stature Skeletal Limbs: elbow dislocation radioulnar synostosis shoulder dislocation absent radius mesomelic arm shortening more Head And Neck Eyes: downslanting palpebral fissures Cardiovascular Heart: sinus arrhythmia Skeletal Hands: hypoplastic to [malacards.org]

stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs - Source OMIM:171480 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI [mousephenotype.org]

short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. [mendelian.co]

Congenital radio-ulnar synostosis Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome Radio-ulnar synostosis in Williams syndrome Mutations [documentslide.com]

There are many physicians who do not have a desk computer or do not History feel at ease in using one. [books.google.com]

Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.de]

Treacher Collins Syndrome NORD Guides for Physicians #12 The National Organization for Rare Disorders The Physician s Guide to Treacher Collins Syndrome For more information about NORD s programs and services, contact: National More information Craniofacial [docplayer.net]

Such specialists may include pediatricians; physicians who diagnose and treat disorders of the ears, nose, and throat (otolaryngologists); eye specialists (ophthalmologists); neurologists; heart (cardiologists) and/or lung (cardiothoracic) surgeons; physicians [rarediseases.org]

STL 2 ASH Telomeric duplication 17q Ichthyosis lamellar 3 THS type 2 Stickler syndrome Stickler syndrome beaded vitreous Asymmetric septal hy per trophy Distal duplication 19q type 3 Lamellar ichthyosis painful Ophthalmoplegia type beaded vitreous type [yumpu.com]

[…] pseudorheumatoid dysplasia, progressive, with hypoplastic toes spondyloepiphyseal dysplasia with precocious osteoarthritis czech dysplasia, metatarsal type Related symptoms: Hearing impairment Scoliosis Sensorineural hearing impairment Cleft palate Pain [mendelian.co]

impairment ; Congenital earlobe sinuses ; Downslanted palpebral fissures ; Elbow dislocation ; Fibular hypoplasia ; Genu varum ; Lateral clavicle hook ; Long clavicles ; Long philtrum ; Malar flattening ; Mesomelic arm shortening ; Microtia ; Midface [mousephenotype.org]

80%) HP:0008551 2 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675 3 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343 4 abnormal nasal morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005105 5 conductive hearing [malacards.org]

In addition, hearing impairment and mild psychomotor delay have also been reported. [mendelian.co]

impairment due to dysgenesis Distal trisomy 19q Ichthyosis male hypogonadism cochleosaccular degeneration Stickler syndrome vitreous type 2 Ichthyosis mental retardation and autosomal dominant nonsyndromic ASP Distal duplication 1p36 asymptomatic spasticity [yumpu.com]

deformity is described in a mother and her daughter. [jmg.bmj.com]

Abstract A syndrome characterised by asymmetrical radial dysplasia, dysmorphic facies, conductive deafness, and external ear deformity is described in a mother and her daughter. [ncbi.nlm.nih.gov]

Harding et al. (1982) described mother and daughter with radial dysplasia, dysmorphic facies, conductive deafness, and external ear deformity. The facial appearance of the mother suggested mild maxillary hypoplasia. [omim.org]

[…] micrognathia 601348 Sporadic Congenital heart disease, micrognathia Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 225280 AR Ectodermal dysplasia, macular dystrophy Facioauriculoradial dysplasia 171480 AD Radial, ulnar hypoplasia, ear [docksci.com]

impairment ; Congenital earlobe sinuses ; Downslanted palpebral fissures ; Elbow dislocation ; Fibular hypoplasia ; Genu varum ; Lateral clavicle hook ; Long clavicles ; Long philtrum ; Malar flattening ; Mesomelic arm shortening ; Microtia ; Midface [mousephenotype.org]

80%) HP:0008551 2 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675 3 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343 4 abnormal nasal morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005105 5 conductive hearing [malacards.org]

In addition, hearing impairment and mild psychomotor delay have also been reported. [mendelian.co]

impairment due to dysgenesis Distal trisomy 19q Ichthyosis male hypogonadism cochleosaccular degeneration Stickler syndrome vitreous type 2 Ichthyosis mental retardation and autosomal dominant nonsyndromic ASP Distal duplication 1p36 asymptomatic spasticity [yumpu.com]

At birth a near normal facies but with bilaterally dysplastic ears, associated with profound shortening of the upper limbs and a unilateral lower limb defects were present. [link.springer.com]

Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease. [books.google.com]

Skeletal dysplasias: group of complex and heterogeneous disorders that affect bone development and growth, resulting in alterations of bone size, shape, density and/or integrity. [obgyn.mhmedical.com]

FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. [mendelian.co]

DISLOCATIONS, GPAPP TYPE Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia [mendelian.co]

AD Cleft lip/palate Rapadilino syndrome 266280 AR Patellar hypoplasia, joint dislocations, infantile diarrhea, short stature Richieri-Costa-Pereira syndrome 268305 AR Robin sequence, cleft mandible, hallux hypoplasia, may have ulnar, tibial, fibular hypoplasia [docksci.com]

humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs - Source OMIM:171480 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC [mousephenotype.org]

humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005792 19 upper limb phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009813 20 asymmetric radial dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006420 21 short 2nd metacarpal [malacards.org]

humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs - Source OMIM:171480 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC [mousephenotype.org]

humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005792 19 upper limb phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009813 20 asymmetric radial dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006420 21 short 2nd metacarpal [malacards.org]

MalaCards integrated aliases for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia: Name: Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 57 Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome 59 [malacards.org]

Preferred Name Stoll Levy Francfort syndrome Synonyms Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia ID altLabel Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia Facioauriculoradial dysplasia cui C1868390 [purl.bioontology.org]

[…] maxillary hypoplasia) and sinus arrhythmia. [monarchinitiative.org]

Name Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia Synonyms FACIOAURICULORADIAL DYSPLASIA Classification bone, developmental, genetic, otorhinolaryngological Phenotypes Absent radius ; Anterior vertebral fusion ; Aplasia/Hypoplasia [mousephenotype.org]

The sinus arrhythmia consisted of variable P-P intervals in the electrocardiogram without relationship to respiration. They found no report of this precise combination. [omim.org]

MalaCards integrated aliases for Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia: Name: Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 57 Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome 59 [malacards.org]

Preferred Name Stoll Levy Francfort syndrome Synonyms Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia ID altLabel Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia Facioauriculoradial dysplasia cui C1868390 [purl.bioontology.org]

[…] maxillary hypoplasia) and sinus arrhythmia. [monarchinitiative.org]

Name Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia Synonyms FACIOAURICULORADIAL DYSPLASIA Classification bone, developmental, genetic, otorhinolaryngological Phenotypes Absent radius ; Anterior vertebral fusion ; Aplasia/Hypoplasia [mousephenotype.org]

The sinus arrhythmia consisted of variable P-P intervals in the electrocardiogram without relationship to respiration. They found no report of this precise combination. [omim.org]