Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Micrognathia, Talipes equinovarus, Low-set ears, Microphthalmia, Arthrogrypos... |
OMIM:616570 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Reduced bone mineral density, Atrophy/Degeneration affecting the brainstem, Agenes... |
OMIM:620200 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal pl... |
ORPHA:93267 |
Pierpont Syndrome |
|
Joint laxity, Small for gestational age, Posteriorly rotated ears, Uplifted earlobe, Abnormal cor... |
ORPHA:487825 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Short stature, Hydrocephalus, Abnormal brainstem morphology, Brachycephaly, Low-set... |
ORPHA:1532 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Posterio... |
OMIM:600325 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal calvaria morphology, Camptodactyly of toe, Agenesis of corpus callosum, Broad hallux pha... |
OMIM:175700 |
Lissencephaly, X-Linked, 1 |
|
Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of cor... |
OMIM:300067 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydr... |
ORPHA:1528 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Hypoplasia of t... |
OMIM:618736 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Severe short stature, Flat occiput, Abnormal thumb morpholo... |
ORPHA:2511 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Hydroceph... |
ORPHA:171839 |
Lissencephaly 3 |
|
Agyria, Periventricular laminar heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem... |
OMIM:611603 |
Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Sensorineural ... |
OMIM:616602 |
Pierpont Syndrome |
|
Decreased body weight, Posteriorly rotated ears, Short stature, Short toe, Brachycephaly, Short f... |
OMIM:602342 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis, Brachycephaly, Thicken... |
ORPHA:178377 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Micrognathia, Hypoplasia of the pons, Periventricular heterotopia, Partial agenesi... |
OMIM:616171 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Increased bone mineral density, Micrognathia, Coxa valga, Wide anterior fontanel... |
ORPHA:163649 |
Maternal Hyperthermia-Induced Birth Defects |
|
Short stature, Joint stiffness, Abnormality of neuronal migration, Clinodactyly of the 5th finger... |
ORPHA:2216 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Micrognathia, Hydrocephalus, Unilambdoid synostosis, Brachycephaly,... |
OMIM:618577 |
Grant Syndrome |
|
Joint dislocation, Frontal bossing, Bowing of the long bones, Short stature, Micrognathia, Large ... |
ORPHA:2097 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... |
OMIM:604213 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach... |
OMIM:201000 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly... |
OMIM:607432 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Micrognathia, Brachycephaly, J... |
ORPHA:1695 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Intrauterine growth retarda... |
OMIM:615411 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Flexion contract... |
ORPHA:272 |
Muenke Syndrome |
|
Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Denta... |
OMIM:602849 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Prominent metopic ridge, Flat occiput, Small for gestational age, Overlapping toe, Postaxial poly... |
OMIM:613792 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Mandibular prognathia, Micrognathia, Pachygyria, Simplified gyral pattern, Abnormality of neurona... |
OMIM:604317 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Short stature, Micrognathia, Macrotia, Perisylvian polymicrogyria, Osteoporosis,... |
OMIM:600118 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Micrognathia, Macrotia, Preaxial polydactyly, Brachycepha... |
OMIM:618142 |
Gombo Syndrome |
|
Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:233270 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Attached earlobe, Camptodact... |
ORPHA:1327 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Mandibular prognathia, Prominent metopic ridge, Frontal bossing, Arachnodactyly, Sh... |
OMIM:619721 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Ulnar deviation of the hand, Posteriorly rotated ears, Congenital diaphragmatic hern... |
OMIM:263210 |
Hao-Fountain Syndrome |
|
Hallux valgus, Trigonocephaly, Large fontanelles, Low-set ears, Clinodactyly of the 5th finger, D... |
OMIM:616863 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Simplified gyral pattern, Knee flexion contracture, Wrist flexion contracture, Disl... |
OMIM:610758 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Brachydactyly, Brachycephaly, Metacarpal synostosis, Midface retrusion, Hearing impairment |
ORPHA:35099 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Micrognathia, Brachycephaly, Conductive hearing impairment, Large iliac wing, Spina... |
ORPHA:2780 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, Brachycephaly, Coxa vara, Hypoplastic inferior il... |
ORPHA:1452 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Short stature, Micromelia, Craniosynostosis, Micrognathia, Split... |
ORPHA:2145 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Small for gestational age, Camptodactyly of fi... |
ORPHA:1617 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, ... |
ORPHA:439822 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Brachycephaly, Growth delay, Microphthalmia, Retrognathia |
ORPHA:2528 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Rocker bottom foot, 4-layered lissencephaly, Abnormality of neuronal migration... |
ORPHA:89844 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Hypoplasia of the maxilla, Postaxial hand polydact... |
OMIM:136760 |
Larsen-Like Syndrome |
|
Joint laxity, Joint dislocation, Frontal bossing, Short stature, Wide anterior fontanel, Conducti... |
OMIM:608545 |
Adenylosuccinate Lyase Deficiency |
|
Prominent metopic ridge, Flat occiput, Brachycephaly, Low-set ears |
ORPHA:46 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the... |
OMIM:109120 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Severe short stature, Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow di... |
OMIM:264180 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Micromelia, Elbow dislocation, Abn... |
ORPHA:2633 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Small for gestational age, Short stature, Micrognathia, Brachycephaly, Umbilical... |
OMIM:615834 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar... |
OMIM:259600 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Wide anterior fon... |
OMIM:207410 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... |
OMIM:613849 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Short stature, Sagittal craniosynostosis, Micrognathia, Hydrocephalus, Scaphocep... |
ORPHA:459061 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flat occiput, Overlapping toe, Down-sloping shoulders, Abnormal pinna morphology, Tapered finger,... |
OMIM:617452 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, Low-set ears... |
OMIM:615433 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Frontal bossing, Sandal gap, Camptodactyly of finger, Co... |
ORPHA:1520 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Abnormally large globe, Multiple joint... |
OMIM:245600 |
Cornelia De Lange Syndrome 2 |
|
Short stature, Proximal placement of thumb, Limited elbow movement, Micrognathia, Postnatal growt... |
OMIM:300590 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Hypoplasia of the primary teeth, Short st... |
OMIM:257850 |
Edinburgh Malformation Syndrome |
|
Frontal bossing, Micrognathia, Joint stiffness, Long fingers, Hydrocephalus, Abnormality of neuro... |
ORPHA:1895 |
Chromosome 16Q22 Deletion Syndrome |
|
Frontal bossing, Prominent metopic ridge, Small for gestational age, Broad hallux, Posteriorly ro... |
OMIM:614541 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Posteriorly rotated ears, Short stature, Craniosynostosis, Wide anterior fontanel, ... |
OMIM:601853 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Hydrocephalus, Simplified gyral pattern, Hypoplasia of the brainstem, Lis... |
OMIM:613153 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Small for gestational age, Posteriorly rotated ears, M... |
OMIM:616897 |
Distal Deletion 10Q |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Brachycephaly, Protruding ear, Clin... |
ORPHA:96148 |
Cebalid Syndrome |
|
Turricephaly, Abnormal pinna morphology, Posteriorly rotated ears, Congenital diaphragmatic herni... |
OMIM:618774 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Frontal bossing, Failure to thrive in infancy, Posteriorly rotated e... |
OMIM:616801 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Short stature, Proximal placement of thumb, Micrognathia, Postnatal growth retard... |
OMIM:300882 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Inguinal hernia, Arachnodacty... |
OMIM:615539 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot... |
OMIM:206920 |
Cofs Syndrome |
|
Prominent metopic ridge, Short stature, Camptodactyly of finger, Micrognathia, Joint stiffness, S... |
ORPHA:1466 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Inguinal hernia, Short stature... |
OMIM:219150 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt... |
OMIM:619339 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Limb joint contracture, Arachnodactyly, ... |
ORPHA:505237 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Micrognathia, Brachycephaly, Advanced eruption of teeth, Distally placed thumb, Agenesis of corpu... |
OMIM:619148 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Short stature, Hydrocephalus, Abnormal location of ears, Brachycephaly, Abnormal... |
OMIM:218350 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Failure to thrive, Periventricular heterotopia |
OMIM:608097 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface... |
ORPHA:93258 |
Pontocerebellar Hypoplasia, Type 3 |
|
Short stature, Hypoplasia of the pons, Atrophy/Degeneration affecting the brainstem, Brachycephal... |
OMIM:608027 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Camptodactyly of finger, Conge... |
ORPHA:1488 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contrac... |
OMIM:218000 |
Baraitser-Winter Syndrome 2 |
|
Abnormal pinna morphology, Short stature, Pachygyria, Lissencephaly, Trigonocephaly, Microphthalm... |
OMIM:614583 |
Recombinant Chromosome 8 Syndrome |
|
Posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Brachycephaly, Growth delay... |
OMIM:179613 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Partial agenesis of the corpus callosum, Subcortical band heterotopia, Hypo... |
OMIM:615771 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Pachygyr... |
OMIM:614643 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Lissencephaly, Microphthalmia, A... |
OMIM:218670 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phalan... |
OMIM:300863 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Abnormal calvaria morphology, Abnormality of the fontanelles or cranial sutures, ... |
ORPHA:2432 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Severe short stature, Dysplastic corpus callosum, Brachycephaly, Microtia, ... |
OMIM:616854 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Tapered finger, Conductive hearing impairment, Sensorineural hearing impai... |
OMIM:618672 |
Baraitser-Winter Syndrome 1 |
|
Short stature, Postnatal growth retardation, Pachygyria, Duplication of phalanx of hallux, Sensor... |
OMIM:243310 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Gray matter heterotopia, Lateral vent... |
OMIM:600348 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Small for gestational age, Short stature, Hypoplasia of the maxilla, Brach... |
ORPHA:93950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Facial palsy, Pachygyria, Achilles tendon contracture, Elbow flexion contracture, ... |
OMIM:608840 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Rocker bottom foot, Micr... |
OMIM:214150 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Skeletal muscle atrophy, Micrognathia, Postnatal growth retardation, Brachycephaly, Low-set ears,... |
OMIM:615419 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Frontal bossing, Inguinal hernia, Congenital hip dislocation, Bowing of the long bone... |
OMIM:612940 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Dysplastic corpus callosum, Flexion contracture, Lissencep... |
OMIM:614833 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Brachycephaly, Low-set ears, Microphthalmia, Coronal craniosynost... |
ORPHA:228390 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Short stature, Micrognathia, Brachycephaly, Growth delay, J... |
ORPHA:251019 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Inguinal hernia, Brachycephaly, Plagiocephaly, Failure to thrive, Agenes... |
OMIM:618603 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Sensorineural hearing impair... |
ORPHA:2377 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu... |
OMIM:101200 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Small for gestational age, Posteriorly rotated ears, Craniosynosto... |
OMIM:613174 |
Desmosterolosis |
|
Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Low-set, posteriorly rotated e... |
ORPHA:35107 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Brachycephaly, Knee flexion contracture, Wrist flexion contracture, Ara... |
OMIM:121050 |
Muenke Syndrome |
|
Tarsal synostosis, Sensorineural hearing impairment, Hydrocephalus, Brachycephaly, Cone-shaped ep... |
ORPHA:53271 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Turricephaly, Parietal foramina, Brachycephaly, Wormian bones, B... |
OMIM:601224 |
Marden-Walker Syndrome |
|
Inguinal hernia, Decreased muscle mass, Arachnodactyly, Micrognathia, Postnatal growth retardatio... |
OMIM:248700 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Short stature, M... |
ORPHA:1387 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Simplified gyral pa... |
OMIM:601390 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, Protruding ear, Neonatal death, L... |
OMIM:259775 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Abnormal dent... |
ORPHA:1798 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Multiple ... |
ORPHA:207 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Flat occiput, Micrognathia, Abnormally large globe, Brachycephaly, Protruding ear, Sh... |
OMIM:249420 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, Finger joint hypermo... |
OMIM:212720 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Craniosynostosis, Split hand, Lobar holoprosenc... |
ORPHA:2117 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Short stature, Coxa valga, Cari... |
OMIM:269300 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia, Failure to thrive, Agenesis of corpus callosum |
OMIM:274270 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Posteriorly rotated ears, Optic nerve hypoplasia, Short stature, Metatarsus adduc... |
OMIM:612513 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... |
OMIM:101800 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Posteriorly rotated ears, Short stature, Wide anterior fontanel, Brachy... |
OMIM:239710 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Micromelia, Joint stiffness, Hearing impairment, Abnormal sacr... |
ORPHA:2655 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Monosomy 18P |
|
Short stature, Micrognathia, Carious teeth, Brachycephaly, Protruding ear, Abnormal antihelix mor... |
ORPHA:1598 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Postnatal growth retardation, Brachycephaly |
OMIM:309545 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor... |
ORPHA:950 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Short stature, Bilateral microphthalmos, Brachycephaly, Plagio... |
ORPHA:369891 |
Cleidocranial Dysplasia, Recessive Form |
|
Severe short stature, Brachycephaly |
OMIM:216330 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Small for gestational age, Short stature, Fif... |
ORPHA:3369 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, Prominent metopic ridge, Posteriorly rotated ears, Dysplastic corpus callo... |
OMIM:620001 |
Adams-Oliver Syndrome 2 |
|
Micrognathia, Hydrocephalus, Protruding ear, Lateral ventricle dilatation, Absent distal phalange... |
OMIM:614219 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con... |
OMIM:617201 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Slender build, Brachycephaly, Short stature |
OMIM:300699 |
Potocki-Shaffer syndrome |
|
Parietal foramina, Delayed cranial suture closure |
DECIPHER:34 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Frontal bossing, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of fin... |
ORPHA:2787 |
Temtamy Syndrome |
|
Brachydactyly, Micrognathia, Short toe, Joint hyperflexibility, Low-set ears, Dolichocephaly, Cli... |
ORPHA:1777 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar... |
OMIM:619135 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Small for gestational age, Rocker bottom foot, Trigonocephaly, Intrauter... |
OMIM:618804 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 ... |
OMIM:618914 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Hydrocephalus, Large earlobe, Polydactyly, Hernia, Microphthalmia, Poly... |
OMIM:602501 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morphology, Gray matter he... |
ORPHA:300573 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Trigonocephaly, Supernume... |
OMIM:604757 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal cho... |
ORPHA:163966 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Frontal bossing, Short stature, Metaphyseal wideni... |
ORPHA:2788 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Conductive hearing impa... |
OMIM:218600 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple pre... |
OMIM:259420 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Sensorineural hearing impairment, Flexion contracture, Hydrocephalus, Hyp... |
OMIM:615249 |
Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Finger clinodactyly, Absent distal interphalangeal creases, Agen... |
ORPHA:1692 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Craniosynostosis, Micrognathia, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, ... |
ORPHA:776 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Flat occiput, Posteriorly rotated ears, A... |
ORPHA:2211 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylation of alpha-dystroglycan, ... |
ORPHA:370959 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Micromelia, Joint stiff... |
ORPHA:1860 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Abnormal ... |
ORPHA:93262 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Anophthalmia, Pos... |
ORPHA:899 |
Clark-Baraitser Syndrome |
|
Sandal gap, Obesity, Brachycephaly, Large earlobe, Low-set ears, Dolichocephaly, Clinodactyly |
OMIM:617752 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly o... |
ORPHA:83 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Micrognathia, Postnatal growth retardation, Flexion contracture, Brachycep... |
OMIM:614222 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Condu... |
OMIM:182212 |
Acalvaria |
|
Omphalocele, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Abnormality of neuronal mig... |
ORPHA:945 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Micrognathia, Knee flexion contracture, Gray matter heterotopia, Camptoda... |
OMIM:619694 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Posteriorly rotated ears, Rocke... |
OMIM:301041 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Broad toe, Frontal bossing, Posteriorly rotated ears, Rocker bottom foot, Sensorine... |
OMIM:612582 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Hypoplasia ... |
OMIM:619512 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Abnormal pinna morphology, Tapered finger, Obesity, Brachycephaly, Large fleshy ears, Clinodactyl... |
ORPHA:352530 |
Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Micrognathia, Large fontanelles, Low-set ears, Mandibular aplasia, Intr... |
ORPHA:1832 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, Prominent metopic ridge, 2-5 finger cutaneous syndactyly, Flat occiput, Up... |
OMIM:617746 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Triphalangeal thumb, Conductive hearing impairment, Cli... |
ORPHA:794 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Brachycephaly, Bilateral sensorineural hearing impairment, Low-set ears |
OMIM:264470 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Cloverleaf skull, Short stature, Micromelia, Hearing impairment, ... |
ORPHA:93274 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Posteriorly rotated ears, Sandal gap, Congenital diaphragmatic hernia, Short stature, Microphthal... |
OMIM:300887 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
Potocki-Shaffer Syndrome |
|
Micrognathia, Parietal foramina, Brachycephaly, Delayed puberty, Decreased skull ossification |
ORPHA:52022 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Broad hallux, Clinodactyly of the 2nd toe, Micrognathia, Coxa valga, Short distal phalanx of the ... |
OMIM:620073 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Short... |
OMIM:200610 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Dolichocephaly, Limitation of joint mobility, Upper limb undergrowth, Short foot, ... |
ORPHA:166277 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Frontal bossing, Persistent open anterior fontanelle, Congenital hip dislocation, Inguinal hernia... |
ORPHA:357058 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f... |
ORPHA:3103 |
Lissencephaly 6 With Microcephaly |
|
Tapered finger, Pachygyria, Periventricular heterotopia, Partial agenesis of the corpus callosum,... |
OMIM:616212 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Abnormal pinna morphology, Micrognathia, Clinodactyly, Split hand, Mic... |
OMIM:157900 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short stature, Short toe, Sensorineural hearing impair... |
OMIM:600430 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn... |
ORPHA:85184 |
Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Short stature, Tapered finger, Premature anterior fontanel closure, ... |
OMIM:619435 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Posteriorly rotated ears, Short stature, Micrognathia, Coxa valga, Periventricular heterotopia, H... |
OMIM:619833 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Hydrocephalus, Flexion contracture, Macroglossia, Hypoplasia of the brainstem, Calf... |
OMIM:613155 |
Joubert Syndrome 37 |
|
Frontal bossing, Prominent metopic ridge, Posteriorly rotated ears, Short stature, Postaxial poly... |
OMIM:619185 |
Al Kaissi Syndrome |
|
Torticollis, Posteriorly rotated ears, Abnormal pinna morphology, Short stature, Postnatal growth... |
OMIM:617694 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Frontal bossing, Small for gestational age, Iliac crest serration, Micromelia, Short stature, Wid... |
OMIM:613320 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Frontal bossing, Short stature, Recurrent fr... |
OMIM:616294 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl... |
OMIM:615546 |
Lissencephaly 8 |
|
Occipital encephalocele, Skeletal muscle atrophy, Hypoplasia of the brainstem, Talipes equinovaru... |
OMIM:617255 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Gray matter heterotopia, Microph... |
OMIM:164180 |
Temtamy Syndrome |
|
Frontal bossing, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equin... |
OMIM:218340 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Broad hallux, Overlapping toe, Proximal placement... |
ORPHA:435638 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Short stature, Micrognathia, Brachycephaly, Spina bifida occulta |
ORPHA:1514 |
Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... |
OMIM:123500 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Malar prominence, Micrognathia, Ost... |
ORPHA:48431 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short stature, Large for gestation... |
ORPHA:2563 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Lateral ventricle dilatation, Talipes equinovarus |
OMIM:619972 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Biemond Syndrome Type 2 |
|
Short stature, Hydrocephalus, Preaxial polydactyly, Obesity, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... |
ORPHA:101030 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Metaphyseal widening, Brachycephaly, Parietal bossing, Spina bifida, Supernumerary ... |
OMIM:234100 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, 2-3 toe syndactyly, Brachycephaly, Growth del... |
ORPHA:3306 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce... |
OMIM:619795 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Muscular dystrophy, Type II lissencephaly |
OMIM:614830 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sandal gap, Postaxial polydactyly, Micrognathia, Brachycephaly, Low-set ears, Broad distal phalan... |
OMIM:615761 |
Coffin-Siris Syndrome 6 |
|
Frontal bossing, Posteriorly rotated ears, Short stature, Micrognathia, Conductive hearing impair... |
OMIM:617808 |
Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Small abnormally formed scapulae, Hy... |
OMIM:187600 |
Ring Chromosome 10 Syndrome |
|
Frontal bossing, Sandal gap, Cachexia, Tapered finger, Micrognathia, Abnormal antihelix morpholog... |
ORPHA:1438 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Short stature, Wide anterior fontanel, Sensorineural hearing i... |
ORPHA:44 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Flexion contracture, Hypoplasia of the brainstem, Agenesis of co... |
OMIM:605039 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Multiple joint contractures, Abnormal occipital bone morphology, Hypoplasi... |
ORPHA:468631 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Brachycephaly, Tibial bowing, Short palm, Abnormal bone... |
ORPHA:175 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Muscu... |
OMIM:615181 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Posteriorly rotated ears, Left ventricular hypertrophy... |
OMIM:300280 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Asymmetry of the ears, Postnatal growth retardation, Flexion contracture, Brachy... |
OMIM:614225 |
Autosomal Recessive Primary Microcephaly |
|
Short stature, Pachygyria, Growth delay, Gray matter heterotopia, Abnormal cortical bone morpholo... |
ORPHA:2512 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... |
OMIM:614856 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Short ... |
ORPHA:2050 |
De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Brachyce... |
ORPHA:2962 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Short stature, Abnormal limb bone morphology, Abnormality of neur... |
ORPHA:2204 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short stature, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Holoprosencephaly, Cli... |
ORPHA:2163 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Micromelia, Micrognathia, Flexion contracture, Pterygium, Pa... |
ORPHA:2671 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Inguinal hernia, Posteriorly rotated ears, Congenital diaphragmatic hern... |
ORPHA:2063 |
German Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Brachycephaly... |
ORPHA:2077 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Sandal gap, Posteriorly rotated ears, Overweight, Carious teeth, Small... |
OMIM:619229 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Short stature, Craniosynostosis, Brachycephaly, Low-set ears, Macrotia |
ORPHA:314575 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Overlapping toe, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Cuta... |
OMIM:617822 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Protruding ear, Growth delay, ... |
ORPHA:85284 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Short stature, Micrognathia, Hydrocephalus, Brachycephaly, Overfolded ... |
OMIM:609757 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Brachycephaly, Femoral bowing, Conductive hearing impairment, Abnormality of... |
ORPHA:95699 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph... |
OMIM:156400 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog... |
ORPHA:96264 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Arachnodactyly, Carious teeth, Hydrocep... |
ORPHA:377 |
Menkes Disease |
|
Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Brachycephaly... |
OMIM:309400 |
Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Brachycephaly, Knee flexion contracture, Generalized amyotrophy, Sho... |
OMIM:613776 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Skeletal muscle atrophy, Tapered finger, Osteolysis, Foot acroosteolysis... |
ORPHA:970 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Short stature, Micrognathia, Flexion contracture, Calcaneovalgus deformity, Adduc... |
ORPHA:562528 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, External ear malformation, Con... |
ORPHA:254346 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Large posterior fontanelle, Natal tooth, Frontal bossing, Abnormal pinna morphology, Postaxial po... |
OMIM:617925 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Tibial bowing, Short pal... |
OMIM:601812 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Short stature, Hearing impairment, Increased body weight, Brachycephaly, S... |
OMIM:182290 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Micrognathia, Partial agenesis of the corpus callosum, Prominent fin... |
OMIM:305450 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Posteriorly rotated ears, Anophthalmia, S... |
ORPHA:264200 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Partial duplication of the distal phalanx of the 3rd fi... |
OMIM:101400 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Genu recurvatum, Short stature, Malar flattening, Uplifted e... |
ORPHA:364028 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Sandal gap, Posteriorly rotated ears, Tapered finger, Obesity, Brachycephaly, Pl... |
OMIM:618430 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Brachycephaly,... |
OMIM:610968 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Inguinal hernia, Brachycephaly, Growth delay, Lateral ventricle dilatation |
ORPHA:85290 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Hypoplasia of the brainstem, Dys... |
ORPHA:352682 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Prominent metopic ridge, Posteriorly rotated ears, Camptodactyly of finger, Wid... |
OMIM:616920 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Frontal bossing, Camptodac... |
ORPHA:261318 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Stapes ankylosis, Short stature, 2-3 toe syndactyly, Coxa vara, Brachycephaly, Lobar ... |
OMIM:614701 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Frontal bossing, Toe syndactyly, Failure to thrive in infancy, Short statu... |
ORPHA:819 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra... |
ORPHA:666 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Posteriorly rotated ears, Broad proximal phalanges of the hand, Optic nerve hypo... |
OMIM:607597 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
White-Sutton Syndrome |
|
Joint laxity, Mandibular prognathia, Posteriorly rotated ears, Optic nerve hypoplasia, Congenital... |
OMIM:616364 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Micrognathia, Flexion contracture, Brachycephaly, Muscle fiber atrophy, Failure to thrive |
OMIM:620240 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Short stature, Uplifted earlobe, Large for gestational age, Tapered... |
ORPHA:261652 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear... |
OMIM:311300 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Abnormality of neuronal migra... |
ORPHA:2772 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... |
ORPHA:1553 |
Stevenson-Carey Syndrome |
|
Posteriorly rotated ears, Brachycephaly, Hip dysplasia, Low-set ears, Camptodactyly, Microphthalm... |
OMIM:611961 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangi... |
ORPHA:2547 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Hy... |
OMIM:615191 |
Mmep Syndrome |
|
Mandibular prognathia, Microphthalmia, Split foot, Triphalangeal thumb |
ORPHA:3434 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Flat occiput, Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Femoral bowin... |
ORPHA:289157 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Brachycephaly, Clinodactyly of the 5th finger, Prominent metopic... |
ORPHA:1272 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Foot joint contracture, Ulnar deviation of the 3rd finger, Proximal p... |
ORPHA:456312 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi... |
OMIM:615297 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Sandal gap, Camptodactyly of finger, Optic nerve hypopl... |
ORPHA:261349 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Micrognathia, Hydrocephalus, Brachycephaly, Prominent occiput, Low-set ears, Intraute... |
OMIM:220210 |
Vitamin D-Dependent Rickets, Type 2A |
|
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,... |
OMIM:277440 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Frontal bossing, Sandal gap, Short stature, Micrognathia, Postnatal growth... |
OMIM:156200 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Coronal craniosyno... |
OMIM:614188 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Posteriorly rotated ears, Multiple prenatal fractures, Brachycephaly, Plag... |
OMIM:618644 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Bowing of the long bones, Shor... |
ORPHA:2484 |
Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydac... |
OMIM:601707 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... |
ORPHA:96263 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Frontal bossing, Abnormal dental enamel morphology, Tarsal synostosis... |
ORPHA:85199 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, P... |
OMIM:605627 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Short stature, Brachycephaly, Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, ... |
OMIM:619995 |
Galloway-Mowat Syndrome |
|
Short stature, Camptodactyly of finger, Hiatus hernia, Micrognathia, Aqueductal stenosis, Pachygy... |
ORPHA:2065 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Microphthalmia, Congenital muscular dystrophy, Type II li... |
ORPHA:324416 |
Fetal Trimethadione Syndrome |
|
Micrognathia, Brachycephaly, Abnormal helix morphology, Low-set ears, Intrauterine growth retarda... |
ORPHA:1913 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Joint laxity, Mandibular prognathia, Frontal bossing, 2-3 toe cutaneous syndactyly, Brachycephaly... |
OMIM:615828 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Abnormality of neuronal migration |
ORPHA:1980 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Mandibular prognathia, Posteriorly rotated ears, Short stature, Proximal placement of... |
OMIM:212066 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short stature, Metaphyseal widening, Flexion contracture, Coxa vara, Fla... |
OMIM:300232 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Small for gestational age, Posteriorly rotated ears, Short stature, Micrognathia, Postnatal growt... |
OMIM:257300 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Optic nerve hypoplasia, Parietal fo... |
OMIM:603671 |
Desanto-Shinawi Syndrome |
|
Abnormal pinna morphology, Posteriorly rotated ears, Sensorineural hearing impairment, Brachyceph... |
OMIM:616708 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac... |
OMIM:610967 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Failure to thrive in ... |
ORPHA:1225 |
Warburg Micro Syndrome 4 |
|
Decreased muscle mass, Short stature, Flexion contracture, Perisylvian polymicrogyria, Brachyceph... |
OMIM:615663 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla... |
OMIM:620099 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Failure to thrive, Short stature, Brachycephaly |
OMIM:309541 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Prominent metopic ridge, Inguinal hernia, Trigonocephaly, Brac... |
ORPHA:363659 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Frontal bossing, Wide cranial sutures, Inguinal hernia, Short femur, Recurrent fractu... |
OMIM:618188 |
Craniofrontonasal Syndrome |
|
Joint laxity, Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital d... |
OMIM:304110 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the abdominal wall musculature, Brachycephaly,... |
OMIM:612289 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Narrow greater sciatic notch, Molar tooth sign on MRI, Short tibia, Unicoro... |
OMIM:616300 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Short stature, Brachycephaly, Hypomimic face |
ORPHA:320385 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Failure to thrive ... |
ORPHA:356961 |
Symmetrical Thalamic Calcifications |
|
Failure to thrive, Abnormality of neuronal migration |
ORPHA:1314 |
2Q23.1 Microdeletion Syndrome |
|
Sandal gap, Short stature, Brachycephaly, Growth delay, Hip dysplasia, Short palm, Clinodactyly o... |
ORPHA:228402 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Omphalocele, Sclerotic cranial sutures, Abnormal hand morphology, Osteol... |
ORPHA:371428 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Neonatal death, Microphthalmia, Retr... |
OMIM:615524 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Micrognathia, Postaxial hand polydac... |
ORPHA:2189 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ... |
ORPHA:2249 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Frontal bossing, Enlargement of the ankles, Bulging epiphyses, Flat occiput, Recurrent fractures,... |
OMIM:600081 |
Trisomy 13 |
|
Anophthalmia, Postaxial hand polydactyly, Sensorineural hearing impairment, Abnormality of the fo... |
ORPHA:3378 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Frontal bossing, Small for gestational age, Elbow contracture, Short stature, Postnat... |
OMIM:616489 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Sensorineural hearing impairment, ... |
OMIM:603116 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Short stature, Brachycephaly, Malar flattening, Spina bifida occulta, Abno... |
OMIM:268850 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Frontal bossing, Increased bone mineral density, Posteriorly rotated ears, Short stature, Microgn... |
OMIM:617306 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Short stature, Microphthalmia, Clinodactyly, Hearing impairment |
OMIM:610023 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Micrognathia, Ulnar deviation of the hand or of fingers of the hand, Wide anterior ... |
OMIM:214100 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ... |
ORPHA:93324 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Brachycephaly, Hypomimic face |
OMIM:615031 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Fused... |
OMIM:609053 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Brachycephaly, Low-set ears, Microphthalmia, Polymicrogyria |
OMIM:612379 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Macroglossia, Talipes equinovarus, Low-set ears, C... |
OMIM:616789 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Growth dela... |
OMIM:610756 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia, Thickened helices, Brachycephaly, Simplified gyral pattern, Clinodactyly ... |
OMIM:618828 |
Hamamy Syndrome |
|
Osteopenia, Syndactyly, Inguinal hernia, Long toe, Recurrent fractures, Craniosynostosis, Microgn... |
OMIM:611174 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, Abnormality of the ta... |
ORPHA:261112 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped e... |
ORPHA:2399 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Flat occiput, Micrognathia, Partial agenesis of the corpus callosum, Simplified gyral pattern, Co... |
ORPHA:300570 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Frontal bossing, Rocker bottom foot, Proximal placement of thumb, Brachycephal... |
OMIM:619762 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Omphalocele, Congenital hip dislocation, In... |
OMIM:614450 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Frontal bossing, Communicating hydrocephalus, Short stature, Recurrent fractures, Mic... |
OMIM:112240 |
Hemimegalencephaly |
|
Cranial asymmetry, Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology |
ORPHA:99802 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Decreased muscle mass, Failure to thrive in... |
OMIM:615582 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Agyria, Hydrocephalus, Flexion contracture, Calf muscle h... |
OMIM:253800 |
3C Syndrome |
|
Finger syndactyly, Inguinal hernia, Frontal bossing, Short stature, Micrognathia, Postnatal growt... |
ORPHA:7 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Facial hypotonia, 2-3 toe cutaneous syndactyly, Brachycephaly, Short foot, Low-set ears, Decrease... |
OMIM:300260 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Frontal bossing, Toe syndactyly, Posteriorly rotated ears, Short stature, Delayed closure of the ... |
OMIM:610759 |
Xq28 (MECP2) duplication |
|
Malar flattening, Macrotia, Failure to thrive, Brachycephaly |
DECIPHER:45 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Microretrognathia, Joint dislocation, Frontal bossing, Short stature, Monkey wrench... |
OMIM:618870 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Short stature, Camptodactyly of finger, Micrognathia, Low-set ears, Wo... |
ORPHA:2863 |
Acrofrontofacionasal Dysostosis |
|
Short stature, Camptodactyly of finger, Micromelia, Brachycephaly, Abnormal epiphysis morphology,... |
ORPHA:1784 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla... |
ORPHA:2673 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Micrognathia, Abnormal occipital bone morphology, Ab... |
ORPHA:3472 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Delayed e... |
ORPHA:2409 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h... |
ORPHA:2658 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Facial hypotonia, Hearing impairment, Tapered finger, Micrognathia, ... |
OMIM:618659 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Hearing impairment, Persistence of... |
OMIM:610253 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Pachygyria, Dysplastic corpus callosum, Atresia of the external auditor... |
ORPHA:2328 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodacty... |
OMIM:274000 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,... |
OMIM:264700 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Small for gestational... |
OMIM:616229 |
Seckel Syndrome 1 |
|
Abnormal finger flexion crease, Micrognathia, Abnormally large globe, Clinodactyly of the 5th fin... |
OMIM:210600 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Frontal bossing, Abnormally ossified vertebrae, Abnormal pinna morphology, Short stature, Scarrin... |
ORPHA:35173 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Short stature, Frontal bossing, Sensorineu... |
ORPHA:250989 |
6Q Terminal Deletion Syndrome |
|
Joint laxity, Hallux valgus, Prominent metopic ridge, Low-set, posteriorly rotated ears, Microgna... |
ORPHA:75857 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Dislocated radial he... |
ORPHA:2839 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Simplified gyral pattern, Low-set, ... |
ORPHA:96121 |
Congenital Disorder Of Deglycosylation 2 |
|
Ulnar deviation of the hand, Genu recurvatum, Sandal gap, Micrognathia, Partial agenesis of the c... |
OMIM:619775 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Anophthalmia, Abnormal finger morphology, Phocomelia, Agenesis o... |
ORPHA:2538 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Prominent metopic ridge, Short stature, Brachycephaly, Plagiocephaly |
OMIM:618862 |
Alg9-Cdg |
|
Micrognathia, Brachycephaly, Large fleshy ears, Narrow greater sciatic notch, Abnormal bone ossif... |
ORPHA:79328 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Brainstem dysplasia, Dolichocephaly, Postaxial hand polydactyly, ... |
OMIM:608091 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Short stature, Joint stiffness, Abnormality of cartilage of external ear, Brac... |
ORPHA:324313 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Micrognathia, Meningoencephalocele, Hydr... |
OMIM:236670 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Short stature, Abnormality of joint mobility, Abnormal midbrain morphology, Supern... |
ORPHA:314621 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Brachycephaly, Prominent interphalangeal joints, Conductive hearing impair... |
OMIM:618371 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o... |
OMIM:119600 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Increased body mass index, Small for gestational age, Short stature, Sensorineural ... |
OMIM:300957 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Midline central nervous system lipomas, Meningocele, Large fontanelles, Brachyceph... |
ORPHA:1827 |
Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Hearing impairment, Hydrocephalus, Microphthalmia, Intrauterine gro... |
ORPHA:858 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Hip dislocation, Brachycephaly, Low-set ears, Failure to thrive |
OMIM:608776 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Micrognathia, Plagiocephaly, Slender long bone, Decreased calvar... |
OMIM:618265 |
Galloway-Mowat Syndrome 3 |
|
Frontal bossing, Arachnodactyly, Short stature, Hiatus hernia, Micrognathia, Pachygyria, Hip disl... |
OMIM:617729 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
Tetrasomy 5P |
|
Pericallosal lipoma, Overlapping toe, Posteriorly rotated ears, Short hallux, Micrognathia, Postn... |
ORPHA:3309 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Thickened helices, Limitation of... |
ORPHA:261494 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Hypoplasia of the maxilla, Cupped ear, Low-set ears, Dolichocephaly, Clinodac... |
OMIM:167730 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Frontal bossing, Micrognathia, Spina bifida occulta, Brachycephaly, Protr... |
ORPHA:52 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Overweight, Hydrocephalus, Flexion contracture, Small hand, Brachycephaly, Short f... |
ORPHA:500055 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Conductive hearing impairment, Molar tooth sign on MRI, Agenesis of ... |
OMIM:277170 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Broad hallux, Periventricular heterotopia, Lateral ventricle dilatation, Microph... |
OMIM:614105 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Short stature, Micrognathia, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:314679 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Flat occiput, Femoral hernia, Obesity, Brachycephaly, Growth delay, Macroglossia... |
ORPHA:96147 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Hypoplasia of the brainstem, Abnormal calvaria morphology, Decreased... |
ORPHA:255138 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Micrognathia, 2-3 toe syndactyly, Brachycephaly, Postaxial foot polydactyl... |
ORPHA:404440 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Partial agenesis of the corpus callosum, Brachycephaly, Obesity, Plagiocephaly, ... |
OMIM:617296 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Short stature, Micrognathia, Obesity, Microph... |
ORPHA:3191 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Hypoplasia of the maxilla, Brachycephaly, Abnormal metacarpal morphology, Conducti... |
ORPHA:2095 |
Chopra-Amiel-Gordon Syndrome |
|
Short stature, Postnatal growth retardation, Brachycephaly, Midface retrusion, Joint hypermobility |
OMIM:619504 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Short stature, ... |
ORPHA:401973 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Calcinosis, Hypoplasia of teeth, Short clavicles, ... |
OMIM:248370 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Platybasia, Decreased calvarial ossification, Stillbirth, Disproport... |
OMIM:259410 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia, Small for gestational age |
OMIM:278780 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Abnormality of the fontanelles or cranial sutures, Pointed helix... |
ORPHA:3380 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepip... |
ORPHA:192 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Postaxial hand polydactyly, Brachycephaly, Abnor... |
ORPHA:66625 |
Marshall-Smith Syndrome |
|
Large sternal ossification centers, Distal widening of metacarpals, Coxa vara, Prominent fingerti... |
OMIM:602535 |
8Q12 Microduplication Syndrome |
|
Short foot, Sensorineural hearing impairment, Brachycephaly |
ORPHA:228399 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Li... |
OMIM:601356 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Large for gestational age, Osteoporosis, Brachycephaly, Ankle... |
OMIM:615398 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica... |
OMIM:259440 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Inguinal hernia, Short stature, Brachycephaly, Symphalangism affecting the phala... |
ORPHA:1292 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Inguinal hernia, Wormian bones, Short metacarpal, Recurrent fractures, ... |
OMIM:610915 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Brachycephaly, Generalized amyotrophy, Small earlobe, Parietal... |
OMIM:264090 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Short stature, Metatarsus adductus, Conductive hearing imp... |
OMIM:611962 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Mandibular prognathia, Communicating hydrocephalus, Brachycephaly, Cortical thickenin... |
ORPHA:309282 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Simplified gyral pattern, Brachycephaly, Lateral ventricle dilatation, Low-set ears, Agenesis of ... |
OMIM:619244 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Frontal bossing, Short stat... |
ORPHA:2754 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Short palm, Clinodactyly of the 5th finger, Finger synda... |
ORPHA:251014 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Obesity, Postaxial polydactyly |
OMIM:615985 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Parietal bossing, Abnor... |
OMIM:224300 |
Pycnodysostosis |
|
Frontal bossing, Increased bone mineral density, Persistent open anterior fontanelle, Short statu... |
OMIM:265800 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Bilateral microphthalmos, Lateral ventricle dilatation, Atrophy/Degener... |
ORPHA:77299 |
Carpenter Syndrome 2 |
|
Preaxial polydactyly, Brachycephaly, Coxa vara, Knee flexion contracture, Protruding ear, Cutaneo... |
OMIM:614976 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Brachycephaly, Frontal bossing, 2-3 toe cutaneous syndactyly, Broad thumb |
OMIM:617364 |
Beck-Fahrner Syndrome |
|
Lacrimal duct stenosis, Facial hypotonia, Brachycephaly, Protruding ear, Hip dysplasia, Joint hyp... |
OMIM:618798 |
Galloway-Mowat Syndrome 1 |
|
Midface retrusion, Flat occiput, Small for gestational age, Short stature, Micrognathia, Hiatus h... |
OMIM:251300 |
Lessel-Kreienkamp Syndrome |
|
Frontal bossing, Wide cranial sutures, Scaphocephaly, Dental malocclusion, Plagiocephaly, Clinoda... |
OMIM:619149 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Increased variability in muscle fiber diameter, Buphthalmos, Skelet... |
OMIM:613150 |
Distal Deletion 12Q |
|
Micrognathia, Brachycephaly, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodac... |
ORPHA:96149 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Frontal bossing, Posteriorly rotated ears, Sensorineural hearing imp... |
OMIM:615219 |
Cat-Eye Syndrome |
|
Short stature, Hearing impairment, Hip dysplasia, Microphthalmia, Intrauterine growth retardation |
ORPHA:195 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Frontal bossing, Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Postnatal growth ... |
OMIM:241410 |
Joubert Syndrome 14 |
|
Encephalocele, Posteriorly rotated ears, Postaxial polydactyly, Hydrocephalus, Meningocele, Growt... |
OMIM:614424 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... |
OMIM:166210 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Postnatal growth r... |
OMIM:302960 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Molar tooth sign on M... |
OMIM:615665 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... |
OMIM:268310 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
Mohr Syndrome |
|
Short palm, Syndactyly, Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand pol... |
OMIM:252100 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Sandal gap, Short stature, Congenital diaphragmatic hernia, 3-4 finger cutaneous... |
OMIM:612530 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 3rd finger, Short stature, Proximal placement of thumb, Postnatal growth r... |
OMIM:616263 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Wide ant... |
OMIM:614886 |
Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Short stature, Flexion contracture, Elbow flexion contracture, Knee ... |
OMIM:609220 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Decreased muscle mass, Posteriorly rotated ears, Short stature... |
OMIM:130720 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Short stature, Thickened helices, Proportionate short stature, Joint stiffness,... |
OMIM:608328 |
Marshall Syndrome |
|
Frontal bossing, Short stature, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Hypoplas... |
ORPHA:560 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Craniosynostosis, Parietal foramina, Calvarial skull defect, Brachycephaly, Low-se... |
OMIM:613451 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Posteriorly rotated ears, Brachycephaly, Low-set ears |
OMIM:613456 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Congenital Varicella Syndrome |
|
Atypical scarring of skin, Microphthalmia, Micromelia, Intrauterine growth retardation |
ORPHA:291 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteosclerosis, Osteopathia s... |
OMIM:300373 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short... |
OMIM:611717 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Finger syndactyly, Arach... |
ORPHA:193 |
Man1B1-Cdg |
|
Frontal bossing, Flat occiput, Periventricular heterotopia, 2-3 toe syndactyly, Truncal obesity, ... |
ORPHA:397941 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Frontal bossing, Posteriorly rotated ear... |
OMIM:247200 |
Down Syndrome |
|
Joint laxity, Sandal gap, Conductive hearing impairment, Obesity, Abnormality of the fontanelles ... |
ORPHA:870 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Short stature, Facial hypotonia, Osteoporosis, Disproportionate s... |
ORPHA:85194 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Abnormal corti... |
OMIM:610829 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Short stature, Hearing impairment, Tapered finge... |
OMIM:601088 |
Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Large fontanelles, Brachycephaly, Cut... |
OMIM:606851 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Micrognathia,... |
OMIM:608612 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Abnormal p... |
OMIM:309583 |
Frontofacionasal Dysplasia |
|
Encephalocele, Short stature, Brachycephaly, Limbal dermoid, Microphthalmia, Midface retrusion |
ORPHA:1791 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Rieger anomaly, Tapered finger, Long fingers, Cal... |
ORPHA:521445 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Tali... |
ORPHA:2771 |
Congenital Rubella Syndrome |
|
Short stature, Sensorineural hearing impairment, Abnormality of the fontanelles or cranial suture... |
ORPHA:290 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Posteriorly rotated ears, Short stature, Postaxial polydactyly, Tapered finger, Abn... |
OMIM:300968 |
Gracile Bone Dysplasia |
|
Short stature, Hydrocephalus, Flared metaphysis, Decreased skull ossification, Slender long bone,... |
OMIM:602361 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Brachycephaly |
OMIM:618859 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, ... |
OMIM:227330 |
Radio-Tartaglia Syndrome |
|
Frontal bossing, Hearing impairment, Tapered finger, Micrognathia, Obesity, Large earlobe, Gray m... |
OMIM:619312 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Large fontanelles, Obesity, Aniridia, Biparietal na... |
ORPHA:251038 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Dental malocclusion, Obesity, Brac... |
OMIM:157980 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Low-set e... |
OMIM:613885 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93260 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, ... |
OMIM:611134 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Brachycephaly |
ORPHA:70472 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Sandal gap, Micromelia, Short stature, Postnatal growth retardation, Br... |
OMIM:614800 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Tapered finger, Brachycephaly, L... |
ORPHA:1236 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Decreased muscle mass, Failure to thrive in infancy, Sandal ga... |
ORPHA:813 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th... |
ORPHA:306542 |
3-Hydroxyisobutyric Aciduria |
|
Failure to thrive, Abnormality of neuronal migration |
OMIM:236795 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Pachygyria, Short stature, Simplified gyral pattern |
OMIM:251270 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
16P13.11 Microdeletion Syndrome |
|
Short stature, Camptodactyly of finger, Sensorineural hearing impairment, Abnormality of neuronal... |
ORPHA:261236 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Brachycephaly, Conductive hearing impairment, Thickened helices, Clinodactyly of the 5th finger, ... |
OMIM:607872 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Protruding ear, Talipes ... |
OMIM:616603 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Flat occiput, Arachnodactyly, Micrognathia, Retrognathia, Brachycephaly, Growth delay, Failure to... |
ORPHA:2707 |
Seckel Syndrome 2 |
|
Small for gestational age, Short stature, Micrognathia, Growth delay, Clinodactyly of the 5th fin... |
OMIM:606744 |
Trisomy 9P |
|
Brachycephaly, Protruding ear, Impacted tooth, Clinodactyly of the 5th finger, Macrotia, Brachyda... |
ORPHA:236 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Vertebral fusion, Short... |
OMIM:139210 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion... |
OMIM:268300 |
Holoprosencephaly 7 |
|
Omphalocele, Frontal bossing, Flat occiput, Occipital meningocele, Hypoplasia of the premaxilla, ... |
OMIM:610828 |
Adnp Syndrome |
|
Joint laxity, Inguinal hernia, Broad hallux, Sandal gap, Short stature, Trigonocephaly, Abnormal ... |
ORPHA:404448 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Frontal bossing, Small for gestational age, Micrognathia, Short distal phalanx of the... |
OMIM:180860 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing... |
OMIM:223800 |
Treacher-Collins Syndrome |
|
Encephalocele, Frontal bossing, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of th... |
ORPHA:861 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Small for gestational age, Overlapping toe, Craniosynostosis, Micrognath... |
OMIM:309590 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Large for gestational age, Micrognathia, Hypoplasia of the maxilla, Flexio... |
ORPHA:96334 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Protruding ear, Clin... |
ORPHA:235 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Hearing ... |
OMIM:618150 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Micrognathia, Cupped ear, Brachycephaly, Shortening of all distal phalange... |
ORPHA:247262 |
19P13.13 Microdeletion Syndrome |
|
Sandal gap, Optic nerve hypoplasia, Long fingers, Brachycephaly, Macroglossia, Low-set ears, Doli... |
ORPHA:357001 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Inguinal hernia, Overlapping toe, Post... |
OMIM:213980 |
Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Abnormality of neuronal migratio... |
ORPHA:2318 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Joint laxity, Frontal bossing, 2-3 toe syndactyly, Protruding ear, Joint contracture of the 5th f... |
OMIM:620098 |
Six2-Related Frontonasal Dysplasia |
|
Frontal bossing, Absent/hypoplastic paranasal sinuses, Small for gestational age, Posteriorly rot... |
ORPHA:488437 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Posteriorly rotated ears, Hip dysplasia, Low-set ears, Prominent fingertip pads,... |
OMIM:618494 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Sandal gap, Posteriorly rotated ears, Short stature, Small hand, Brachycephaly, Short foot, Low-s... |
OMIM:618885 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Brachycephaly, Plagiocephaly, Low-set ears, Toe clinodactyly, Clinodactyly of the... |
OMIM:619910 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Encephalocele, Posteriorly rotated ears, Postaxial hand polydactyly, Hydrocephalus, ... |
OMIM:264480 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Posteriorly rotated ears, Rocker bottom foot, Hearing impairment, Tapered finger, Brachycephaly, ... |
OMIM:601353 |
Microphthalmia, Syndromic 13 |
|
Anteverted ears, Microphthalmia, Short stature |
OMIM:300915 |
Cockayne Syndrome B |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Squa... |
OMIM:133540 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Postnatal growth retardation, H... |
ORPHA:494344 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Micrognathia, Long fingers, Brachycephaly, Low-set ears, Microphthalmia... |
OMIM:156610 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Micrognathia, Micromelia, Proximal placement of thumb, Brachycep... |
OMIM:122470 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly, Hearing impairment, Decreased body weight |
OMIM:300958 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Finger syndactyly, Inguinal hernia, Overlapping toe, Microphthalmia, Devia... |
ORPHA:464738 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Absent pubertal growth spurt, Metaphyseal widening, Brachyce... |
OMIM:250250 |
White-Sutton Syndrome |
|
Joint laxity, Ventral hernia, Inguinal hernia, Posteriorly rotated ears, Short stature, Congenita... |
ORPHA:468678 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd... |
OMIM:619879 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Lipoatrophy, Short stature, Limited elbow movement, Join... |
OMIM:614008 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Low-set,... |
ORPHA:800 |
Jacobsen Syndrome |
|
Flat occiput, Trigonocephaly, Micrognathia, Hydrocephalus, Flexion contracture, Nasolacrimal duct... |
OMIM:147791 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Partial agenesis of the corpus call... |
ORPHA:50 |
Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Microphthalmia, Clinodactyly, Retrognathia, Hearing impai... |
OMIM:619981 |
Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Inguinal hernia, Overlapping toe, Micrognathia, Anteverted ears, Microphthalmia,... |
OMIM:613884 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia, Growth delay |
OMIM:614082 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Hernia, Decreased skull ossification, Partial a... |
ORPHA:955 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Congenital diaphragmatic hernia, Micrognathia, ... |
ORPHA:1915 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia, Finger syndactyly, Abnormal dent... |
ORPHA:2092 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Anotia, Microtia, Foot polydactyly,... |
ORPHA:268249 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Microtia, third degree, Femoral hernia, Anophthalmia, Spina bifida, Micrognathia... |
ORPHA:3412 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... |
ORPHA:85167 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Femur fracture, Short stature, Delayed eruption of primary t... |
OMIM:619322 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Tapered toe, Posteriorly rotated ears, Tapered finger, Long fingers, Elbow flexion cont... |
OMIM:608836 |
Trichohepatoneurodevelopmental Syndrome |
|
Joint laxity, Overlapping toe, Hip dislocation, Brachycephaly, Short foot, Plagiocephaly, Fibular... |
OMIM:618268 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Frontal bossing, Recurrent fractures, Proportionate short stature, Micrognathia, Sup... |
ORPHA:2108 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Pachygyria, Short thumb, Low-set ears, Conductive hearing impairment, Ov... |
OMIM:244300 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Short stature, Proportionate short stature, Joint stiffness, Hypoplasia of the ... |
OMIM:277600 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Simplified gyral pattern, Microlissencephaly, Microphthalm... |
OMIM:617914 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Short stature, Perisylvian polymicrogyria, Flared metaphysis, Advanced ossification... |
OMIM:610442 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Prominent metopic ridge, Micrognathia, Cupped ear, Growth delay, Plagiocephaly, Clinodactyly of t... |
OMIM:619188 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Uplifted earlobe, Micrognathia, Brachycephaly, Protruding ear, Clinodactyly of the ... |
OMIM:607932 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Short thumb, Sensorineural hearing impairment, 2-3 toe syndactyly, Gen... |
ORPHA:2712 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Inguinal hernia, Posteriorly rotated ears, Mi... |
ORPHA:2789 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Micrognathia, Hydrocephalus, Aplasia/Hypopl... |
ORPHA:3301 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Abnormality of neuronal migration, Gray matter heterotopia, Short finger, Clinodactyly |
OMIM:300049 |
Trisomy 10P |
|
Thumb contracture, Wide cranial sutures, Frontal bossing, Small for gestational age, Posteriorly ... |
ORPHA:171929 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Short stature, Carious teeth, Low-set ears, Trigonocephaly, Microphthalmia, Intraute... |
OMIM:616395 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Short stature, Brachycephaly, ... |
OMIM:201180 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Encephalocele, Camptodactyly of finger, H... |
ORPHA:391474 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Trigonocephaly, Large for gestational age, Rhabdomyosarcoma, Hydroceph... |
ORPHA:77301 |
Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Prominent metopic ridge, Brachycephaly, Growth delay, Low-set ears |
OMIM:103050 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... |
OMIM:603194 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Abnormal pinna morphology, Abnormal cortical gyration, Micrognathia, Preaxial hand p... |
OMIM:236680 |
Hypomelanosis Of Ito |
|
Syndactyly, Gray matter heterotopia, Hand polydactyly, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Supernumerary tooth, Protruding ear, Microphthalmia |
ORPHA:627 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Micromelia, Micrognathia, Elbow dislocation, Rocker bottom foot, Spina b... |
ORPHA:99776 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Retrognathia, Hypoplasia of teeth, Growth delay, Keratoc... |
OMIM:234050 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Agenesis of corpus... |
OMIM:256520 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Frontal bossing, Sandal gap, Short stature, Micrognathia, Joint stiffness, Decreased ... |
OMIM:619127 |
Pallister-Hall Syndrome |
|
Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydac... |
OMIM:146510 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim... |
OMIM:607323 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Flat occiput, Simplified gyral pattern, Protruding ear, Microphthalmia |
OMIM:152950 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Short clavicle... |
OMIM:169550 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, Clinodactyly of the 5th finge... |
OMIM:612474 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor... |
ORPHA:95717 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, S... |
OMIM:619638 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Sensorineural hearing impairment, P... |
ORPHA:139471 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Partial agenesis of the corpus callosum, Brachycephaly, Prominen... |
OMIM:135900 |
Ogden Syndrome |
|
Microretrognathia, Frontal bossing, Inguinal hernia, Torticollis, Broad hallux, Postnatal growth ... |
ORPHA:276432 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Enlarged interphalangeal joints, Proximal placement of thumb, ... |
ORPHA:2988 |
Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Prominent f... |
OMIM:180849 |
Hypomandibular Faciocranial Dysostosis |
|
Craniosynostosis, Brachycephaly, Low-set ears, Trigonocephaly, Maxillozygomatic hypoplasia, Midfa... |
ORPHA:1790 |
Achard Syndrome |
|
Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly |
OMIM:100700 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Macrotia, Neural tube defect |
OMIM:600776 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Brachycephaly, Gray matter heterotopia, Low-set ears, Tracheomalacia |
OMIM:618797 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Conductive hearing impairment, Dislocated radia... |
OMIM:102500 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Periventricul... |
ORPHA:261250 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Duplication of thumb phalanx, Micrognathia, Joint stiffness, Pachygyria,... |
ORPHA:2995 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Frontal bossing, Mixed hearing impairment, Obesity, Gray matter heterotopia, Low-set ears, Thicke... |
OMIM:608624 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Frontal bossing, Decreased muscle mass, Micrognathia, Split hand, Large fontanelles, ... |
OMIM:261515 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Congenital hip dislocation, Sm... |
OMIM:268400 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Micromelia, Proximal placement of thumb, Brachycep... |
ORPHA:199 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Limb... |
OMIM:207950 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Small earlobe, Short stature, Micrognathia, Hypoplasia of the maxilla, E... |
OMIM:613805 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Recurrent fractures, Reduced bone mineral density, Increased suscept... |
OMIM:166220 |
Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... |
ORPHA:2791 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha... |
ORPHA:974 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Hand polydactyly, Biparietal nar... |
ORPHA:475 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Asym... |
ORPHA:3063 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Gray matter heterotopia, Hip dysplasia, Polydactyly |
ORPHA:531151 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Overfolding of the superior helices, Hypoplastic ischia, Micrognathia, B... |
ORPHA:313855 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Micrognathia, Hydrocephalus, Preaxial polydactyly, Myopathy, Stillbirth, ... |
OMIM:243605 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Brachycephaly, Disproportionate shortening... |
OMIM:263520 |
Aica-Ribosuria Due To Atic Deficiency |
|
Frontal bossing, Prominent metopic ridge, Brachycephaly, Low-set ears |
OMIM:608688 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia, Plagiocephaly |
OMIM:308350 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Brachycephaly, Genu valgum, Growth delay, Posterior plagiocephaly, Microtia, Joint h... |
OMIM:617798 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Abnormal pinna morphology, Patellar aplasia, Brachycephaly, Patellar hyp... |
ORPHA:495818 |
Fragile X Syndrome |
|
Joint laxity, Mandibular prognathia, Periventricular heterotopia, Macrotia, Metacarpophalangeal j... |
OMIM:300624 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Frontal bossing, Short stature, Abnormal cortical gyration, Hearin... |
OMIM:311200 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Brachycephaly |
ORPHA:1173 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Congenital diaphragmatic hernia, Osteopathia striata, S... |
OMIM:305600 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short stature, Brachycephaly, Talipes equinovarus, Low-set ears, Neonatal death, Clinodactyly of ... |
OMIM:619859 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Flat occiput, Micrognathia, Short metatarsal, Protruding ear, Abnorma... |
OMIM:216340 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Short stature, Micrognathia, Fatty replacement of skeletal muscle, Flexi... |
OMIM:255995 |
Ohdo Syndrome, X-Linked |
|
Inguinal hernia, Ulnar deviation of the hand, Overlapping toe, Posteriorly rotated ears, Hiatus h... |
OMIM:300895 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Overlapping toe, Short stature, Protruding ear, Low-set ears,... |
OMIM:618571 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Micrognathia, Generalized joint laxity, Hypermobility of interphalangeal j... |
ORPHA:508498 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Skeletal muscle atrophy, Limb joint contracture, Short stature, Tapere... |
OMIM:301072 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Wide cranial sutures, Crumpled long bones, Rhizomelia, Recurrent fractures, Protrusio... |
OMIM:610682 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Micrognathia, Joint stiffness, Pachygyria, Liss... |
ORPHA:2510 |
Fanconi Anemia, Complementation Group S |
|
Short stature, Proximal placement of thumb, Dental malocclusion, Microphthalmia, Clinodactyly, Fa... |
OMIM:617883 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Short stature, Micrognathia, Postaxial hand p... |
ORPHA:1620 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Omphalocele, Single interphalangeal crease of fifth finger, Hearing ... |
OMIM:257920 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Thickened helices, Trigonoceph... |
ORPHA:1587 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Increased skull ossification, Craniofacial osteosclerosis, Metaphyse... |
OMIM:618476 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Frontal bossing, Posteriorly rotated ears, Down-sloping shoulders, Short statu... |
ORPHA:1974 |
Vici Syndrome |
|
Short stature, Joint stiffness, Hypoplasia of the pons, Sensorineural hearing impairment, Gray ma... |
ORPHA:1493 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Hiatus hernia, Postna... |
OMIM:304050 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Cupped ear,... |
ORPHA:1352 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly, Microphthalmia, Agenesis of corpus ... |
ORPHA:77298 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, Brachycephaly, Protruding ear, Joint laxity, Microre... |
OMIM:601776 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Uplifted earlobe, 2-3 toe syndactyly, Low-set ears, Microphthalmia, Retrognathia... |
OMIM:616449 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Abnormal pinna morphology, Short stature, Micrognathia, Carious teeth... |
OMIM:244450 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Disproportionate sh... |
OMIM:619131 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Flat occiput, Delayed closure of the anterior fontanelle, Micrognathia, Large fontanelles, Gray m... |
OMIM:614887 |
Holoprosencephaly |
|
Omphalocele, Frontal bossing, Encephalocele, Anophthalmia, Failure to thrive in infancy, Flat occ... |
ORPHA:2162 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Periventricular heterotopia, Sensorineural hearing impairment, Knee fle... |
OMIM:618733 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration, Hearing impairment |
ORPHA:65 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... |
OMIM:617952 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ... |
OMIM:263650 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Micrognathia, Obesity, Upper limb undergrowth, Brachycephaly, Slend... |
ORPHA:369837 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Posteriorly rotated ears, Short stature, Brachycephaly, Cutaneous s... |
OMIM:148050 |
Orofaciodigital Syndrome Xvi |
|
Inguinal hernia, Postaxial hand polydactyly, Postaxial foot polydactyly, Gray matter heterotopia,... |
OMIM:617563 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius |
ORPHA:3469 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... |
OMIM:309350 |
Grant Syndrome |
|
Wormian bones, Down-sloping shoulders, Tibial bowing, Micrognathia |
OMIM:138930 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Triphalangeal thumb, Conductive hearing impairment, Vertebral fusion, Fing... |
ORPHA:959 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Microphthalmia, Split foot |
OMIM:601349 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Microretrognathia, Scapular winging, Short sta... |
OMIM:278250 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,... |
OMIM:231070 |
Humeroradial Synostosis |
|
Brachycephaly, Small earlobe, Humeroradial synostosis, Microtia |
OMIM:236400 |
Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... |
ORPHA:33364 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Turricephaly, Ulnar deviation of the hand, Short stature, Rocker bottom foot, Metatar... |
OMIM:272950 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Short stature, C... |
ORPHA:568 |
Fucosidosis |
|
Decreased muscle mass, Lipoatrophy, Brachycephaly, Failure to thrive, Hearing impairment |
ORPHA:349 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Frontal bossing, Arachnodactyly, Micrognathia, Thin calvarium, Midface retrusion, Delayed cranial... |
ORPHA:1129 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Posteriorly rotated ears, Hypoplasia of the max... |
OMIM:211380 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Camptodactyly of finger, Joint... |
ORPHA:1606 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Hearing impairment, Aplasia of the distal phalanx of the 5th toe, Intrau... |
ORPHA:364577 |
Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Obesity, Macroglossia |
OMIM:105830 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Lig4 Syndrome |
|
Micrognathia, Brachycephaly, Growth delay, Biparietal narrowing, Clinodactyly of the 5th finger |
ORPHA:99812 |
Parietal Foramina 1 |
|
Wormian bones, Encephalocele, Parietal foramina |
OMIM:168500 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Small for gestational age, Short stature, Anteverted e... |
OMIM:610443 |
Lig4 Syndrome |
|
Small for gestational age, Brachycephaly, Clinodactyly of the 5th finger, Failure to thrive, Chro... |
OMIM:606593 |
Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Proximal placement of thumb, Uplifted earlobe, Protruding ear, S... |
OMIM:613406 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Brachycephaly, Atypica... |
OMIM:601701 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Femoral bow... |
OMIM:166200 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Craniosynostosis, Sagi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Craniosynostosis, Sagi... |
ORPHA:352665 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Hypoplasia of the brainstem, Short stature, Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Hearing impairment |
OMIM:120433 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Short stature, Macrotia, Flexion contracture, Absence of subcutaneous ... |
OMIM:601675 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Flat occiput, Overlapping toe, Flexion contracture, Plagiocephaly, Low-set ears, Overlapping fing... |
OMIM:619383 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Craniosynostosis, Tapered finger, Micrognathia, Absence of subcutaneous fat, Sma... |
OMIM:620005 |
Brain Small Vessel Disease 2 |
|
Growth delay, Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Inguinal hernia, Uplifted earlobe, Large for gestatio... |
OMIM:280000 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Short stature, Prominent crus of helix, Small hand, Brachycephaly, Genu va... |
ORPHA:1449 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Clinodactyly of the 5th finger, Overlapping toe, Low-set ears, Periventricular heterotopia |
OMIM:618974 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Hypoplasia of the iris, Multiple central nervous system lipomas, Lipoma, Limbal de... |
OMIM:613001 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Short stature, Abnormality of neuronal migration, Protruding ear, Biparietal narrowing, Intrauter... |
ORPHA:2518 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Large hands, Abnormality of neuronal migration |
ORPHA:3307 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Inguinal hernia, Short stature, Micrognathia, Abnormality of the elbow, Sm... |
ORPHA:85276 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Gray matter heterotopia, Postaxial hand polydactyly |
OMIM:617622 |
Gapo Syndrome |
|
Frontal bossing, Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Micr... |
OMIM:230740 |
Aica-Ribosiduria |
|
Brachycephaly, Low-set ears |
ORPHA:250977 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Clino... |
ORPHA:84 |
Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Scapular winging, Short stature, Sensorineural hearing impairm... |
ORPHA:500 |
Holoprosencephaly 14 |
|
Frontal bossing, Proboscis, Periventricular heterotopia, Aqueductal stenosis, Alobar holoprosence... |
OMIM:619895 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Short stature, Severe postnatal growth retardation, Macroglossia, Malar flatteni... |
OMIM:613038 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Increased variability in muscle fiber diameter, Buphthalmos, Muscular dystrophy, M... |
OMIM:616538 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Inguinal hernia, Midface retrusion |
ORPHA:1135 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Overfolded helix, Brachycephaly |
OMIM:616083 |
Immunodeficiency 49 |
|
Natal tooth, Posteriorly rotated ears, Micrognathia, Wormian bones, Umbilical hernia, Agenesis of... |
OMIM:617237 |
Osteopetrosis, Autosomal Recessive 8 |
|
Frontal bossing, Facial palsy, Unilateral microphthalmos, Osteopetrosis, Failure to thrive |
OMIM:615085 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Severe generalized osteoporosis, Micrognathia, Hypoplastic... |
OMIM:210730 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Micrognathia, Sensorineural hearing impairment, Protruding ear, Gro... |
OMIM:614230 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Severe short stature, Foot joint contracture, Abnormal midbrain morphology, Infa... |
ORPHA:444072 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Midface retrusion, Increased density of long bones, Wide distal femoral metaphysis, Postnatal gro... |
OMIM:269150 |
Familial Thyroid Dyshormonogenesis |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Sensorineural heari... |
ORPHA:95716 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Acrania, Micrognathia, Joint stiffness, Dysplastic corpus callosum, Prot... |
OMIM:618820 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ... |
ORPHA:93325 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Natal tooth, Bowing of the long bones, Syndactyly, Occipital encephalocele, Camptoda... |
OMIM:249000 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus,... |
ORPHA:3186 |
Sifrim-Hitz-Weiss Syndrome |
|
Short stature, Trigonocephaly, Tapered finger, Cupped ear, Flat acetabular roof, Fused cervical v... |
OMIM:617159 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of corpus callosum |
OMIM:614402 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Tibial bowing, Wide anterior fontanel, Abnormal cochlea morphology, Sclerosis of sk... |
ORPHA:798 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Doors Syndrome |
|
Frontal bossing, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, A... |
ORPHA:79500 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Down-sloping shoulders, Spina bifida, H... |
OMIM:109400 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Fem... |
ORPHA:198 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Short stature, Micrognathia, Macrotia, Cupped ear, Microphthalmia, Brachyc... |
OMIM:309500 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Broad hallux, Posteriorly rotated ears, ... |
OMIM:615948 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Pachygyria, Hydrocephalus, Rhabdomyolysis, Abnormality of neuronal migration, Myopathy, Polymicro... |
ORPHA:157 |
Alg11-Cdg |
|
Retrognathia, Gray matter heterotopia, Limb hypertonia, Abnormal adipose tissue morphology, Failu... |
ORPHA:280071 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Amelia involving the lower limbs, Attached earlobe, Mixed hearing impairme... |
ORPHA:1299 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus, Obesity |
OMIM:601794 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Frontal bossing, Posteriorly rotated ears, Periventricular heterotopia, Low-set ears, Thickened h... |
OMIM:618929 |
Fryns Syndrome |
|
Omphalocele, Low-set, posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Cl... |
ORPHA:2059 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia, Shoulder dislocation, Patellar dislocation, Hernia, Joint hypermobility |
ORPHA:98892 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly,... |
OMIM:227646 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Pituitary dwarfism, Optic nerve hypoplasia, Overweight, Delayed proxi... |
ORPHA:226307 |
Fanconi Anemia, Complementation Group R |
|
Absent thumb, Hydrocephalus, Growth delay, Microphthalmia, Radial dysplasia |
OMIM:617244 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, Simple ear, Joint laxity, Short stature, Facial palsy, Short thumb,... |
OMIM:619325 |
Nance-Horan Syndrome |
|
Macrotia, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri... |
OMIM:302350 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Rhabdomyosarcoma, Micrognathia... |
ORPHA:1052 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Scarring alopecia of scalp, Clinodactyly,... |
OMIM:618727 |
Chime Syndrome |
|
Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the hand, Hip disl... |
ORPHA:3474 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Abnormal pinna morphology, Wide anterior fontanel, Rha... |
ORPHA:26791 |
Fryns Syndrome |
|
Microretrognathia, Omphalocele, Rocker bottom foot, Proximal placement of thumb, Large for gestat... |
OMIM:229850 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Diaphragmatic eventration, Agenesis of corpus callosum, Syndactyly, Hia... |
OMIM:619488 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Contracture of ... |
OMIM:300166 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Brachycephaly, Cranium bifidum occultum, Microphthalmia, Malar flatteni... |
OMIM:229400 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Frontal bossing, Sandal gap, Broad hallux, Obesity, Brachycephaly, Hip dysplasia, Cutaneous finge... |
OMIM:616078 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Brachycephaly, Hypoplasia of the brainstem, Joint laxity,... |
ORPHA:480880 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flex... |
OMIM:259050 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Craniosynostosis, Plagiocephaly, Gray matter heterotopia, Hi... |
ORPHA:453499 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Short stature, Brachycephaly, Hernia, Midface retrusion |
ORPHA:1394 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Micrognathia, Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Flat occiput, Micrognathia, Protruding ear, Low-set, posteriorly rotated e... |
ORPHA:534 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Conductive hearing impairment, Small earlobe, Arachnodactyly, Abnormal dental ename... |
ORPHA:567 |
Osteopetrosis With Renal Tubular Acidosis |
|
Short stature, Recurrent fractures, Micrognathia, Persistence of primary teeth, Macrotia, Retrogn... |
ORPHA:2785 |
Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hypoplasia of the semicircular cana... |
ORPHA:138 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Sensorineural hearing impairment |
ORPHA:1473 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Short stature, Thickened helices, Tap... |
OMIM:619950 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Front... |
OMIM:206900 |
Refsum Disease |
|
Skeletal muscle atrophy, Short metacarpal, Sensorineural hearing impairment, Hammertoe, Abnormal ... |
ORPHA:773 |
Down Syndrome |
|
Joint laxity, Sandal gap, Short stature, Hypoplastic iliac wing, Conductive hearing impairment, B... |
OMIM:190685 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Tapered fing... |
ORPHA:464311 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Short stature, Micrognathia, External ear mal... |
ORPHA:2505 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Unilateral microphthalmos, Malar flattening, Enamel hypoplasia, Failure to thrive,... |
OMIM:618874 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Large fontanelles, Osteolyti... |
OMIM:259100 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Pallister-Hall Syndrome |
|
Large for gestational age, Holoprosencephaly, Microretrognathia, Mesoaxial polydactyly, Low-set, ... |
ORPHA:672 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Severe short stature, Small for gestational age, Short stature, D... |
OMIM:127000 |
Peters-Plus Syndrome |
|
Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Proximal placement of thumb, Sho... |
OMIM:261540 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Prominent metopic ridge, Posteriorly rotated ears, Micrognathia, Aplasia of the distal phalanx of... |
OMIM:608670 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Frontal bossing, Short stature, Tapered finger, Short thumb, Brachycephaly, Lower limb hypertonia... |
OMIM:616728 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Severe short stature, Abnormal dental enamel morphology, Congenital diaphragmatic h... |
ORPHA:2556 |
Oculodentodigital Dysplasia |
|
Abnormal pinna morphology, Carious teeth, Conductive hearing impairment, Clinodactyly, 4-5 finger... |
OMIM:164200 |
Tenorio Syndrome |
|
Osteopenia, Mandibular prognathia, Joint laxity, Hydrocephalus, Macroglossia, Keratoconjunctiviti... |
OMIM:616260 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Brachycephaly, Conductive hearing impairment, Clinodactyly of the 5th f... |
ORPHA:709 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Inguinal hernia, Postaxial hand polydactyly, Hydrocephalus, Abnormality ... |
ORPHA:1454 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Short stature, Unilateral microphthalmos, Simple ear |
OMIM:619318 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Micrognathia, Hydrocephalus, Growth delay, Anotia, Bilateral talipes... |
OMIM:614083 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Lateral ventricle dilatation, Microphthalmia, Failure to thriv... |
OMIM:300952 |
Menkes Disease |
|
Inguinal hernia, Osteomyelitis, Bowing of the long bones, Tarsal synostosis, Recurrent fractures,... |
ORPHA:565 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Cupped ear, Brachycephaly, Contracture of the proximal interphalangeal joint of th... |
OMIM:618223 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microt... |
OMIM:603467 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Low-set ears, Abnormal metacarpal morph... |
ORPHA:284160 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Micrognathia, Joint stiffness, Brachycephaly, Large hands |
ORPHA:2062 |
Wrinkly Skin Syndrome |
|
Osteopenia, Delayed eruption of teeth, Inguinal hernia, Congenital hip dislocation, Lipodystrophy... |
ORPHA:2834 |
Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Low-set ears, Microphthalmia, Failure to thrive, I... |
ORPHA:2470 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Inguinal hernia, Short stature, Micrognathia, Carious teet... |
OMIM:223370 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Mandibular prognathia, Frontal bossing, Sandal gap, Posteriorly rotated ears, Optic... |
OMIM:620330 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Thickened calvaria, Optic disc hypoplasia, Agenesis of corpus callosum, Loss of facia... |
ORPHA:3455 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Hypoplasia of teeth, Microtia, Microphthalmia, Intrauterine growth ... |
ORPHA:2728 |
Congenital Disorder Of Deglycosylation 1 |
|
Facial hypotonia, Small hand, Osteoporosis, Brachycephaly, Intrinsic hand muscle atrophy, Short f... |
OMIM:615273 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Short stature, Small for gestational age, Pachygyria, Gray matter heterot... |
OMIM:620024 |
Vici Syndrome |
|
Micrognathia, Postnatal growth retardation, Sensorineural hearing impairment, Gray matter heterot... |
OMIM:242840 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Short metacarpal, Brachydactyly, Short stature, Short metatarsal, Obesity, Retro... |
OMIM:617157 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal de... |
ORPHA:464 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria |
OMIM:617397 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Proximal placement of thumb, Micrognathia, Conductive hearing impairment, Clinodact... |
OMIM:113620 |
Hennekam-Beemer Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Conductive hearing impairment, Microtia, Cl... |
ORPHA:2135 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos, Posteriorly rotated ears, Atresia of the external auditory canal, Hear... |
OMIM:301018 |
Atelis Syndrome 2 |
|
Frontal bossing, Micrognathia, Protruding ear, Low-set ears, Microphthalmia, Clinodactyly, Dacryo... |
OMIM:620185 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Finger syndactyly, Toe syndactyly |
ORPHA:261272 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Brachycephaly, Femoral bowing, Conductive hearing impairment, Simple ear, Cloverleaf skull, Arach... |
OMIM:201750 |
Periventricular Nodular Heterotopia 9 |
|
Prominent metopic ridge, Posteriorly rotated ears, Periventricular nodular heterotopia, Tapered f... |
OMIM:618918 |
3Q29 Microdeletion Syndrome |
|
Tapered finger, Macrotia, Joint hyperflexibility, Low-set ears, Clinodactyly of the 5th finger, M... |
ORPHA:65286 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia |
OMIM:613730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Micrognathia, Polymicrogyria, Hydrocephalus, Buphthalmos, Hypoplasia of the brainstem, Hypoplasia... |
OMIM:253280 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Failure to thrive in infancy |
OMIM:618805 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Short stature, Absent thumb, Absent radius, Short thumb, Flexion contr... |
OMIM:227645 |
Proteus Syndrome |
|
Decreased muscle mass, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of... |
ORPHA:744 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Arachnodactyly, Overlapping toe, Micrognathia, Postnatal growth retardation, Con... |
ORPHA:83617 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the premaxilla, Micr... |
ORPHA:2166 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Trig... |
ORPHA:434179 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short stature, Hearing impairment, Flexion contracture, Limitation of joint mobility, Osteolysis,... |
ORPHA:90153 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Mic... |
OMIM:619503 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Partial agen... |
OMIM:270400 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Sensorineural hearing impairment, Low-set ears |
OMIM:618652 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Micrognathia, Severe sensorineural hearing impairment, Conductive hearing impairment, Broad hallu... |
OMIM:620186 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Frontal bossing, Posteriorly rotated ears, Abnormal pinna morphology, Short stature, ... |
OMIM:616975 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Postnata... |
OMIM:309000 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly |
ORPHA:1942 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hypoplasia of... |
OMIM:184705 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Posteriorly rotated ears, Short stature, Uplifted earlobe, Tapered finger, Carious teeth, Microgn... |
OMIM:616734 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Genu recurvat... |
OMIM:619539 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly |
OMIM:147250 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Obesity, Abnormal neuron morphology, Abnormality of neuronal migration |
ORPHA:163681 |
Townes-Brocks Syndrome |
|
Triphalangeal thumb, Clinodactyly of the 5th finger, Limbal dermoid, Agenesis of corpus callosum,... |
ORPHA:857 |
Bilateral Perisylvian Polymicrogyria |
|
Micrognathia, Weakness of facial musculature, Flexion contracture, Perisylvian predominant thick ... |
ORPHA:98889 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Bowing of the long bones, Anophthalmia, Microgn... |
ORPHA:564 |
Viss Syndrome |
|
Micrognathia, Generalized joint laxity, Brachycephaly, Joint laxity, Microretrognathia, Long toe,... |
OMIM:619472 |
Oculo-Palato-Cerebral Syndrome |
|
Short stature, Small hand, Short foot, Thickened helices, Microphthalmia, Macrotia, Joint hypermo... |
ORPHA:2714 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Protruding ear, Keratoconjunctivitis sicca, Microphthalmia, Hearing impairment |
ORPHA:1806 |
Rodrigues Blindness |
|
Microphthalmia, Short stature, Protruding ear |
OMIM:268320 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Short stature, Absent thumb, Absent radius, Short thumb, Microphthalmi... |
OMIM:600901 |
Diamond-Blackfan Anemia 1 |
|
Short stature, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication of ... |
OMIM:105650 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, High-frequency sensorineural hearing impairment, Skeletal mu... |
ORPHA:191 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Wormian bones, Short stature, Hearin... |
ORPHA:444077 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Short toe, Brachycephaly, Clinodactyly of the 5th finger, Low-set... |
ORPHA:1519 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Congenital diaphragmatic hernia, Hydrocephalus, Colpocephaly, Microphthalmia, Agen... |
OMIM:309801 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ... |
ORPHA:228308 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductiv... |
OMIM:164210 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Microphthalmia, Clubbing of fingers, Right ventricular hypertrophy |
ORPHA:335 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Short stature, Absent thumb, Absent radius, Short thumb, Microphthalmi... |
OMIM:227650 |
Charge Syndrome |
|
Anophthalmia, Micrognathia, Hand monodactyly, Holoprosencephaly, Hypoplasia of the ulna, Facial p... |
OMIM:214800 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Anophthalmia, Short stature, Severe short stature, Congenital diaphragmatic hern... |
OMIM:601186 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Micromelia, Finger clinodactyly, Clinodactyly of the 5th finger, Spin... |
ORPHA:508488 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Nasolacrimal duct obstruction, Macular hypoplasia, Low-set ears, Microphakia, Mic... |
OMIM:612109 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Atrophic scars, Joint su... |
OMIM:617821 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Arachnodactyly, Broad hallux, Cubitus valgus, Dental malocclusion, Short finger, Mi... |
OMIM:601552 |
Ogden Syndrome |
|
Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Protruding ear, Clinodactyl... |
OMIM:300855 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Growth delay, Macro... |
ORPHA:90674 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Obesity |
ORPHA:363741 |
Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Genu recurvatum, Growth delay, Prominent occiput, Plagiocephaly, Biparietal narr... |
ORPHA:2612 |
Cat Eye Syndrome |
|
Short stature, Micrognathia, Absent radius, Low-set ears, Microphthalmia, Umbilical hernia, Heari... |
OMIM:115470 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal pinna morphology, Abnormal... |
OMIM:219000 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Hearing impairment, Micro... |
OMIM:606170 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration |
ORPHA:2481 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Frontal bossing, Inguinal hernia, Overlapping toe, Tapered finger, 2-3 toe syndactyly, Obesity, L... |
OMIM:618653 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Dental mal... |
OMIM:603457 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Overfolded helix, Posteriorly rotated ears, Brachycephaly, Low-set ears |
OMIM:608980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het... |
OMIM:615287 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hallux valgus, Cachexia, Sensorineural hearing impairment, Hydrocephalus, Brachycephaly, Growth d... |
ORPHA:2072 |
Familial Exudative Vitreoretinopathy |
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Microphthalmia, Hearing impairment, Reduced bone mineral density |
ORPHA:891 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Uplifted earlobe, Flexion contracture, Calcaneovalgus deformity, Agenesis ... |
ORPHA:261537 |
Holoprosencephaly 2 |
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Aplasia of the premaxilla, Proboscis, Alobar holoprosencephaly, Absent nasal septal cartilage, Ag... |
OMIM:157170 |
Congenital Primary Aphakia |
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Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Osteoporosis-Pseudoglioma Syndrome |
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Osteopenia, Short stature, Recurrent fractures, Metaphyseal widening, Phthisis bulbi, Osteoporosi... |
OMIM:259770 |
Microphthalmia, Isolated, With Coloboma 9 |
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Microphthalmia, Macrotia, Low-set ears |
OMIM:615145 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia, Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
Nijmegen Breakage Syndrome |
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Skeletal muscle atrophy, Short stature, Cachexia, Rhabdomyosarcoma, Retrognathia, Abnormality of ... |
ORPHA:647 |
Autosomal Dominant Cutis Laxa |
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Osteopenia, Joint laxity, Inguinal hernia, Genu recurvatum, Postnatal growth retardation, Hip dis... |
ORPHA:90348 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Omphalocele, Diastasis recti, Micrognathia, Brachycephaly, Low-set ears, Neonatal death, Retrogna... |
OMIM:265380 |
Cockayne Syndrome Type 3 |
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Skeletal muscle atrophy, Mild postnatal growth retardation, Carious teeth, Flexion contracture, K... |
ORPHA:90324 |
Holoprosencephaly 1 |
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Short stature, Proboscis, Alobar holoprosencephaly, Microphthalmia, Ethmocephaly, Agenesis of cor... |
OMIM:236100 |
Proboscis Lateralis |
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Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Proboscis, Abnormal para... |
ORPHA:141099 |
Fraser Syndrome |
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Omphalocele, Finger syndactyly, Low-set, posteriorly rotated ears, Toe syndactyly, Anophthalmia, ... |
ORPHA:2052 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Joint laxity, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ... |
ORPHA:522077 |
Aprosencephaly And Cerebellar Dysgenesis |
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Craniosynostosis, Micrognathia, Aprosencephaly, Talipes equinovarus, Absent mesencephalon |
OMIM:601374 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Anophthalmia |
OMIM:611038 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Uplifted earlobe, Flexion contracture, Calcaneovalgus deformity, Agenesis ... |
ORPHA:261552 |
Autosomal Recessive Cutis Laxa Type 1 |
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Joint laxity, Inguinal hernia, Severe short stature, Wide anterior fontanel, Hip dislocation, Joi... |
ORPHA:90349 |
Arima Syndrome |
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Brainstem dysplasia, Postaxial hand polydactyly, Postaxial foot polydactyly, Growth delay, Hypopl... |
OMIM:243910 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Uplifted earlobe, Flexion contracture, Calcaneovalgus deformity, Conductiv... |
ORPHA:2152 |
Tetraamelia Syndrome 1 |
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Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Hypoplastic pelvis, Low-set ears, M... |
OMIM:273395 |
Histiocytoid Cardiomyopathy |
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Hydrocephalus, Microphthalmia, Failure to thrive, Agenesis of corpus callosum, Congenital aphakia |
ORPHA:137675 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Recurrent patellar dislocation, Microphthalmia, 3-4... |
OMIM:615877 |
Microphthalmia, Syndromic 5 |
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Joint laxity, Anophthalmia, Short stature, Optic nerve hypoplasia, Microphthalmia |
OMIM:610125 |
Idiopathic Uveal Effusion Syndrome |
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Microphthalmia |
ORPHA:209956 |
Adams-Oliver Syndrome 1 |
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Encephalocele, Toe syndactyly, Polymicrogyria, Talipes equinovarus, Microphthalmia, Pachygyria, C... |
OMIM:100300 |
Anterior Segment Dysgenesis 5 |
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Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Microphthalmia, Isolated 8 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Buphthalmos, Microphthalmia, Corneal scarring |
OMIM:212550 |
Papillorenal Syndrome |
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Joint laxity, Microphthalmia, Sensorineural hearing impairment, Short stature |
OMIM:120330 |
Manitoba Oculotrichoanal Syndrome |
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Omphalocele, Microphthalmia, Anophthalmia, Nasolacrimal duct obstruction |
OMIM:248450 |
Pagod Syndrome |
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Omphalocele, Encephalocele, Short stature, Congenital diaphragmatic hernia, Spina bifida, Meningo... |
ORPHA:991 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia, Agenesis of corpus callosum, Rhabdomyosarcoma |
OMIM:276300 |
Exudative Vitreoretinopathy 2, X-Linked |
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Microphthalmia |
OMIM:305390 |
Lymphedema-Distichiasis Syndrome |
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Microphthalmia, Cellulitis, Conjunctivitis, Micrognathia |
OMIM:153400 |
Incontinentia Pigmenti |
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Delayed eruption of teeth, Hypoplasia of the fovea, Short stature, Scarring, Microphthalmia |
OMIM:308300 |
Aspartylglucosaminuria |
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Joint laxity, Short stature, Hypoplastic frontal sinuses, Brachycephaly, Macroglossia, Hernia, Pa... |
OMIM:208400 |
Autosomal Dominant Keratitis |
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Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, C... |
OMIM:601803 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Microphthalmia |
OMIM:619053 |
Vitreoretinochoroidopathy |
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Microphthalmia |
OMIM:193220 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Anophthalmia, Severe short stature, Protruding ear, Panniculitis, Cellulitis, Microphthalmia |
ORPHA:2526 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia, Keratoconjunctivitis sicca, Conjunctivitis, Sensorineural hearing impairment |
OMIM:278730 |
Common Variable Immunodeficiency |
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Failure to thrive in infancy, Brachycephaly |
ORPHA:1572 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia, Nasolacrimal duct obstruction |
ORPHA:2717 |
Cornea Plana 2, Autosomal Recessive |
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Microphthalmia |
OMIM:217300 |
Xeroderma Pigmentosum, Complementation Group B |
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Microphthalmia, Sensorineural hearing impairment, Short stature |
OMIM:610651 |
Hypermobile Ehlers-Danlos Syndrome |
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Joint dislocation, Inguinal hernia, Elbow dislocation, Osteoarthritis, Limitation of joint mobili... |
ORPHA:285 |
Anterior Segment Dysgenesis 7 |
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Buphthalmos, Microphthalmia |
OMIM:269400 |
Fraser Syndrome 2 |
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Microphthalmia, Atresia of the external auditory canal, Low-set ears, Cutaneous syndactyly |
OMIM:617666 |
Anterior Segment Dysgenesis 2 |
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Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Medulloblastoma |
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Hydrocephalus, Bilateral sensorineural hearing impairment, Delayed cranial suture closure |
ORPHA:616 |
Microphthalmia, Isolated, With Corectopia |
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Microphthalmia |
OMIM:156900 |
Isolated Arrhinia |
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Microphthalmia, Microtia, Hypoplasia of the nasal bone, Absent nasal septal cartilage |
ORPHA:1134 |
Coloboma, Ocular, Autosomal Dominant |
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Microphthalmia, Optic nerve aplasia, Growth delay |
OMIM:120200 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Short stature, Uplifted earlobe, Cupped ear, Generalized muscle hypert... |
OMIM:235730 |
Norrie Disease |
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Aplasia/Hypoplasia of the lens, Cachexia, Macrotia, Sensorineural hearing impairment, Protruding ... |
ORPHA:649 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia, Cupped ear |
OMIM:110100 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Anophthalmia, Abnormal pinna morphology, Down-sloping shoulders, Overfolded helix, Ag... |
OMIM:309800 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Failure of eruption of permanent teeth, Inguinal hernia, Anophthalmia |
ORPHA:2250 |
Phace Syndrome |
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Microphthalmia, Lens coloboma, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:42775 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Microphthalmia |
ORPHA:231736 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment, Buphthalmos |
OMIM:310600 |
Oculopalatocerebral Syndrome |
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Microphthalmia, Short stature |
OMIM:257910 |
Treacher Collins Syndrome 1 |
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Lacrimal duct stenosis, Micrognathia, Bilateral microphthalmos, Microtia, Atresia of the external... |
OMIM:154500 |
Persistent Hyperplastic Primary Vitreous |
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Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Pierson Syndrome |
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Skeletal muscle atrophy, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, ... |
OMIM:609049 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Ohdo Syndrome, Sbbys Variant |
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Posteriorly rotated ears, Micrognathia, Prominent occiput, Patellar dislocation, Low-set ears, Lo... |
OMIM:603736 |
Phace Association |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Short stature, Micrognathia, Hypoplastic ilia, Patell... |
ORPHA:85201 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Failure to thrive, Severe short stature, Posteriorly rotated ears, Camptodactyly of finger, Micro... |
ORPHA:3047 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia, Hydrocephalus, Facial paralysis |
OMIM:175780 |