syndrome Type 2

    […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[] nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Craniosynostosis 0001363 Delayed skeletal maturation Delayed bone maturation Delayed skeletal[] nose, narrow face, and receding lower jaw.[]

  • Genee-Wiedemann Syndrome

    […] microtia, skin tags, significant developmental delay, cleft palate EFTUD2 gene on chromosome 17q21 Baller Gerold syndrome (OMIM# 218600) Abnormally shaped skull, coronal craniosynostosis[] Figure 1: (a) Extraoral view showing frontal bossing, hypertelorism, wide nasal bridge and macrostomia; (b) Profi le view showing cochlear implant and beak-shaped nose; (c[] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[]

  • Kenny-Caffey Syndrome Type 1

    Cranio-osteoarthropathy Craniodiaphyseal dysplasia Cranioectodermal dysplasia Craniofacial conodysplasia Craniometadiaphyseal dysplasia, wormian bone type Craniometaphyseal dysplasia Craniosynostosis-anal[] nose, and micrognathia.Visit the Orphanet disease page for more resources.[] space between the first and second toes.[]

  • Cutis Laxa

    , MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1 Del Dup NGS Craniosynostosis, type 1 TWIST1 Sanger Del Dup NGS Crouzon[] Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose.[] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[]

  • Kleiner Holmes Syndrome

    Learn more Other less relevant matches: Low match CRANIOSYNOSTOSIS 1; CRS1 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial[] ; Beaked nose; Narrow palate; Cleft palate; Congenital heart defect; Intracranial hypertension due to multisutural cranial fusion; Late closing fontanelles; Craniosynostosis[] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] syndrome,” and (c) simple or single craniosynostosis.[] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[] Syndromic craniosynostosis (20 percent) such as Crouzon, Apert, Pfeiffer, Muenke and Saethre-Chotzen syndrome occur due to mutations in the FGFR2, FGFR2, FGFR1 FGFR3, and[]

  • Adactyly of Foot

    MUENKE SYNDROME; MNKES Is also known as muenke nonsyndromic coronal craniosynostosis; Related symptoms: Autosomal dominant inheritance Intellectual disability Seizures Global[] nose, and ear malformations.[] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[]

  • Short Stature - Wormian Bones - Dextrocardia Syndrome

    Craniosynostosis  Primary craniosynostosis: a primary defect of ossification  Secondary craniosynostosis: a failure of brain growth, more commonly  Syndromic craniosynostosis[] nose; Peters anomaly; cranial asymmetry; low-set, simple ears with preauricular dimple; MR; seizures; CL and/or CP; anterior segment dysgenesis (occasional) Duplication 4p[] Wide spacing between first and second toes ( Matthews and Robin, 2011 ). 3. Skin. a. Short neck with excess nuchal skin. C. Associated findings. 1. Prematurity. 2.[]

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