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Genes Phenotypes Help, News, Blog

Gene: Gtf2ird1 MGI:1861942

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
general transcription factor II I repeat domain-containing 1
Synonyms:
GTF3,  BEN,  ESTM9,  Cream1,  binding factor for early enhancer,  MusTRD1,  WBSCR11

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gtf2ird1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gtf2ird1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Williams Syndrome
Micrognathia, Periorbital edema, Tremor, Compulsive behaviors, Microdontia, Abnormal dental morph... ORPHA:904

The table below shows human diseases predicted to be associated to Gtf2ird1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion OMIM:155050
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Compul... ORPHA:217340
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Aggressive behavior, Open mouth, Obesity, Self-inj... OMIM:613670
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Micrognathia, Hydrocephalus, Dolichocephaly, Dandy-Walker malformation, Orbital ... ORPHA:1538
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Prominent nose, Dental malocclusion, Abnormal repetitive mann... OMIM:615541
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:2015
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Tr... ORPHA:3077
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Fryns Microphthalmia Syndrome
Neural tube defect, Facial cleft OMIM:600776
Mcdonough Syndrome
Mandibular prognathia, Cachexia, Underdeveloped nasal alae, Micrognathia, Prominent nose, Open bi... ORPHA:2471
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Potocki-Lupski Syndrome
Mandibular prognathia, Hyperactivity, Dental crowding, Small for gestational age, Oral-pharyngeal... OMIM:610883
Intellectual Developmental Disorder, X-Linked 91
High palate, Short nose, Macrodontia, Obesity OMIM:300577
Rubinstein-Taybi Syndrome 2
Hyperactivity, Micrognathia, Prominent nose, Carious teeth, Talon cusp, Dental malocclusion, Narr... OMIM:613684
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... OMIM:614669
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Ventricular septal defect, Facial cleft, Anterior encephalocele OMIM:601357
Intellectual Developmental Disorder, Autosomal Recessive 58
Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe... OMIM:617270
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Hydrocephalus, Macrocephaly, Abnormal vertebral morphology, Ventriculomegaly OMIM:618709
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth, Underdeveloped nasal alae OMIM:616108
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Long philtrum OMIM:125700
Clark-Baraitser Syndrome
Thin upper lip vermilion, Hyperactivity, Depressed nasal bridge, Anteverted nares, Exaggerated cu... OMIM:617752
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... ORPHA:1200
Masa Syndrome
Short stature, Hyperlordosis, Microcephaly, Kyphosis, Hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:303350
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, High palate, Anteverted nares, Dental malocclusion OMIM:618292
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... ORPHA:1906
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615938
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na... ORPHA:1248
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... ORPHA:1832
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Restlessness, Irritability, Short nose, Failure to thrive OMIM:618379
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft ORPHA:3374
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Baker-Gordon Syndrome
Thin upper lip vermilion, Choreoathetosis, Self-injurious behavior, Dystonia, Prominent nasal tip... OMIM:618218
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615937
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, L... OMIM:133180
Mulibrey Nanism
Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Hypoplastic frontal s... OMIM:253250
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Melanocytic nevus, Sparse body hai... ORPHA:1008
Gómez-López-Hernández Syndrome
Turricephaly, Short stature, Hydrocephalus, Brachycephaly, Alopecia of scalp, Toenail dysplasia, ... ORPHA:1532
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Small for gestational age, Attention deficit hyperactivity disorder OMIM:245570
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Sacral dimple, Short stature, Craniosynostosis, Micrognathia, Short neck, Hydroc... ORPHA:1516
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep philtrum, High palate, Everte... ORPHA:261120
Acromesomelic Dysplasia, Maroteaux Type
Frontal bossing, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature,... ORPHA:40
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Dental malocclusion, High palate, Dysphagia OMIM:608931
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Truncal obesity, Everted lower lip v... ORPHA:2429
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Wide nose, Anteverted nares, Exaggerated cupid's bow, Narrow nasal ridg... OMIM:619293
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Severe temper tantrums, T... OMIM:619854
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Dental crowding, Impulsivity, S... OMIM:300143
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Open bite, Abnormality of dental... ORPHA:1327
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Kleeblattschaedel
Hydrocephalus, Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Cole-Carpenter Syndrome 2
Microretrognathia, Frontal bossing, Turricephaly, Wide cranial sutures, Short stature, Postnatal ... OMIM:616294
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:168400
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Micrognathia, Hydrocephalus, Unilambdoid synostosis, Brachycephaly,... OMIM:618577
Chung-Jansen Syndrome
Anteverted nares, Impulsivity, Aggressive behavior, Micrognathia, Obesity, Thin vermilion border,... OMIM:617991
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Hypothermia OMIM:618557
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus, Macrocephaly, Dolichocephaly, Calvarial skull defect ORPHA:1931
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy, Hyperactivity, Ataxia, Simplified gyral pattern OMIM:613402
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Diastema, Underdeveloped nasal alae, Dental malocclusion, Malar flattening, Broad c... ORPHA:436245
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Long nose, Underdeveloped nasal alae, H... OMIM:257850
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Aggressive behavior, Dental malocclusion, Wide nasal bridge, Attention ... OMIM:619149
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Generalized amyotrophy, Hypothermia OMIM:610006
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle... OMIM:619736
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, ... OMIM:300558
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Cachexia, Long philtrum, Short nose, Abnormal palate morphology ORPHA:1389
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, High palate, Everted lower lip vermilion, Short nose, Conve... ORPHA:1695
Achondroplasia
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Wide anteri... ORPHA:15
Anophthalmia Plus Syndrome
Facial cleft, Spina bifida ORPHA:1104
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Microcephaly, Hydrocephalus, Scoliosis, Macrocephaly OMIM:300884
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Beaulieu-Boycott-Innes Syndrome
Micrognathia, Long nose, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Low ha... OMIM:613680
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:611808
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Dental maloc... ORPHA:61
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Macrocephaly ORPHA:99966
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Broad nasal tip, Dental malocclusion, Widely-spaced maxillary central i... OMIM:619719
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Depressed nasal bridge, Tongue thrusting, Pica, Downturned corners of mouth, Stere... OMIM:617865
Acrootoocular Syndrome
Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish enamel, High, narrow ... ORPHA:2980
Spontaneous Periodic Hypothermia
Ataxia, Hypothermia, Gait disturbance ORPHA:29822
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hsd10 Disease
Short attention span, Ataxia, Postnatal growth retardation, Tremor, Choreoathetosis, Gait disturb... ORPHA:391417
Fanconi Anemia, Complementation Group S
Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped nasal alae, Dental malocclu... OMIM:617883
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Ventriculomegaly, Delayed cranial suture closure, Craniosynostosis, Hydrocephalu... OMIM:175700
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Microcephaly, Kyphosis, Hip dislocation, Scoliosis, Hirsutism OMIM:300434
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... OMIM:614744
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum ORPHA:438178
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose OMIM:300581
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Abnormality of the knee, Rhizomelia, Short stature, Short neck, Micrognat... ORPHA:3098
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Riboflavin Deficiency
Lethargy, Hypothermia OMIM:615026
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Craniosynostosis 6
Turricephaly, Dandy-Walker malformation, Delayed cranial suture closure, Craniosynostosis, Microc... OMIM:616602
Three M Syndrome 2
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Small for gestational age, D... OMIM:612921
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition ORPHA:1858
1Q21.1 Microduplication Syndrome
Frontal bossing, Hydrocephalus, Hip dislocation, Macrocephaly ORPHA:250994
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Synophrys, Hydrocephalus, Lobar holopros... OMIM:609637
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Disproportionate shor... OMIM:271530
Kleefstra Syndrome 2
Microcephaly, Kyphosis, Growth delay, Plagiocephaly, Scoliosis, Midface retrusion, Thick eyebrow OMIM:617768
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Cri-Du-Chat Syndrome
Microretrognathia, Hyperactivity, Small for gestational age, Aggressive behavior, Thick lower lip... OMIM:123450
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft, Ethmoidal encephalocele OMIM:607597
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Obe... OMIM:157980
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Kyphoscoliosis, Short neck, M... OMIM:613330
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Macrocephaly OMIM:607091
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick... OMIM:618506
Pierpont Syndrome
Smooth philtrum, Wide nose, Broad nasal tip, Broad philtrum, Prominent median palatal raphe, Thin... OMIM:602342
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Frontal bossing, Short stature, Micrognathia, Hydrocephalus, Coronal... OMIM:112240
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Micrognathia, High palate, Short philtrum, Microdontia, Self-mutilation, Abnorma... ORPHA:251028
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Short nec... ORPHA:99776
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Short stature, Absent facial hair, Short neck, Hydrocephalus, Low posterior h... ORPHA:2183
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Micrognathia... OMIM:616331
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... ORPHA:1529
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Hypothermia... ORPHA:90674
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus, Brachycephaly, Melanocytic nevus, Midface retrusion OMIM:612247
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Short stature, Hirsutism, Congenital bilateral hip dislocation ORPHA:85288
Spastic Paraplegia 18B, Autosomal Recessive
Ankle clonus, Kyphosis, Scoliosis OMIM:611225
Cornelia De Lange Syndrome 2
Thick eyebrow, Ventriculomegaly, Short stature, Highly arched eyebrow, Micrognathia, Postnatal gr... OMIM:300590
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, At... OMIM:620292
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Head-banging, Delayed eruption of permanent teeth, Narrow mouth, ... OMIM:619356
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Long nose, Self-biting, Abnormal repetitive mannerisms, Hyperactivity, Dep... OMIM:300912
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Short no... ORPHA:329178
Craniosynostosis 3
Dental malocclusion OMIM:615314
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Tarsal synostosis, Hydrocephalus, Brachycephaly,... ORPHA:53271
Fried Syndrome
Hydrocephalus, Thickened calvaria, Scoliosis ORPHA:85335
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Congesti... ORPHA:49827
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Persistence of primary teeth, Dental malocclusion, Wide nasal bridge, Oligodontia,... OMIM:618727
Band Heterotopia
Hydrocephalus, Plagiocephaly, Lateral ventricle dilatation, Macrocephaly, Ventriculomegaly OMIM:600348
Craniotelencephalic Dysplasia
Frontal bossing, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele ORPHA:1528
Temple Syndrome
Few cafe-au-lait spots, Frontal bossing, Relative macrocephaly, Short stature, Postnatal growth r... ORPHA:254516
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Short attention span, Diabetes mellitus, Broad nasal tip, Overweight, Repe... ORPHA:391372
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Frontofacionasal Dysplasia
Encephalocele, Short stature, Facial cleft ORPHA:1791
Acrofacial Dysostosis, Catania Type
Short stature, Facial cleft, Webbed neck, Intrauterine growth retardation, Spina bifida occulta ORPHA:1786
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Flat occiput, Delayed closure of the anterior fontanelle, Microcephaly... OMIM:618736
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Acromelic Frontonasal Dysostosis
Encephalocele, Midline facial cleft OMIM:603671
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Short nose, High palate, Micrognathia ORPHA:2598
Osteogenesis Imperfecta, Type Iii
Frontal bossing, Wormian bones, Protrusio acetabuli, Micrognathia, Kyphosis, Wide anterior fontan... OMIM:259420
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Cachexia, Abnormal soft pa... ORPHA:884
Late-Onset Familial Hypoaldosteronism
Fever, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circ... ORPHA:556037
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ... OMIM:601224
Harrod Syndrome
Long nose, Dental malocclusion, High palate, Narrow mouth, Failure to thrive ORPHA:2115
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Anteverted nares, Short stature, Ataxia, Decreased response to growth hormone stim... OMIM:601853
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide ... ORPHA:85321
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... OMIM:613443
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... ORPHA:231144
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Hyperactivity, Impulsivity, Aggressive behavior, Pachygyria, Simplified gyral ... OMIM:604317
Smith-Magenis Syndrome
Mandibular prognathia, Micrognathia, Hypothyroidism, Abnormal repetitive mannerisms, Depressed na... ORPHA:819
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tented upper lip vermilion, Abnormal repetitive mannerisms, Short philtrum ORPHA:85277
Leptin Receptor Deficiency
Diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Decreased response to growth ho... OMIM:614963
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Frontal bossing, Sacral dimple, Micrognathia, Kyphosis, Wide anterior fontanel, Macrocephaly, Umb... OMIM:618272
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Hypothermia OMIM:614654
Joubert Syndrome 15
Exencephaly OMIM:614464
Winchester Syndrome
Arthropathy, Kyphosis, Carpal osteolysis, Hirsutism OMIM:277950
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Aggressive behavior, Micrognat... OMIM:617061
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture, Small nail, Microcephaly OMIM:619470
Cole-Carpenter Syndrome
Delayed eruption of teeth, Frontal bossing, Turricephaly, Communicating hydrocephalus, Short stat... ORPHA:2050
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia OMIM:166990
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Microcep... OMIM:614886
Acromicric Dysplasia
Anteverted nares, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short nose, Long philtrum ORPHA:969
Perlman Syndrome
Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal uppe... ORPHA:2849
Thanatophoric Dysplasia
Frontal bossing, Cloverleaf skull, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus,... ORPHA:2655
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... ORPHA:90673
Crouzon Syndrome
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephal... ORPHA:207
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Abnormal liver parenchyma morphology, Neoplasm of the lung, Pheo... ORPHA:1332
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, Anterior open... OMIM:617877
Craniodigital-Intellectual Disability Syndrome
Short stature, Thick hair, Abnormal hair pattern, Micrognathia, Brachycephaly, Long eyelashes, Sp... ORPHA:1514
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Failure to thrive, Hypothermia OMIM:245400
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Long nose, Carious teeth, Thin lower lip vermilion, Velopharyngeal ... ORPHA:363444
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closure of the anter... OMIM:130060
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Platyspondyly, Hypopigmentation of t... ORPHA:2786
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Hyperactivity, Diabetes mellitus, Depressed nasal bridge, Anteverted nares... OMIM:614613
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Downturned corners of mouth, Thin vermilion bord... ORPHA:1895
17P13.3 Microduplication Syndrome
Wide nose, High palate, Short nose, Narrow mouth ORPHA:217385
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Depressed nasal bridge, Dental malocclusion, High palate, Hypodontia, ... OMIM:612350
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, T... OMIM:249620
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Peho-Like Syndrome
Short nose, Retrognathia, Open mouth OMIM:617507
Meningococcal Meningitis
Fever, Hypothermia, Anorexia, Paresthesia, Lethargy ORPHA:33475
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Hypoplasia of the maxilla, Hydrocephalus, Hip dislocation, Brachycephaly, Abnormal... OMIM:109120
Phelan-Mcdermid Syndrome
Palpebral edema, Aggressive behavior, Micrognathia, Bulbous nose, Tongue thrusting, Dental malocc... OMIM:606232
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556030
1Q44 Microdeletion Syndrome
Frontal bossing, Prominent metopic ridge, Short stature, Micrognathia, Microcephaly, Synophrys, H... ORPHA:238769
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri... ORPHA:3079
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... OMIM:615716
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi... ORPHA:763
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Palpebral edema, Bulbo... ORPHA:261144
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Severe short stature, Micrognathia, Carious teeth, Kyphosis, Microcephaly... ORPHA:2617
Thanatophoric Dysplasia Type 2
Encephalocele, Frontal bossing, Cloverleaf skull, Short stature, Kyphosis, Hydrocephalus, Platysp... ORPHA:93274
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short philtrum, Short nose, Abnormal repetitive mannerisms, Open mouth ORPHA:228384
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Sarcoma ORPHA:66661
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Hypopituitarism, Short stature, Depressed nasal brid... OMIM:613038
Peripheral Cone Dystrophy
Pallor OMIM:609021
Primary Erythromelalgia
Hypothermia ORPHA:90026
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge ORPHA:2835
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Short stature, Microcephaly, Kyphosis, Hip dislocation, Scoliosis OMIM:616756
Momo Syndrome
Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus... ORPHA:2563
Adenylosuccinase Deficiency
Hyperactivity, Anteverted nares, Aggressive behavior, Inability to walk, Gait ataxia, Growth dela... OMIM:103050
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Thin vermilion border, Narrow mouth ORPHA:2370
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Frontal bossing, Kyphosis, Hydrocephalus, Shoulder dislocation, Scoliosis, Umbilical hernia ORPHA:2181
Chromosome 16Q22 Deletion Syndrome
Frontal bossing, Prominent metopic ridge, Highly arched eyebrow, Micrognathia, Postnatal growth r... OMIM:614541
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Frontal bossing, Carious teeth, Hydrocephalus, Hemiverte... ORPHA:377
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Microcephaly, Scoliosis OMIM:617404
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Hypothermia, Limb hypertonia OMIM:614498
Acrofacial Dysostosis, Weyers Type
Advanced eruption of teeth, Mild short stature, Facial cleft ORPHA:952
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Abnormal intervertebral disk morphology, Abnormal fingernail morphology, Short... ORPHA:2701
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Muenke Syndrome
Malar flattening, High palate, Attention deficit hyperactivity disorder, Dental malocclusion OMIM:602849
Pseudodiastrophic Dysplasia
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Phalangeal dislocation, ... OMIM:264180
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft, Abnormal heart morphology OMIM:239800
Seckel Syndrome 1
Hyperactivity, Dental crowding, Selective tooth agenesis, Prominent nose, Micrognathia, Dental ma... OMIM:210600
Borjeson-Forssman-Lehmann Syndrome
Short stature, Microcephaly, Kyphosis, Scoliosis, Delayed puberty, Thickened calvaria, Scheuerman... OMIM:301900
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Broad nasal tip, High palate, Lon... OMIM:613544
Thanatophoric Dysplasia Type 1
Frontal bossing, Cloverleaf skull, Abnormal sacroiliac joint morphology, Wide anterior fontanel, ... ORPHA:1860
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un... OMIM:618493
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Depressed nasal bridge, Aggr... OMIM:618430
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Aggressive behavior, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of ... OMIM:620250
Zimmermann-Laband Syndrome
Wide nose, Micrognathia, Bulbous nose, Supernumerary tooth, Gingival fibromatosis, Cleft palate, ... ORPHA:3473
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Grow... OMIM:610600
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis, Hydrocephalus, Pallor ORPHA:163596
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Short Syndrome
Delayed eruption of teeth, Small for gestational age, Micrognathia, Underdeveloped nasal alae, De... OMIM:269880
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose, Obesity OMIM:611936
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Broad eyebrow OMIM:618302
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Short stature, Ataxia, Aggressive behavior, Micrognathia, Irritability, S... OMIM:619833
Edinburgh Malformation Syndrome
Frontal hirsutism, Hydrocephalus OMIM:129850
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Restlessness, Hyperactivity, Depressed nasal bridge, Short stature, Ataxia... ORPHA:369891
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Short nose, Abnormal palate morphology, Micrognathia ORPHA:1495
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Wi... OMIM:613604
Congenital Hydrocephalus
Frontal bossing, Hydrocephalus, Colpocephaly, Macrocephaly, Ventriculomegaly ORPHA:2185
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Abnormal dental morpholo... ORPHA:1716
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Protruding tongue DECIPHER:52
Miller-Dieker Syndrome
Abnormal upper lip morphology, Short nose, Anteverted nares ORPHA:531
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Lamb-Shaffer Syndrome
Hyperactivity, Mild postnatal growth retardation, Ataxia, Broad nasal tip, Micrognathia, Abnormal... ORPHA:530983
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Prominent metopic ridge, Kyphosis, Synophrys, Scoliosis, Hypertrichosis ORPHA:85317
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Short attention span, Short stature, Ataxia, Prominent nose, Aggressive be... OMIM:156200
Intellectual Developmental Disorder, Autosomal Dominant 26
Short stature, Highly arched eyebrow, Micrognathia, Microcephaly, Kyphosis, Brachycephaly, Umbili... OMIM:615834
16P12.1P12.3 Triplication Syndrome
Nail-biting, Hyperactivity, Failure to thrive, High, narrow palate, Bulbous nose, Wide mouth, Thi... ORPHA:485405
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Turricephaly, Severe short stature, Alopecia, Abnormal dental enamel morphology, Microcephaly, Ky... ORPHA:1005
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Relative macrocephaly, Sparse scalp hair, Short stature, Sagittal craniosynostosis, Micrognathia,... ORPHA:459061
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Hydrocephalus, Brachycephaly, Plagiocephaly, Dolichocephaly, Intrauterin... ORPHA:272
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... ORPHA:2635
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Camptodactyly of finger, Micrognathia, Kyphosis, Long eyelashes, Scoliosis, Intrau... ORPHA:48431
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Frontal bossing, Dilated fourth ventricle, Hydrocephalus, Macrocephaly, Dolich... OMIM:220220
Hallermann-Streiff Syndrome
Natal tooth, Hyperactivity, Small for gestational age, Selective tooth agenesis, Prominent nasal ... OMIM:234100
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... OMIM:602347
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Low anterior hairline, Absent toenail, Long eyelashes, Small nai... OMIM:618658
Optic Atrophy 1
Pallor OMIM:165500
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypothermia OMIM:616501
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Obesity, Short columella, Thin vermilion ... ORPHA:171839
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Craniosynostosis, Hydrocephalus, Macrocephaly, Umbilical hernia ORPHA:380
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft OMIM:600251
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Thick vermilion border, Long philtrum ORPHA:833
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Micrognathia, Dysphagia OMIM:617258
Bresek Syndrome
Alopecia, Microcephaly, Hydrocephalus, Hemivertebrae, Growth delay, Plagiocephaly, Scoliosis, Int... ORPHA:85284
Kabuki Syndrome 2
Natal tooth, Micrognathia, Broad nasal tip, Lower lip pit, Dental malocclusion, Cleft palate, Dep... OMIM:300867
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Microcephaly, Abnormal hair whorl, Hydrocephalus, Plagiocephaly, Scolios... OMIM:616362
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor OMIM:500007
Albers-Schönberg Osteopetrosis
Joint dislocation, Frontal bossing, Short stature, Carious teeth, Mandibular osteomyelitis, Hydro... ORPHA:53
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Hypothermia, Flexion contracture, Impaired proprioception, Impaired distal vibration sens... ORPHA:99027
Alexander Disease
Diabetes mellitus, Ataxia, Facial palsy, Hypothermia, Short neck, Precocious puberty, Chorea, Sel... ORPHA:58
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Micrognathia, Kyphosis, Hip dislocation, Lateral ventr... OMIM:618291
Supernumerary Nostril
Facial cleft ORPHA:141096
Pterygium Colli, Isolated
Short nose OMIM:177990
Larsen-Like Syndrome
Malar flattening, Absent nasal bridge, Cleft palate, Dental malocclusion OMIM:608545
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Broad nasal tip, Micrognathia, Obesity, Wide mouth... ORPHA:293948
Gm1-Gangliosidosis, Type Iii
Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplas... OMIM:230650
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Dental malocclusion, Wide nasal bridge OMIM:615560
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Intrauterine ... OMIM:615583
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... OMIM:190350
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Severe short stature, Enlarged joints, Thoracolumbar scoliosis, Kyphosis, Knee f... OMIM:313420
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Decreased serum insulin-like growth factor 1, Short stature,... OMIM:608747
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose, Polyphagia OMIM:618774
Constricting Bands, Congenital
Encephalocele, Ectopia cordis, Facial cleft OMIM:217100
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Bradykinesia, Progressive cerebella... ORPHA:248111
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Small for gestational age, Hypothermia, Increased circulating fr... ORPHA:26793
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Broad-based gait, Anteverted nares, Diabetes mellitus, Proportionate short stature, Sm... ORPHA:391408
Harel-Yoon Syndrome
Mandibular prognathia, Ataxia, Micrognathia, Inability to walk, Dystonia, Short nose OMIM:617183
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Short nose, Retrognathia, Dentinogenesis imper... ORPHA:166272
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Kyphoscoliosis, Macrocephaly OMIM:300886
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephal... ORPHA:93262
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Macroglossi... OMIM:242860
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Periventricular Nodular Heterotopia 7
Microretrognathia, Anteverted nares, Dental crowding, Micrognathia, Pierre-Robin sequence, Cleft ... OMIM:617201
Acalvaria
Holoprosencephaly, Hydrocephalus, Calvarial skull defect, Spina bifida ORPHA:945
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Intermediate Osteopetrosis
Abnormality of the dentition, Abnormal dental morphology, Osteosclerosis of the base of the skull... ORPHA:210110
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Hypothermia OMIM:309400
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly ORPHA:26
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Hemivertebrae, Abnormal ... ORPHA:2180
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Absent pubic hair, Male hypogonadism, Decreased circulating... ORPHA:90793
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Decreased calvarial ossification, Disproportionate short-limb short stat... OMIM:259440
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Short stature, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Brac... OMIM:218350
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Bifid uvula, Anteverted nares, Sup... OMIM:211380
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab... ORPHA:3099
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Encephalocele, Abnormal fingernail morphology, Short stature, Micrognathia... ORPHA:1908
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Thin upper lip vermilion, Micrognathia, Wide mouth, Short nose, Smooth philtrum OMIM:615419
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Short stature, Secondary microcephaly, Macrocephaly OMIM:618174
Au-Kline Syndrome
Failure to thrive, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nas... OMIM:616580
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Open bite, Micrognathia, ... OMIM:115150
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Short attention span, Hyperactivity, Short stature, Small for gestatio... ORPHA:73272
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... ORPHA:364577
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Micrognathia, Retrognathia, Dysphagia, Short nose, Thick nasal alae ORPHA:163961
Acrocephalopolydactyly
Short nose, Depressed nasal ridge ORPHA:221054
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Aggressive behavior, Micrognathia, Abnormality of the dentition, Tremor, Eruptio... ORPHA:476126
Oculomaxillofacial Dysostosis
Short stature, Facial cleft ORPHA:1794
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Camptodactyly of finger, Carious teeth, Kyphosis, Coarse hair, Joint... ORPHA:1883
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... OMIM:619797
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Frontal bossing, Short stature, Scoliosis ORPHA:276630
Williams-Beuren Region Duplication Syndrome
Short stature, Micrognathia, Hydrocephalus, Brachycephaly, Long eyelashes, Horizontal eyebrow, Ma... OMIM:609757
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature OMIM:618453
X-Linked Mandibulofacial Dysostosis
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology ORPHA:1131
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... OMIM:614069
Robinow Syndrome
Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Micrognathia, Persist... ORPHA:97360
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short stature, Micrognathia, Opisthotonus, Irritability, Short nose, Failure to thrive OMIM:615851
Intellectual Disability-Strabismus Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Short statur... ORPHA:363528
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Fasciitis, Pain insensitivity, Somatic sensory dysfunction, Hyperactivity, Impulsivi... ORPHA:642
Anauxetic Dysplasia 3
Sparse scalp hair, Severe short stature, Thoracolumbar kyphoscoliosis, Hip subluxation, Wide ante... OMIM:618853
Choreoacanthocytosis
Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vib... ORPHA:2388
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flattening, Short nos... OMIM:616420
Trigonocephaly 1
High, narrow palate, Short nose, Wide nasal bridge, Long philtrum OMIM:190440
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short stature, Microcephaly, Micrognathia, Hydrocephalus, Hip dislocatio... OMIM:241800
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anon... OMIM:616455
Oculocerebrocutaneous Syndrome
Hydrocephalus, Facial cleft ORPHA:1647
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Small for gestational age, Stereotypical hand wringing ORPHA:289266
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Wide anterior ... OMIM:616482
Robinow Syndrome, Autosomal Dominant 3
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft lip, Dental malocclusion, Wide nasa... OMIM:616894
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dystonia, Bulbous nose, Hig... OMIM:614105
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Intermittent hypothermia, Tongue thrusting, Choreoathetosis, Athetosis, Lethargy, Te... OMIM:608643
Sclerosteosis 1
Mandibular prognathia, Depressed nasal bridge, Dental malocclusion, Wide nasal bridge, Facial pal... OMIM:269500
Temple Syndrome
Relative macrocephaly, Frontal bossing, Short stature, Micrognathia, Hydrocephalus, Scoliosis, In... OMIM:616222
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Bulbous nose, Flared nostrils, Dental malocclusion, Wide nasal bridge, ... OMIM:616737
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Hamamy Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Dental malocclusion, Wide nasal bridge,... OMIM:611174
Weismann-Netter Syndrome
Severe short stature, Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis... OMIM:112350
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Rhizomelia, Short stature, Hydrocephalus, Platyspondyly, Macrocephaly, Intrauter... OMIM:300863
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Short stature, Progressive microcephaly OMIM:620007
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Highly arched eyebrow, Micrognathia, Microcephaly, Kyphosis, Joint contracture of ... ORPHA:352490
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Wide nose, Depressed nasal ridge, Short nose ORPHA:2831
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Underdeveloped nas... OMIM:209885
Hall-Riggs Syndrome
Microcephaly, Kyphosis, Hypoplasia of the primary teeth, Irregular vertebral endplates, Platyspon... OMIM:234250
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Self-injurious behavior, Short nose... OMIM:618828
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Micrognathia, Long philtrum, Malar flattening, Short nose ORPHA:93328
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Ataxia, Reduced intraab... ORPHA:363400
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose OMIM:302950
Bethlem Myopathy 2
Kyphosis, Hip dislocation, Scoliosis OMIM:616471
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Macrocephaly, Dolichocephaly OMIM:618512
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum ORPHA:90653
Tetrasomy 5P
Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Short neck, Hydrocephalus, De... ORPHA:3309
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Hypothermia, Aggressive behavior, Unsteady gait, Flexion contracture, Ra... ORPHA:17
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Abnormal denta... ORPHA:816
Non-Distal Duplication 13Q
Micrognathia, Abnormality of the dentition, Thin vermilion border, High palate, Everted lower lip... ORPHA:1702
Crouzon Syndrome
Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... OMIM:123500
Craniosynostosis, Herrmann-Opitz Type
Short stature, Micrognathia, Cognitive impairment, Intrauterine growth retardation, Short nose, M... ORPHA:2145
Lateral Meningocele Syndrome
Vertebral fusion, Wormian bones, Short stature, Short neck, Micrognathia, Kyphosis, Hydrocephalus... OMIM:130720
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Kyphosis, Brachycephaly, Plagiocephaly, Dolichocephaly, Ventriculomegaly OMIM:615433
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Short neck, Micr... ORPHA:2311
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Micrognathia, Dental malocclusion, Wide nasal bridge, Alveolar ridge overgrowth... ORPHA:444072
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Micrognathia, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Brachycep... OMIM:615761
Evans Syndrome
Epistaxis, Syncope, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Achondrogenesis
Long philtrum, Short nose, Anteverted nares, Micrognathia ORPHA:932
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Short nose, High palate, Micrognathia OMIM:615042
Codas Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Anteverted ... ORPHA:1458
Tetrasomy 18P
Narrow mouth, Short nose, Thin vermilion border, Long philtrum ORPHA:3307
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Ataxia, Anorexia, Hypothermia, Weight loss, Lethargy ORPHA:20
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Micrognathia, Inability to walk, Dysphagia, Short nose, Abno... OMIM:617802
Diastrophic Dysplasia
Joint dislocation, Camptodactyly of finger, Micrognathia, Elbow dislocation, Kyphosis, Abnormal f... ORPHA:628
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... OMIM:101800
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microcephaly, Hydrocephalus, Intrauterine growth retardation... ORPHA:858
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Collectionism, Hyperactivity, Short lingual frenulum, Aggressive behavi... ORPHA:96121
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Frontal bossing, Thoracic scoliosis, Kyphosis, Hydrocephalus, Knee flexion contracture, Macroceph... OMIM:603387
Ritscher-Schinzel Syndrome 1
Micrognathia, Hydrocephalus, Hemivertebrae, Brachycephaly, Low posterior hairline, Prominent occi... OMIM:220210
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature OMIM:618160
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Intrauterine growth retardation, P... OMIM:610333
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Hyperthyroidism, Diastasis recti, Decreased response to growth hormone s... ORPHA:488632
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Waardenburg Syndrome Type 1
Mandibular prognathia, Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Ab... ORPHA:894
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Obesity, Inappropriate laughte... ORPHA:411515
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Chromosome 19Q13.11 Deletion Syndrome, Distal
Failure to thrive, Anteverted nares, Micrognathia, Underdeveloped nasal alae, Carious teeth, Wide... OMIM:613026
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Impulsivity, Aggressive behavior, Micrognathia, Dental malocclusion, Wide nasal bridge, Localized... ORPHA:73223
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Short stature, Abnormal dental enamel morphology, Hyperlordo... ORPHA:1798
Trisomy 17P
Prominent metopic ridge, Short stature, Short neck, Micrognathia, Microcephaly, Hydrocephalus, Lo... ORPHA:261290
Alexander Disease
Hydrocephalus, Increased CSF protein concentration, Progressive macrocephaly OMIM:203450
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Houge-Janssens Syndrome 1
Congenital hip dislocation, Hydrocephalus, Scoliosis, Macrocephaly, Intrauterine growth retardati... OMIM:616355
Noonan Syndrome 4
Depressed nasal bridge, Large for gestational age, Dental malocclusion, Wide mouth, Thick vermili... OMIM:610733
3C Syndrome
Frontal bossing, Ventriculomegaly, Short stature, Short neck, Postnatal growth retardation, Kypho... ORPHA:7
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Ataxia, Hypothermia, Chorea, Ragged-red muscle fibers, Gait ataxia, Dysphagia, Failure to ... ORPHA:255210
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... OMIM:601390
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior ORPHA:382
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Craniosynostosis, Hyd... ORPHA:2409
Hypomelanosis Of Ito
Alopecia, Microcephaly, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Scoliosis, ... OMIM:300337
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Short stature, Abnormal dental enamel morphology, Elbow ... ORPHA:2916
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Micrognathia, Unsteady gait, Impaired social interactions, Short nose OMIM:256600
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Severe short stature, Micrognathia, Short neck, Hydrocephalus, Advanced ossificati... OMIM:224400
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... OMIM:218700
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Failure to thrive, Anteverted nares, Cleft upper lip, Wide nasal bridge... OMIM:243310
Bainbridge-Ropers Syndrome
Failure to thrive, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdevelop... OMIM:615485
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Wide nasal bridge, Long philtrum, Short nose, S... ORPHA:401935
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Ataxia, Inability to walk, Dysmetria, Dystonia, Short nose OMIM:618087
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Marshall-Smith Syndrome
Failure to thrive, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Sho... ORPHA:561
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Wormian bones, Kyphoscoliosis, Highly arched eyebrow, Microcephaly, Brachy... OMIM:618644
Opitz-Kaveggia Syndrome
Relative macrocephaly, Frontal bossing, Sacral dimple, Lumbar hyperlordosis, Short stature, Delay... OMIM:305450
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Ventriculomegaly, Microcephaly ORPHA:319199
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... OMIM:615866
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Ck Syndrome
Micrognathia, Hyperlordosis, Kyphosis, Microcephaly, Scoliosis, Retrognathia OMIM:300831
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... ORPHA:363417
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Thick eyebrow,... OMIM:253220
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Clark-Baraitser syndrome
Frontal bossing, Genu recurvatum, Kyphosis, Genu valgum, Scoliosis, Macrocephaly, Maxillary later... OMIM:300602
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... ORPHA:950
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Highly arched eyebrow OMIM:609384
Breath-Holding Spells
Pallor OMIM:607578
Jaberi-Elahi Syndrome
Broad-based gait, Depressed nasal bridge, Tremor, Inability to walk, Dysmetria, Gait ataxia, Chor... OMIM:617988
Congenital Arthrogryposis With Anterior Horn Cell Disease
Micrognathia, Short neck, Kyphosis, Microcephaly, Scoliosis, Retrognathia OMIM:611890
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Short neck, Pallor, Atrial septal defect, Intrauterine ... OMIM:609053
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Palpebral edema, Periorbita... ORPHA:363659
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Synophrys, Broad na... OMIM:300280
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... OMIM:305620
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Aggressive behavior, Bulbous nose, Absent cupid's bow, A... ORPHA:284169
Timothy Syndrome
Hypothyroidism, Hypothermia OMIM:601005
Hemoglobin D Disease
Pallor ORPHA:90039
4Q21 Microdeletion Syndrome
Frontal bossing, Short neck, Kyphosis, Synophrys, Growth delay, Long eyelashes, Scoliosis, Intrau... ORPHA:238750
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Dislocated radial head, Ventriculomegaly, Microcephaly OMIM:304100
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Restlessness, Irritability, Short nose, Failure to thrive ORPHA:544503
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Aarskog-Scott Syndrome
Decreased serum testosterone concentration, Short stature, Anteverted nares, Elevated circulating... OMIM:305400
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia... OMIM:615546
Adams-Oliver Syndrome 2
Alopecia, Micrognathia, Microcephaly, Hydrocephalus, Low anterior hairline, Lateral ventricle dil... OMIM:614219
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... ORPHA:500180
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Short nose ORPHA:1914
Cdkl5-Deficiency Disorder
Growth delay, Kyphosis, Synophrys, Scoliosis ORPHA:505652
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Alexander Disease Type I
Hydrocephalus, Progressive macrocephaly, Scoliosis ORPHA:363717
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Micrognathia, Microcephaly, Hydrocephalus, Hydranencephaly, Intrauterine growth... OMIM:225790
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,... OMIM:619179
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Short stature OMIM:618392
Thanatophoric Dysplasia, Type I
Frontal bossing, Cloverleaf skull, Short neck, Hydrocephalus, Macrocephaly, Platyspondyly, Dispro... OMIM:187600
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Anteverted nares, Inability to walk, Wide nasal bridge, Gait ataxia, Attenti... OMIM:619383
Achondrogenesis Type 1B
Long philtrum, Short nose, Anteverted nares, Micrognathia ORPHA:93298
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Short neck, Hypoplastic toenails, Hydrocephalus, Skull asymmetry, Secondary microcephaly, Umbilic... OMIM:612938
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Hyperactivity, Anteverted nares, Short stature, Impaired pain sensation, Long ... ORPHA:261211
Even-Plus Syndrome
Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Short nose OMIM:616854
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Tremor, Wide nasal bridge, Limb tremor, High palate, Short nose OMIM:218000
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Microcephaly, Synophrys, Piebaldism, Hy... ORPHA:2884
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Macrocephaly OMIM:615191
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Agitation, Prominent nasal bridge, Short nose OMIM:613870
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Failure t... OMIM:616430
2,4-Dienoyl-Coa Reductase Deficiency
Microcephaly, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentrat... OMIM:616034
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Trismus, Deep philtrum, Dental malocclusion, Narrow pal... OMIM:227330
Faciocardiomelic Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Large for gestational age, Dental maloccl... OMIM:612731
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic ... ORPHA:2839
Progeria-Short Stature-Pigmented Nevi Syndrome
Small for gestational age, Selective tooth agenesis, Micrognathia, Dental malocclusion, Hypodonti... ORPHA:2959
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Depressed nasal bridge, Abnormal dental enamel morphology, Prominent nose,... ORPHA:439822
Smith-Mccort Dysplasia 1
Short stature, Short neck, Microcephaly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxi... OMIM:607326
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Short nose OMIM:614078
Martin-Probst Syndrome
Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Wide mouth, Mala... OMIM:300519
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Gait ataxia, Delayed puberty, Short nose, Spastic gait ORPHA:496790
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short... OMIM:253000
Griscelli Syndrome
Encephalocele, Abnormal eyebrow morphology, Short stature, Abnormal eyelash morphology, Silver-gr... ORPHA:381
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Wide anterior fontanel, Hydrocephalus, Humeroradial synostosis, Brachycephaly, L... OMIM:207410
Fountain Syndrome
Craniofacial hyperostosis, Short stature, Spina bifida, Kyphosis, Synophrys, Abnormal form of the... ORPHA:3219
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus, Facial cleft ORPHA:861
Sandhoff Disease
Kyphosis, Macrocephaly ORPHA:796
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Aggressive behavior, Abnormality of the dentition, Orofa... ORPHA:65286
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,... OMIM:145420
Fibrochondrogenesis 2
Malar flattening, Short nose, Anteverted nares, Micrognathia OMIM:614524
Macrocephaly-Intellectual Disability-Autism Syndrome
Short nose, Depressed nasal bridge, Attention deficit hyperactivity disorder ORPHA:210548
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Abnormality of retinal pigmentation, Severe short stature, Short statu... OMIM:309900
Bruck Syndrome 1
Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow f... OMIM:259450
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Alopecia totalis, Hypothermia OMIM:618775
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Frontal bossing, Short stature, Slow-growing hair, Micrognathia, Short nec... ORPHA:3082
Fetal Akinesia Deformation Sequence 4
Kyphosis, Retrognathia, Micrognathia, Short neck OMIM:618393
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Rhabdomyolysis, Hypothermia ORPHA:159
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose OMIM:618437
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Dental malocclus... OMIM:618975
Coffin-Lowry Syndrome
Mandibular prognathia, Wide nose, Decreased body weight, Anteverted nares, Thick lower lip vermil... OMIM:303600
Achondrogenesis Type 1A
Long philtrum, Short nose, Anteverted nares, Micrognathia ORPHA:93299
Shprintzen-Goldberg Craniosynostosis Syndrome
Frontal bossing, Genu recurvatum, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Wide... OMIM:182212
Cutis Laxa, Autosomal Recessive, Type Iib
Frontal bossing, Congenital hip dislocation, Microcephaly, Hydrocephalus, Scoliosis, Wormian bone... OMIM:612940
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa... OMIM:300373
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Wide mouth, Long philtrum, Short nose, Failure to thrive OMIM:608776
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Anosmia, Dental malocclusion, Cleft palat... OMIM:603457
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Short stature, Kyphoscoliosis, Hip subluxation, Kyphosis, Radial head subluxation, Multiple joint... ORPHA:93360
Diabetic Embryopathy
Frontal bossing, Micrognathia, Microcephaly, Hydrocephalus, Abnormal sacrum morphology, Spinal dy... ORPHA:1926
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Depressed nasal bridge OMIM:616910
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Sacral dimple, Flat occiput, Brachycephaly, Exencephaly, Abnormal toenail morpholo... ORPHA:2211
Tenorio Syndrome
Mandibular prognathia, Ventriculomegaly, Delayed cranial suture closure, Hydrocephalus, Scoliosis... OMIM:616260
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxilla, Microcepha... OMIM:620157
Monosomy 22Q13.3
Hyperactivity, Dental crowding, Palpebral edema, Hair-pulling, Bulbous nose, Dental malocclusion,... ORPHA:48652
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi... OMIM:619005
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Delayed puberty ORPHA:141333
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Abnormality of... ORPHA:560
Metatropic Dysplasia
Relatively short spine, Severe short stature, Enlarged joints, Kyphoscoliosis, Hypoplasia of the ... OMIM:156530
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Absent eyebrow, Thin fingernail, Abnormal dental enamel morphology, Tarsal synos... ORPHA:85199
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Short stature, Hyperlordosis, Micrognathia, Hy... OMIM:616007
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Rhizomelia, Short stature, Micrognathia, Hydrocephalus, Platyspondyly, Intrauter... ORPHA:163966
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Distal Deletion 10Q
Short stature, Prominent nasal bridge, Ataxia, Prominent nose, Aggressive behavior, Postnatal gro... ORPHA:96148
Al-Raqad Syndrome
Thin upper lip vermilion, Short nose, Narrow mouth OMIM:616459
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Pallor, Heart murmur, Diffuse alveolar hemorrhage ORPHA:99931
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Fetal Trimethadione Syndrome
High palate, Short nose, Depressed nasal bridge, Micrognathia ORPHA:1913
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly, Kyphosis, Microcephaly, Micrognathia ORPHA:77300
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Cleft soft palate, Micrognathia, Broad nasal tip, Abnormality of the dentition,... OMIM:618529
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thin vermilion border, Short nose OMIM:610015
Trisomy 12P
Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted lower lip ver... ORPHA:1699
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Mandibular prognathia, Kyphosis, Synophrys, Scoliosis, Hirsutism OMIM:300861
Cousin Syndrome
Frontal bossing, Rhizomelia, Dislocation of the femoral head, Short neck, Micrognathia, Hydroceph... OMIM:260660
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Akinesia, Progressive neurologic deterioration, Microgn... OMIM:608013
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Short stature, Rhizomelia, Decrea... ORPHA:319182
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel... ORPHA:1946
Microcephaly-Capillary Malformation Syndrome
Wide nose, Small for gestational age, Hypoplasia of the maxilla, Cleft palate, Short nose, Failur... OMIM:614261
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Short stature, Short neck, Microcephaly, Kyphosis, Hip disloc... OMIM:301041
Turnpenny-Fry Syndrome
Mandibular prognathia, Thin upper lip vermilion, Torticollis, Failure to thrive, Dental crowding,... OMIM:618371
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Wide nose, Anteverted nares, Palpebral edema, Ataxia, Aggressive behavior, Bulbous nose, Unsteady... ORPHA:314647
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus, Secondary microcephaly ORPHA:397951
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Impaire... ORPHA:293987
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, D... OMIM:166220
Prader-Willi Syndrome Due To Translocation
Prominent nose, Micrognathia, Downturned corners of mouth, High palate, Compulsive behaviors, Abn... ORPHA:177907
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Micrognathia ORPHA:2547
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Secondary microcephaly, Microcephaly OMIM:615599
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Micrognathia OMIM:614120
Pfeiffer Syndrome
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th... OMIM:101600
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... OMIM:613686
Cardiofaciocutaneous Syndrome
Brittle hair, Short neck, Biparietal narrowing, Sparse hair, Dystrophic fingernails, Short statur... ORPHA:1340
Intellectual Developmental Disorder, Autosomal Dominant 65
Turricephaly, Prominent metopic ridge, Micrognathia, Synophrys, Noncommunicating hydrocephalus, L... OMIM:619320
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect, Facial cleft ORPHA:268249
Meckel Syndrome, Type 8
Short nose, Depressed nasal ridge, Cleft palate, Cleft upper lip OMIM:613885
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Increased laxity of ankles, Hydrocephalus, Scoliosis ORPHA:99947
Myopathy, Centronuclear, X-Linked
High palate, Dental malocclusion OMIM:310400
Trisomy 9P
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Microcephaly, Brachycephaly, Impacted ... ORPHA:236
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Aggressive behavior, Carious teeth, Abn... ORPHA:353281
Congenital Muscular Dystrophy, Ullrich Type
Spinal rigidity, Micrognathia, Kyphosis, Short neck, Hip dislocation, Elbow flexion contracture, ... ORPHA:75840
Frontonasal Dysplasia 2
Encephalocele, Intrauterine growth retardation, Tessier number 13 facial cleft OMIM:613451
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tremor, Cari... ORPHA:96263
Dubowitz Syndrome
Delayed eruption of teeth, Sparse scalp hair, Sacral dimple, Short stature, Abnormal fingernail m... ORPHA:235
Shashi-Pena Syndrome
Highly arched eyebrow, Kyphosis, Synophrys, Hypertrichosis, Mild fetal ventriculomegaly, Long eye... OMIM:617190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental crowding, Micrognathia, Dental malocclusion, Thin vermilion border, Man... OMIM:614008
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Microgna... ORPHA:2789
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Dental crowding, Long nose, Carious teeth, Downturned corners of mouth, Thin ver... OMIM:617602
3M Syndrome
Delayed eruption of teeth, Frontal bossing, Congenital hip dislocation, Short stature, Abnormal d... ORPHA:2616
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Turricephaly, Highly arched eyebrow, Short neck, Spina bifida, Microcephaly, Synop... OMIM:613776
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology,... ORPHA:1295
Marden-Walker Syndrome
Short neck, Postnatal growth retardation, Kyphosis, Micrognathia, Wide anterior fontanel, Microce... OMIM:248700
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Narrow mouth, High palate, Long philtrum, Short nose OMIM:615539
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... OMIM:313400
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Short stature, Pallor OMIM:615631
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Underdeveloped nasal alae, Abnormality of the dentition, Oligodontia, ... ORPHA:2315
Achondroplasia
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Hydrocephalus, Macrocephaly, Lumbar kyphosis i... OMIM:100800
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... OMIM:614732
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... ORPHA:1020
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Hyperlordosis, Kyphosis, Knee flexion contracture, Scoliosis OMIM:615290
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Large for gestational age, Open mouth, Wide mou... OMIM:616638
Microlissencephaly-Micromelia Syndrome
Short nose, Failure to thrive, Palpebral edema, Long philtrum ORPHA:50810
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Malar flattening, Dental malocclusion, Micrognathia OMIM:608257
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-midline cleft lip, Cleft palate, Mi... ORPHA:1915
Menkes Disease
Hypopigmentation of hair, Inguinal hernia, Hypothermia, Chorea, Aplasia/Hypoplasia of the abdomin... ORPHA:565
Rubinstein-Taybi Syndrome 1
Dental crowding, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Hi... OMIM:180849
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia ORPHA:3386
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Prom... OMIM:618316
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Deep philtrum, Sh... OMIM:613320
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Growth delay, Cognitive impairme... ORPHA:2083
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Carious teeth, High palate, Narrow mouth, Malar flattening, Short nose, Failure... OMIM:219200
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Macrocephaly ORPHA:83473
Peho Syndrome
Short nose, Tented upper lip vermilion, Retrognathia, Open mouth OMIM:260565
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Microcephaly, Kyphosis, Low anterior hairline, Brachycephal... OMIM:619244
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Downturned corners of mouth... ORPHA:163649
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Cle... OMIM:239300
Schwartz-Jampel Syndrome
Pursed lips, Prominent nasal bridge, Cachexia, Micrognathia, Trismus, Supernumerary tooth, Dental... ORPHA:800
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Desbuquois Dysplasia 1
Waddling gait, Microretrognathia, Severe short stature, Depressed nasal bridge, Obesity, Growth d... OMIM:251450
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose, Failure to th... OMIM:170100
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Relative macrocephaly, Short stature, Microcephaly, Kyphosis, Hydrocephalus, Brachycephaly, Plagi... ORPHA:500055
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Exaggerated cupid's bow, Broad nasal tip, Underdeveloped nasal ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Exaggerated cupid's bow, Broad nasal tip, Underdeveloped nasal ... ORPHA:352665
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Pursed lips, Dental crowding, Small for gestational age, Underdeveloped na... OMIM:193700
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscol... OMIM:253200
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Wide nose, Prominent nasal bridge, Prominent nose, Dental malocclusion, Bifid uvula, High palate,... OMIM:601552
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Tetralogy of Fallot, Facial cleft ORPHA:306542
Cdags Syndrome
Frontal bossing, Sparse scalp hair, Sparse eyelashes, Sagittal craniosynostosis, Parietal foramin... OMIM:603116
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Scoliosis, Macrocephaly OMIM:300676
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,... OMIM:610829
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Micrognathia, Long philtrum, Short nose ORPHA:93329
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, E... ORPHA:261494
Emanuel Syndrome
Broad jaw, Sacral dimple, Ventriculomegaly, Congenital hip dislocation, Delayed eruption of prima... OMIM:609029
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms, Intention trem... OMIM:619475
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis, Dolichocephaly ORPHA:1548
Down Syndrome
Depressed nasal bridge, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilio... ORPHA:870
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Frontal bossing, Sacral dimple, Microretrognathia, Turricephaly, Microceph... OMIM:613603
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Pallor ORPHA:3226
Toluene Embryopathy
Micrognathia, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose, Smooth philtrum ORPHA:1920
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Microcephaly, Fused cervical ve... ORPHA:2522
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Craniosynostosis, Kyphosis, Hydrocephalus, Scaphocephaly, Melanocy... OMIM:616914
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Post-partum hemorrhage, Melena, Oral cavity bleeding, Pallor, Gingival bleeding ORPHA:98870
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short neck, Micrognathia, Multiple joint dislocation, Brachycephaly, Knee dislocation, Shoulder d... OMIM:245600
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of secondary sexual hair ORPHA:649929
Meckel Syndrome, Type 4
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retarda... OMIM:611134
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Progressive macrocephaly, Ventriculomegaly OMIM:602501
8P23.1 Microdeletion Syndrome
Short stature, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Obesity, Weight loss, Gro... ORPHA:251071
Fg Syndrome Type 1
Limited elbow extension and supination, Sacral dimple, Short stature, Craniosynostosis, Micrognat... ORPHA:93932
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Micrognathia, Hyperlordosis, Kyphosis, Ankle flexion contracture, Elbow flexion c... ORPHA:536516
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Ataxia, Short stature, Postnatal growth retardation, Impaired propr... ORPHA:96180
Bartsocas-Papas Syndrome 1
Short neck, Facial cleft, Intrauterine growth retardation, Dry skin, Patent foramen ovale OMIM:263650
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Hypoplastic... ORPHA:2437
Cadds
Short nose, Dystonia, Micrognathia ORPHA:369942
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion OMIM:608940
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Short nose, Failure to thrive OMIM:613735
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Aggressive ... OMIM:616202
Leishmaniasis
Abnormal bleeding, Pallor, Skin ulcer ORPHA:507
Trisomy 20P
Frontal bossing, Thick hair, Highly arched eyebrow, Short neck, Micrognathia, Kyphosis, Spina bif... ORPHA:261318
Osteogenesis Imperfecta, Type Xi
Short stature, Protrusio acetabuli, Kyphoscoliosis, Brachycephaly, Vertebral wedging, Biconcave v... OMIM:610968
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Micrognathia, Short neck, Synophrys, Hydrocephalus, Growth delay, Colpocephaly, Retrognathia, Ven... OMIM:620156
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Pettigrew Syndrome
Mandibular prognathia, Ventriculomegaly, Microcephaly, Aqueductal stenosis, Hydrocephalus, Scolio... OMIM:304340
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short nose OMIM:618961
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Kyphosis ORPHA:1875
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening,... ORPHA:79113
Cockayne Syndrome B
Mandibular prognathia, Slender nose, Small for gestational age, Prominent nasal bridge, Delayed e... OMIM:133540
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Bulbous nose, Flared nostrils, Dental maloc... ORPHA:487796
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Short stature, Inability to walk, Bulbous nose, Wide nasal bridge, Gait distur... OMIM:618571
Baralle-Macken Syndrome
Kyphosis, Cafe-au-lait spot, Hirsutism, Microcephaly OMIM:619255
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Long philtrum OMIM:300887
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Multiple joint dislocation, Large joint dislocations, Scoliosis, Acetabular dysplas... ORPHA:536467
Microphthalmia With Limb Anomalies
Failure to thrive, Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft... OMIM:206920
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Tented upper lip vermilion, Dystonia, Micrognathia, High palate, Lo... ORPHA:521426
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Frontal bossing, Ventriculomegaly, Abnormal dental enamel morphology, Supernumerary nipple, Hydro... ORPHA:1812
Triploidy
Micrognathia, Short neck, Hydrocephalus, Meningocele, Holoprosencephaly, Macrocephaly, Intrauteri... ORPHA:3376
Hajdu-Cheney Syndrome
Wide nose, Anteverted nares, Micrognathia, Absent frontal sinuses, Dental malocclusion, High pala... OMIM:102500
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Ethylene Glycol Poisoning
Addictive alcohol use, Ataxia, Facial palsy, Hypothermia ORPHA:31826
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Clef... ORPHA:261236
Bartsocas-Papas Syndrome
Median cleft lip, Micrognathia, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Short nose ORPHA:1234
Infantile Sialic Acid Storage Disease
Hydrocephalus, Fair hair, Hypopigmentation of the skin OMIM:269920
Wieacker-Wolff Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Microcephaly, Hip dislocation, ... OMIM:314580
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Ventriculomegaly, Sparse eyelashes, Craniosynostosis, Proboscis, ... OMIM:605627
Ruvalcaba Syndrome
Short stature, Microcephaly, Kyphosis, Scoliosis, Delayed puberty, Limited elbow extension OMIM:180870
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Micrognathia, Anisospondyly, Short neck, Hydrocephalus, Micr... ORPHA:1865
Localized Scleroderma
Abnormality of the dentition, Abnormality of the nose, Dental malocclusion, Abnormal facial skele... ORPHA:90289
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Short neck, Hydrocephalus, Brachycephaly, Pigmentary retinopathy, Frontal upswee... OMIM:612582
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Primary Myelofibrosis
Abnormal bleeding, Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Dravet Syndrome
Limited neck range of motion, Pallor ORPHA:33069
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Supernumerary nipple, Kyphosis, Hyd... OMIM:619951
Hurler Syndrome
Frontal bossing, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Cranial... OMIM:607014
Genitopalatocardiac Syndrome
Micrognathia, Microcephaly, Kyphosis, Hydrocephalus, Scoliosis, Intrauterine growth retardation ORPHA:2075
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Proteus-Like Syndrome
Mandibular prognathia, Communicating hydrocephalus, Genu recurvatum, Hydrocephalus, Macrocephaly,... ORPHA:2969
Mucopolysaccharidosis Type 4
Joint dislocation, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, K... ORPHA:582
Neuroleptic Malignant Syndrome
Fever, Hypothermia, Chorea, Rhabdomyolysis, Agitation, Dysphagia ORPHA:94093
Dermotrichic Syndrome
Short nose, Depressed nasal bridge ORPHA:99688
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Broad-based gait, Ataxia, Hyperactivity, Abnormal eating behavior, Tong... ORPHA:98794
Fraser Syndrome 1
Encephalocele, Hydrocephalus, Myelomeningocele, Facial cleft, Abnormal heart morphology OMIM:219000
Congenital Myopathy 22A, Classic
Frontal bossing, Thoracic scoliosis, Hip contracture, Micrognathia, Spinal rigidity, Kyphosis, Sy... OMIM:620351
Myofibrillar Myopathy 10
Mandibular prognathia, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexi... OMIM:619040
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypothermia OMIM:618329
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... ORPHA:94068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Hyperlordosis, Microcephaly, Kyphosis, Scoliosis, Ventriculomegaly OMIM:606612
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Dental... OMIM:101200
Ruvalcaba Syndrome
Microcephaly, Kyphosis, Abnormality of the elbow, Hypopigmented skin patches, Scoliosis, Delayed ... ORPHA:3121
Cockayne Syndrome A
Mandibular prognathia, Slender nose, Delayed eruption of primary teeth, Prominent nose, Carious t... OMIM:216400
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Sacral dimple, Ventriculomegaly, Congenital hip dislocation... ORPHA:96170
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Micrognathia, Recurrent upper respiratory tract infections, Severe pos... ORPHA:3078
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Frontal bossing, Craniosynostosis, Carious teeth, Hydroc... OMIM:259700
15Q24 Microdeletion Syndrome
Short stature, Microcephaly, Postnatal growth retardation, Kyphosis, Myelomeningocele, Scoliosis,... ORPHA:94065
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Anteverted nares, Small for gestational age, Micrognathia, Wide nasal bridge, Cleft palate, Unila... OMIM:616897
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal alae, Cleft... OMIM:164200
Hajdu-Cheney Syndrome
Short neck, Micrognathia, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsutism, S... ORPHA:955
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Abnormal occipital bone morphology, Hyperlordosis, Myelo... ORPHA:63259
15Q Overgrowth Syndrome
Mandibular prognathia, Microretrognathia, Turricephaly, Contracture of the proximal interphalange... ORPHA:314585
Femoral-Facial Syndrome
Thin upper lip vermilion, Micrognathia, Cleft palate, Orofacial cleft, Long philtrum, Short nose ORPHA:1988
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Difference Of Sex Development-Intellectual Disability Syndrome
Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Genu valgum, Spin... ORPHA:2983
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Psychomotor deterioration, Short stature, Anteverted nares, Broad nasal tip, Postnatal growth ret... ORPHA:357074
6P22 Microdeletion Syndrome
Hydrocephalus, Short neck ORPHA:251046
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ... ORPHA:457279
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Intrauterine growth retardation OMIM:618237
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Severe short stature, Abnormal acetabulum morpholog... ORPHA:93314
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypothermia OMIM:251880
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Tented upper lip vermilion, Micrognathia, High palate, Dysphagia, S... OMIM:617527
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Large for gestational age... OMIM:615398
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... ORPHA:90308
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Short stature, Absent pubertal growth spurt, Microcephaly, Kyphosis, Hip dislocation, Scoliosis ORPHA:464282
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocyt... OMIM:249400
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Hypoplasia o... ORPHA:87
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Anteverted nares, Velopharyngeal insufficiency, Submucous cleft hard pa... OMIM:614701
19P13.12 Microdeletion Syndrome
Craniosynostosis, Short neck, Microcephaly, Kyphosis, Synophrys, Brachycephaly, Scoliosis, Intrau... ORPHA:254346
Methylcobalamin Deficiency Type Cble
Microcephaly, Postnatal growth retardation, Hydrocephalus, Scoliosis, Intrauterine growth retarda... ORPHA:2169
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Large for gestational age, Obesity, High palate, Long philtrum, Short nose OMIM:605309
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Micrognathia, Patellar hypoplasia, Neonatal short-limb sho... OMIM:114290
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Failure to thrive, Ataxia, Hypothermia ORPHA:79282
Metachromatic Leukodystrophy, Adult Form
Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Memory impairmen... ORPHA:309271
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hematological neoplasm, Hepatocellular carcinoma,... ORPHA:101330
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Sparse axillary hair, Elevated circulating luteinizing hormone le... ORPHA:90796
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Synophrys, Thoracic kyphosis, Sparse hair, Microretrognathia, P... OMIM:602535
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:252605
Retinitis Pigmentosa 51
Pallor OMIM:613464
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Micrognathia ORPHA:1129
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Turricephaly, Cloverleaf skull, Craniosynostosis, Hydrocephalus, Melanocytic nevus, Hypoplasia of... ORPHA:1555
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Micrognathia, Hydrocephalus, Choroid plexus cyst, Vertebral wedging, Decreased calvarial ossifica... OMIM:617866
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Tetrasomy 15Q26
Microretrognathia, Kyphoscoliosis, Hydrocephalus, Intrauterine growth retardation, Dandy-Walker m... OMIM:614846
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... ORPHA:280200
Apparent Mineralocorticoid Excess
Short stature, Abnormality of circulating cortisol level, Intrauterine growth retardation, Polydi... ORPHA:320
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Short stature, Decreased response to growth hormone stimulation test... OMIM:213980
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Kypho... ORPHA:137834
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia... OMIM:223800
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Congestive heart failure, Pallor ORPHA:75564
Peho Syndrome
Anteverted nares, Palpebral edema, Open mouth, Gingival overgrowth, Abnormal upper lip morphology... ORPHA:2836
3Mc Syndrome 3
Growth delay, Short stature, Facial cleft OMIM:248340
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Hyperactivity, Aggressive behavior, Increased circulating ACTH level... ORPHA:43
Bruck Syndrome
Short stature, Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Pterygium ORPHA:2771
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Short neck, Micrognathia, Hydrocephalus, Abnormal form of... ORPHA:1834
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Relative macrocephaly, Short stature, Kyphosis, Delayed puberty, Ventricul... OMIM:300354
Holoprosencephaly 1
Short stature, Alobar holoprosencephaly, Facial cleft, Ethmocephaly, Single ventricle OMIM:236100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microcephaly OMIM:613155
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Broad nasal tip... OMIM:249420
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Frontal bossing, Prominent metopic ridge, Congenital hip dislocation, Micr... OMIM:619512
Distal Duplication 5Q
Prominent nasal bridge, Micrognathia, Carious teeth, Thin vermilion border, Narrow mouth, Short n... ORPHA:96097
Joubert Syndrome
Encephalocele, Highly arched eyebrow, Hydrocephalus, Abnormal form of the vertebral bodies, Bipar... ORPHA:475
Arthrogryposis, Distal, Type 4
Kyphosis, Cranial asymmetry, Low anterior hairline, Low posterior hairline, Camptodactyly of 2nd-... OMIM:609128
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Dolichocephaly, Scoliosis, Short neck ORPHA:178148
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Cleft palate, Hypoplasia of the zygomatic bone, Narrow mouth, ... ORPHA:83
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Short nose, Bilatera... OMIM:619859
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Nail-biting, Broad-based gait, Pain insensitivity, Malar flattening, Broad... OMIM:620330
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Flat occiput, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Mac... ORPHA:300570
Distal Triplication 15Q
Craniosynostosis, Micrognathia, Kyphosis, Hydrocephalus, Scoliosis, Intrauterine growth retardati... ORPHA:314588
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Obesity, Depression, Growth delay, Irritability, Short nose, Failure to thrive ORPHA:96147
3Mc Syndrome 1
Sacral dimple, Highly arched eyebrow, Supernumerary nipple, Postnatal growth retardation, Wide an... OMIM:257920
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Grayi... OMIM:253010
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Hyd... OMIM:259710
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa... ORPHA:1358
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Scoliosis ORPHA:2114
C Syndrome
Anteverted nares, Accessory oral frenulum, Micrognathia, Wide nasal bridge, Wide mouth, High pala... OMIM:211750
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Ataxia, Hypogonadotropic hypogonadism, Postnatal gr... OMIM:616113
Hurler Syndrome
Frontal bossing, Short stature, Camptodactyly of finger, Short neck, Hydrocephalus, Abnormality o... ORPHA:93473
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Frontal bossing, Short stature, Craniosynostosis, Micrognathia ORPHA:1064
Poikiloderma With Neutropenia
Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Carious teeth, Recurrent sinusit... OMIM:604173
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Malar flattening, Micrognathia, Absent frontal sinuses,... OMIM:154780
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353277
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Short nose, Anteverted nares, Thick vermilion border ORPHA:1185
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,... ORPHA:1790
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Macroglossia, High palate, At... ORPHA:357001
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Short stature, Genu recurvatum, Kyphosis, Brachycephaly, Scoliosis, Macroc... ORPHA:364028
Osteogenesis Imperfecta, Type Viii
Kyphosis, Wide anterior fontanel, Platyspondyly, Decreased calvarial ossification, Disproportiona... OMIM:610915
Fetal Hydantoin Syndrome
Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Short nose ORPHA:1912
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of teeth, Hypoplasia of teeth, ... OMIM:608612
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, High palate, Long philt... OMIM:300749
Schaaf-Yang Syndrome
Mandibular prognathia, Frontal bossing, Short stature, Kyphosis, Scoliosis, Retrognathia, Thick e... OMIM:615547
Pseudoachondroplasia
Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Hypoplasia of the odontoid p... OMIM:177170
Mucopolysaccharidosis Type 1
Joint dislocation, Short stature, Hydrocephalus, Low anterior hairline, Spinal canal stenosis, Ab... ORPHA:579
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Relative macrocephaly, Frontal bossing, Joint dislocation, Rhizomelia, Ovoid vertebral bodies, Th... OMIM:618019
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Trisomy 1Q
Microretrognathia, Frontal bossing, Camptodactyly of finger, Hypoplastic toenails, Hydrocephalus,... ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Low anterior hairline, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate... OMIM:615803
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anteverted nares, Micrognathia, Tremor, Large for gestational age, Cleft ... OMIM:614080
Intellectual Developmental Disorder, Autosomal Dominant 38
Depressed nasal bridge, Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxi... OMIM:616393
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Microcephaly, Hydrocepha... ORPHA:370959
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Pallor, Delayed puberty OMIM:600462
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypothermia ORPHA:230
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Frontal bossing, Hypermelanotic macule, Hydrocephalus, Macrocephaly, Ventriculomegaly ORPHA:60040
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum... ORPHA:314655
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Macrocephaly OMIM:307000
Joubert Syndrome With Oculorenal Defect
Encephalocele, Highly arched eyebrow, Hydrocephalus, Biparietal narrowing, Scoliosis ORPHA:2318
Raine Syndrome
Mandibular prognathia, Natal tooth, Depressed nasal bridge, Choanal atresia, Micrognathia, Protru... OMIM:259775
Mend Syndrome
Sacral dimple, Short stature, Micrognathia, Kyphosis, Wide anterior fontanel, Hydrocephalus, Spot... ORPHA:401973
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Sclerotic vertebral body, Kyphosis, Hydrocephalus, Platyspondyly, Long eyelashe... OMIM:618476
Stickler Syndrome, Type I
Arthropathy, Micrognathia, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann... OMIM:108300
2P15P16.1 Microdeletion Syndrome
Prominent metopic ridge, Camptodactyly of finger, Supernumerary nipple, Microcephaly, Sparse eyeb... ORPHA:261349
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Short stature, Microcephaly, Hydrocephalus, Coarse hair, Mac... ORPHA:585
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Short stature, Micrognathia, Postnatal growth retardation, Short neck, Hydrocep... OMIM:257300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Pr... OMIM:301040
Renal And Mullerian Duct Hypoplasia
Short nose, Micrognathia OMIM:266810
Orthostatic Hypotension 1
Weakness of facial musculature, Intermittent hypothermia, Reduced circulating prolactin concentra... OMIM:223360
Multiple Pterygium-Malignant Hyperthermia Syndrome
Prominent metopic ridge, Severe short stature, Camptodactyly of finger, Kyphosis, Abnormal mandib... ORPHA:2215
Joubert Syndrome With Renal Defect
Encephalocele, Highly arched eyebrow, Hydrocephalus, Biparietal narrowing, Scoliosis ORPHA:220497
Monosomy 9Q22.3
Delayed eruption of teeth, Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral colu... ORPHA:77301
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... OMIM:615873
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flatten... ORPHA:3258
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Micrognathia, Deep philtrum, Cleft palate, Malar flattening, S... OMIM:610536
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... ORPHA:33226
Warburg Micro Syndrome 3
Postnatal growth retardation, Inability to walk, Short nose, Micrognathia OMIM:614222
Joubert Syndrome With Ocular Defect
Encephalocele, Highly arched eyebrow, Hydrocephalus, Biparietal narrowing, Scoliosis, Abnormal ve... ORPHA:220493
Aymé-Gripp Syndrome
Sparse scalp hair, Prominent metopic ridge, Short stature, Delayed cranial suture closure, Cranio... ORPHA:1272
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Prominent nasal bridge, Broad nasal tip, Bifid nasal tip, Persistence ... OMIM:300166
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Short stature, Limited wrist extension, Kyphosis, Scoliosis,... OMIM:108145
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Wide mo... OMIM:618590
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus, Scoliosis, Microcephaly OMIM:617244
Oculodentodigital Dysplasia
Narrow nasal bridge, Mandibular prognathia, Median cleft lip, Anteverted nares, Abnormal dental e... ORPHA:2710
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Thick hair, Hiatus hernia, Hypothermia, Atypical scarr... ORPHA:198
Subaortic Stenosis-Short Stature Syndrome
Short stature, Micrognathia, Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones ORPHA:3191
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Frontal bossing, Kyphoscoliosis, Spina bifida, Hydroceph... OMIM:109400
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Kyphosis, Synophrys, Hydrocephalus, Abnormal form of the vertebra... ORPHA:3042
Distal Deletion 9P
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose ORPHA:1642
X-Linked Intellectual Disability, Cabezas Type
Short stature, Camptodactyly of finger, Abnormal hair pattern, Short neck, Microcephaly, Kyphosis... ORPHA:85293
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Short stature, Impulsivity, Shyness, Hypogonadotropic hypogonadism, Growt... OMIM:301030
Meier-Gorlin Syndrome 6
Microretrognathia, Anteverted nares, Depressed nasal bridge, Small for gestational age, Underdeve... OMIM:616835
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Depressed nasal bridge, Decreased response to growth hormone stimulati... OMIM:614114
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Retrognathia, Anteverted nares, Hypoplasia of teeth OMIM:234050
Congenital Disorder Of Glycosylation, Type Iil
Microcephaly, Hydrocephalus, Growth delay, Intrauterine growth retardation, Enamel hypoplasia, Re... OMIM:614576
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Short stature, Short neck, Congestive heart failur... OMIM:105650
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Retrognathia, Wide nasal bridge, High palate, Short nose, Failure to thrive OMIM:618005
Coffin-Siris Syndrome
Delayed eruption of teeth, Hyperactivity, Depressed nasal bridge, Anteverted nares, Broad nasal t... ORPHA:1465
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Failure to thrive, Prominent nasal bridge, ... OMIM:601812
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E... ORPHA:309263
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... ORPHA:309256
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Absent frontal sinuses, Wide nasal bridge, Cleft palate, Multiple impac... OMIM:311300
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Pigmentary retinopathy, Scoliosis OMIM:618234
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Abnormality of the vertebral column, Abnormal vertebral morph... OMIM:276950
Oliver Syndrome
Mandibular prognathia, High palate, Short philtrum, Dental malocclusion ORPHA:2920
Desmosterolosis
Relative macrocephaly, Frontal bossing, Rhizomelia, Micrognathia, Microcephaly, Hydrocephalus, Ma... OMIM:602398
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Anterior pituitary hypoplasia, Proportionate short stature, Micrognathia,... OMIM:613457
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Abn... ORPHA:96169
Hurler-Scheie Syndrome
Short stature, Camptodactyly of finger, Micrognathia, Kyphosis, Contracture of the distal interph... OMIM:607015
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Frontal bossing, Sparse eyelashes, Hydrocephalus, Low posterior ha... OMIM:612863
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Coarse hair... OMIM:612289
Weaver Syndrome
Mandibular prognathia, Deep-set nails, Flat occiput, Thin nail, Kyphosis, Limited knee extension,... OMIM:277590
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Frontal bossing, Microcephaly, Hydrocephalus, Colpocephaly, Macrocep... OMIM:615219
Donnai-Barrow Syndrome
Short nose, Depressed nasal bridge ORPHA:2143
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Growth delay, ... ORPHA:261330
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Short stature, Scoliosis OMIM:618124
Basal Cell Nevus Syndrome 2
Frontal bossing, Hydrocephalus, Macrocephaly OMIM:620343
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Frontal bossing, Camptodactyly of finger, Craniosynostosis, Microgna... ORPHA:2462
Cohen Syndrome
Abnormality of retinal pigmentation, Short stature, Thick hair, Micrognathia, Hypoplasia of the m... ORPHA:193
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Hemiverteb... ORPHA:3412
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Short na... OMIM:278250
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Chorea, Progressive gait ataxia, Low frustration to... ORPHA:646
Dominant Beta-Thalassemia
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... ORPHA:231226
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Severe short stature, Abnormal dental enamel morphology, Kyphosis, Hydroce... ORPHA:2658
Acquired Purpura Fulminans
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... ORPHA:49566
15Q14 Microdeletion Syndrome
Short stature, Microcephaly, Kyphosis, Biparietal narrowing, Scoliosis ORPHA:261190
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Hypertrichosis OMIM:614898
2Q31.1 Microdeletion Syndrome
Prominent metopic ridge, Short stature, Camptodactyly of finger, Short neck, Micrognathia, Kyphos... ORPHA:251014
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition,... OMIM:608156
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Developmental Delay With Or Without Dysmorphic Facies And Autism
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent na... OMIM:618454
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Short attention span, Anteverted nares, Short stature, Aggressive behavior, ... OMIM:601358
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Dental crowd... OMIM:614188
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Short stature, Ventriculomegaly, Genu valgum OMIM:615630
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Dental malocclusion, Cleft palate, Downturned corners of mouth, High palate, Narrow... OMIM:265000
Hereditary Spherocytosis
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Ataxia, Hyperact... ORPHA:209905
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Short nose, Anteverted nares, Underdeveloped nasal alae ORPHA:2031
Desmosterolosis
Failure to thrive, Depressed nasal bridge, Micrognathia, Abnormality of the nose, Submucous cleft... ORPHA:35107
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Abnormality of retinal pigmentation, Short stature, Hyperlordosis ORPHA:3085
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Weiss-Kruszka Syndrome
Broad philtrum, Short nose, Anteverted nares, Exaggerated cupid's bow OMIM:618619
Pseudoaminopterin Syndrome
Frontal bossing, Sparse scalp hair, Short stature, Sagittal craniosynostosis, Micrognathia, Highl... ORPHA:221120
Carpenter Syndrome 2
Depressed nasal bridge, Anteverted nares, Carious teeth, High, narrow palate, Dental malocclusion... OMIM:614976
Cockayne Syndrome
Abnormal dental morphology, Delayed eruption of primary teeth, Cachexia, Carious teeth, Dental ma... ORPHA:191
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Progressive microcephaly, Scoliosis, Microcephaly OMIM:615249
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Microretrognathia, Sacral dimple, Flat occiput, Ventriculomegaly, Short neck, Postnatal growth re... OMIM:300966
Megalocornea-Intellectual Disability Syndrome
Frontal bossing, Short stature, Micrognathia, Microcephaly, Kyphosis, Scoliosis, Macrocephaly, Ge... ORPHA:2479
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Micrognathia, Wide nasal b... OMIM:247200
Alkuraya-Kucinskas Syndrome
Micrognathia, Hydrocephalus, Plagiocephaly, Macrocephaly, Dandy-Walker malformation, Ventriculome... OMIM:617822
Deeah Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:619004
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Holoprosencephaly 7
Frontal bossing, Flat occiput, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Microcepha... OMIM:610828
Spondyloenchondrodysplasia
Delayed eruption of teeth, Dental malocclusion ORPHA:1855
16Q24.3 Microdeletion Syndrome
Frontal bossing, Highly arched eyebrow, Micrognathia, Abnormal hair pattern, Kyphosis, Colpocepha... ORPHA:261250
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Diastema, Cario... OMIM:244450
Myelofibrosis
Pallor, Purpura OMIM:254450
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Dystonia, Prominent... ORPHA:522077
Becker Nevus Syndrome
Hypermelanotic macule, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta ORPHA:64755
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Microcephaly ORPHA:398189
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Inc... ORPHA:268810
Pelger-Huet Anomaly
Frontal bossing, Kyphosis, Umbilical hernia, Macrocephaly, Mild short stature OMIM:169400
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Dend Syndrome
Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum ORPHA:79134
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Frontal bossing, Sacral dimple, Lumbar hyperlordosis, Cloverleaf skull, Craniosynostosis, Microgn... ORPHA:508533
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Spina bifida occulta, A... OMIM:218600
Acrofacial Dysostosis 1, Nager Type
Short stature, Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Trismus, Hydrocephalus,... OMIM:154400
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft ORPHA:1236
Myopathy, Centronuclear, 2
Kyphosis, Intrauterine growth retardation, Scoliosis, Hyperlordosis OMIM:255200
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Hypothyroidism, Short... ORPHA:268261
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Short stature, Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Synophrys, Microce... OMIM:618443
Coffin-Lowry Syndrome
Delayed eruption of teeth, Frontal bossing, Craniofacial hyperostosis, Abnormality of retinal pig... ORPHA:192
Holoprosencephaly 14
Frontal bossing, Ventriculomegaly, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Micr... OMIM:619895
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Scoliosis OMIM:618484
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short stature, Hip subluxation, Kyphosis, Synophrys, Bilateral camptodactyly, Growth delay, Scoli... OMIM:619557
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Brachycephaly, Abno... ORPHA:666
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Lathosterolosis
Anteverted nares, Micrognathia, Bulbous nose, Gingival overgrowth, Downturned corners of mouth, H... ORPHA:46059
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion ORPHA:83601
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Pontocerebellar Hypoplasia, Type 7
Micrognathia, Synophrys, Hydrocephalus, Hirsutism, Progressive microcephaly, Hypopigmentation of ... OMIM:614969
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Gm1-Gangliosidosis, Type I
Frontal bossing, Severe short stature, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scolio... OMIM:230500
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Scoliosis OMIM:617542
Flynn-Aird Syndrome
Carious teeth, Kyphosis, Alopecia, Scoliosis ORPHA:2047
Monosomy 18Q
Mandibular prognathia, Short stature, Kyphoscoliosis, Microcephaly, Hydrocephalus, Low anterior h... ORPHA:1600
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Failure to thrive, Micrognathia, Protruding tongue, Thick vermilion border, Narrow mou... OMIM:608779
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Depressed nasal bridge, Hair-pulling, Wide nasal bridge, Irritability, Dysphagia, ... ORPHA:447997
Williams Syndrome
Micrognathia, Periorbital edema, Tremor, Compulsive behaviors, Microdontia, Abnormal dental morph... ORPHA:904
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Small for gestational a... OMIM:268400
Micro Syndrome
Anteverted nares, Micrognathia, Wide nasal bridge, High palate, Short philtrum, Short nose ORPHA:2510
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Bradycardia, Hypotension, Pallor, Petechiae, Purpura ORPHA:90051
Sialidosis Type 2
Kyphosis, Umbilical hernia, Short stature ORPHA:87876
Lopes-Maciel-Rodan Syndrome
Ankle clonus, Kyphosis, Scoliosis OMIM:617435
Rabin-Pappas Syndrome
Mandibular prognathia, Highly arched eyebrow, Micrognathia, Microcephaly, Hydrocephalus, Postnata... OMIM:620155
Marinesco-Sjogren Syndrome
Short stature, Microcephaly, Kyphosis, Scoliosis, Cubitus valgus OMIM:248800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Short nose OMIM:614749
Otopalatodigital Syndrome Type 2
Encephalocele, Tarsal synostosis, Camptodactyly of finger, Micrognathia, Elbow dislocation, Myelo... ORPHA:90652
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Mohr Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Scoliosis, Agenesis of cen... OMIM:252100
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choan... OMIM:166250
Oligomeganephronia
Branchial cyst, Hypertension, Secundum atrial septal defect ORPHA:2260
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Microg... ORPHA:2062
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Hyperpigmentation of the skin, Kyph... ORPHA:573278
Baller-Gerold Syndrome
Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Micrognathia, Cleft pa... ORPHA:1225
Joubert Syndrome 2
Encephalocele, Frontal bossing, Enlarged fossa interpeduncularis, Hydrocephalus, Macrocephaly, Me... OMIM:608091
Trisomy 10P
Depressed nasal bridge, Anteverted nares, Small for gestational age, Abnormality of the nose, Mic... ORPHA:171929
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Flat occiput, Cloverleaf skull, Craniosynostosis, Hydrocephalus, Small nail, Limited... OMIM:123790
Mccune-Albright Syndrome
Nasal congestion, Dental malocclusion, Abnormal facial skeleton morphology ORPHA:562
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Wide mouth, Short nose OMIM:614207
Cerebrocostomandibular Syndrome
Short stature, Spina bifida, Micrognathia, Microcephaly, Kyphosis, Myelomeningocele, Meningocele,... ORPHA:1393
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Abnormal pulmonary valve morphology, Hydrocephalus, Growth delay, Pall... ORPHA:667
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... OMIM:305100
Crisponi Syndrome
Kyphosis, Camptodactyly of finger, Scoliosis, Micrognathia ORPHA:1545
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Beta-Thalassemia Major
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... ORPHA:231214
Developmental And Epileptic Encephalopathy 49
Frontal bossing, Thick eyebrow, Microcephaly, Hydrocephalus, Long eyelashes, Dandy-Walker malform... OMIM:617281
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Microcephaly, Spinal rigidity OMIM:615084
Brachytelephalangic Chondrodysplasia Punctata
Proportionate short stature, Broad nasal tip, Postnatal growth retardation, Hypoplasia of the max... ORPHA:79345
Spastic Paraplegia 46, Autosomal Recessive
Ankle clonus, Kyphosis, Scoliosis OMIM:614409
Marburg Hemorrhagic Fever
Fever, Anorexia, Aggressive behavior, Dysesthesia, Hypothermia, Lethargy ORPHA:99826
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hemivertebrae, Growth delay, Holoprosencephaly, Abnormal vertebral morphology ORPHA:77298
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum, Wide mouth, Hig... ORPHA:1974
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Micrognathia, Hip dislocation, Genu valgum,... ORPHA:171436
Adams-Oliver Syndrome
Encephalocele, Alopecia, Hydrocephalus, Aplastic/hypoplastic toenail, Absent fingernail, Sparse h... ORPHA:974
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Hypothermia, Abnormality of the endocrine system, Inability to walk, Precocious... ORPHA:438213
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Frontal bossing, Communicating hydrocephalus, Hyperlordosis, Sparse eyebro... OMIM:617011
Atypical Rett Syndrome
Growth delay, Kyphosis, Secondary microcephaly, Scoliosis ORPHA:3095
Urban-Rogers-Meyer Syndrome
Short stature, Camptodactyly of finger, Micrognathia, Short neck, Kyphosis ORPHA:3409
Otopalatodigital Syndrome, Type Ii
Frontal bossing, Congenital hip dislocation, Short stature, Kyphoscoliosis, Short neck, Postnatal... OMIM:304120
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Hydrocephalus, Hypopigmented skin patches, Abnormality of ski... ORPHA:626
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Short stature, Iris hypopigmentation, A... OMIM:610443
Mosaic Trisomy 20
Vertebral fusion, Micrognathia, Kyphosis, Spinal canal stenosis, Depigmentation/hyperpigmentation... ORPHA:1724
Irida Syndrome
Pallor ORPHA:209981
Spondyloperipheral Dysplasia
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Flat acet... OMIM:271700
Jacobsen Syndrome
Flat occiput, Micrognathia, Short neck, Abnormal eyelash morphology, Hydrocephalus, Microcephaly,... OMIM:147791
African Trypanosomiasis
Somatic sensory dysfunction, Akinesia, Aggressive behavior, Abnormality of the endocrine system, ... ORPHA:3385
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, ... ORPHA:261337
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Fraser Syndrome
Cleft ala nasi, Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Cleft upper l... ORPHA:2052
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Anteverted nares, Micrognathia, Pierre-Robin sequence, Cleft palate, Down... OMIM:217980
Rhombencephalosynapsis
Microretrognathia, Short nose, Anteverted nares, Narrow mouth ORPHA:59315
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Joubert Syndrome 14
Encephalocele, Highly arched eyebrow, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker malf... OMIM:614424
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Mi... ORPHA:1507
Neurofibromatosis, Type I
Inguinal freckling, Short stature, Spina bifida, Aqueductal stenosis, Axillary freckling, Hydroce... OMIM:162200
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Athetosis, Narrow mouth, Microdontia, Short nose, Abnor... ORPHA:2719
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Malar flattening, Short nose ORPHA:93259
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni... OMIM:600145
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Hydrocephalus, White hair, Ocular albinism, Generalized hypopigmentation, Iris hyp... ORPHA:2720
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... OMIM:619426
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Pfeiffer Syndrome Type 1
High palate, Short nose, Depressed nasal bridge ORPHA:93258
Bor Syndrome
Branchial cyst ORPHA:107
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Congenital hip dislocation, Cubitus valgus, Hydrocephalus, Hemivertebrae, Scoliosi... OMIM:104350
Beta-Thalassemia Intermedia
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer ORPHA:231222
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Supernumerary tooth, Agenesis of molar, Scoliosis, Delayed puberty, Anterior plagioceph... OMIM:619718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Frontal bossing, Ventriculomegaly, Hydrocephalus, Macrocephaly, Retrognathia, Dand... OMIM:614643
Cleidocranial Dysplasia 1
Frontal bossing, Persistent open anterior fontanelle, Short stature, Delayed eruption of primary ... OMIM:119600
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Flat occiput, Sparse facial hair, Mi... ORPHA:2232
Cold Agglutinin Disease
Pallor ORPHA:56425
Hydrolethalus
Hydrocephalus, Retrognathia, Anencephaly, Micrognathia ORPHA:2189
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Cockayne Syndrome Type 2
Mandibular prognathia, Hypermelanotic macule, Delayed eruption of primary teeth, Kyphosis, Scolio... ORPHA:90322
Noonan Syndrome 14
Curly hair, Short stature, Short neck, Sparse eyebrow, Kyphosis, Low posterior hairline, Lateral ... OMIM:619745
Diaphanospondylodysostosis
Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, Short nose OMIM:608022
Orofaciodigital Syndrome Type 4
Wide nose, Median cleft lip, Failure to thrive, Abnormal oral mucosa morphology, Choanal atresia,... ORPHA:2753
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... OMIM:229400
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Highly arched eyebrow, Hydrocephalus, Biparietal narrowing, Scoliosis, M... ORPHA:1454
Orofaciodigital Syndrome I
Microretrognathia, Frontal bossing, Dry hair, Alopecia, Short stature, Microcephaly, Carious teet... OMIM:311200
Autosomal Dominant Robinow Syndrome
Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Micrognathia, O... ORPHA:3107
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Anemic pallor, Retinal hemorrhage ORPHA:86839
Alg1-Cdg
Kyphosis, Progressive microcephaly, Scoliosis ORPHA:79327
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Icf Syndrome
Communicating hydrocephalus, Short stature, Micrognathia, Macrocephaly, Umbilical hernia ORPHA:2268
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Micrognathia, Hypopl... ORPHA:828
Srd5A3-Cdg
Abnormal hair morphology, Kyphosis, Abnormal sacrum morphology, Spotty hyperpigmentation, Hypertr... ORPHA:324737
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Sialidosis Type 1
Frontal bossing, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:812
Williams-Beuren Syndrome
Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Broad nasal tip, Thick lo... OMIM:194050
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Short neck, Micrognathia, Kyphosis, Hip disloc... ORPHA:140
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border, Malar flattening, Sho... OMIM:616723
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Micrognathia, Kyphosis, Low anterior hairline, Brachycephaly, Scoliosis ORPHA:404440
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Sacral dimple, Fair hair, Alopecia, Craniosynostosis, Hyperlordosis, Postnatal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Sacral dimple, Fair hair, Alopecia, Craniosynostosis, Hyperlordosis, Postnatal... ORPHA:363958
Ayme-Gripp Syndrome
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the denti... OMIM:601088
Gm1 Gangliosidosis
Mandibular prognathia, Frontal bossing, Short stature, Camptodactyly of finger, Hyperlordosis, Ky... ORPHA:354
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Thin upper lip vermilion, Hyperactivity, Depressed nasal bridge, Small for gestational age, Broad... OMIM:309590
Fanconi Anemia, Complementation Group B
Short neck, Hydrocephalus, Growth delay, Intrauterine growth retardation, Abnormal vertebral morp... OMIM:300514
Sarcoidosis
Fever, Alopecia, Hyperthyroidism, Diabetes insipidus, Facial palsy, Scarring, Hypothermia, Weight... ORPHA:797
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Malar flattening, Sh... OMIM:612394
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Micrognathia, Narrow mouth, Short nose, Convex nasal ridge ORPHA:90154
Mend Syndrome
Microretrognathia, Sacral dimple, Short stature, Micrognathia, Kyphosis, Hydrocephalus, Spotty hy... OMIM:300960
Aregenerative Anemia
Abnormal bleeding, Bruising susceptibility, Pallor ORPHA:101096
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Growth delay, Anemic pallor, Hematochezia ORPHA:329971
Cerebrofaciothoracic Dysplasia
Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum ORPHA:1394
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Microcephaly, Spinal rigidity ORPHA:352447
Mietens Syndrome
Wide nose, Wide nasal bridge, Short nose ORPHA:2557
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Craniosynostosis, Microcephaly, Kyphosis, Contracture of the proximal interphalang... OMIM:618050
Fibrochondrogenesis 1
Depressed nasal bridge, Anteverted nares, Cleft palate, Narrow mouth, Malar flattening, Short nos... OMIM:228520
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Stuve-Wiedemann Syndrome 1
Pursed lips, Anteverted nares, Micrognathia, Carious teeth, Thin vermilion border, Smooth tongue,... OMIM:601559
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Coach Syndrome 2
Hydrocephalus OMIM:619111
Congenital Myopathy 22B, Severe Fetal
Tented upper lip vermilion, Dental crowding, Micrognathia, Wide nasal bridge, Triangular mouth, H... OMIM:620369
Multiple Sulfatase Deficiency
Short stature, Hydrocephalus, Hypoplastic vertebral bodies, Increased CSF protein concentration, ... OMIM:272200
Osteopetrosis, Autosomal Recessive 5
Short stature, Micrognathia, Microcephaly, Hydrocephalus, Cranial hyperostosis, Growth delay, Hip... OMIM:259720
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Anteverted nares, Small for gestational age, Broad nasal tip, Abnormali... ORPHA:363611
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Spinal rigidity, Microcephaly, Hydrocephalus, Scoliosis, Ventriculomegaly OMIM:613150
Brachyolmia Type 3
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis OMIM:113500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tremor... ORPHA:280633
Costello Syndrome
Deep-set nails, Curly hair, Ventriculomegaly, Short stature, Thin nail, Limited elbow movement, M... OMIM:218040
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Pallor ORPHA:35858
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... OMIM:613458
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, D... OMIM:268310
Beta-Ketothiolase Deficiency
Hypertension, Pallor, Hypotension ORPHA:134
Donnai-Barrow Syndrome
Malar flattening, Short nose, Depressed nasal bridge, Broad nasal tip OMIM:222448
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Wi... OMIM:617157
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Fanconi Anemia, Complementation Group D2
Anemic pallor, Short stature, Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphology,... OMIM:227646
Blomstrand Lethal Chondrodysplasia
Natal tooth, Depressed nasal bridge, Anteverted nares, Protruding tongue, Micrognathia, Long phil... ORPHA:50945
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Depressed nasal bridge, Short stature, Small for gestational age, Short nose, Convex nasa... OMIM:300661
Marden-Walker Syndrome
Severe short stature, Camptodactyly of finger, Micrognathia, Microcephaly, Kyphosis, Hydrocephalu... ORPHA:2461
Molybdenum Cofactor Deficiency, Complementation Group B
Growth delay, Irritability, Short nose, Opisthotonus OMIM:252160
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Short stature, Short neck, Postnatal growth retardation, Microcephal... ORPHA:168577
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Prader-Willi Syndrome
Hypopigmentation of hair, Short stature, Iris hypopigmentation, Dolichocephaly, Carious teeth, Ky... OMIM:176270
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Ogden Syndrome
Microretrognathia, Torticollis, Depressed nasal bridge, Short stature, Maternal diabetes, Underde... OMIM:300855
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Kyphosis, Scoliosis, Sparse hair, Retrognathia, Ventriculomegaly OMIM:616449
Retinitis Pigmentosa 75
Pallor OMIM:617023
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Abnormal hair whorl, Hydrocephalus, Plagiocephaly, Scoliosis, Ventriculo... ORPHA:457284
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxation, Scoliosis, Wormian bones OMIM:617821
Schneckenbecken Dysplasia
Malar flattening, Short nose, Cleft palate OMIM:269250
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Kyphosis, Low anterior hairline, Intrauterine growth retardation OMIM:619909
Incontinentia Pigmenti
Delayed eruption of teeth, Short stature, Erythema, Retinal hemorrhage, Pallor OMIM:308300
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular... ORPHA:508488
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Ventriculomegaly, Thick hair, Synophrys, Hydrocephalus, Abnormal form ... ORPHA:581
Trisomy 13
Abnormal eyelash morphology, Kyphosis, Scoliosis, Intrauterine growth retardation, Calvarial skul... ORPHA:3378
Microphthalmia With Limb Anomalies
Frontal bossing, Abnormal eyebrow morphology, Short stature, Hypoplasia of the premaxilla, Tarsal... ORPHA:1106
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Micrognathia, Knee flexion contracture, Sparse hair, Prominent metopic ridge, Sparse ... OMIM:210710
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Kabuki Syndrome
Ventriculomegaly, Short stature, Highly arched eyebrow, Microcephaly, Hydrocephalus, Vertebral cl... ORPHA:2322
1Q21.1 Microdeletion Syndrome
Frontal bossing, Short stature, Microcephaly, Hydrocephalus, Scoliosis, Intrauterine growth retar... ORPHA:250989
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Anemic pallor, Short stature, Intrauterine growth retardation, Bruisin... OMIM:227645
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia ORPHA:2131
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Pain insensitivity, Hyperactivity, Corneal scarring, Nail dystrophy, Self-muti... OMIM:256800
Isolated Arrhinia
Facial cleft ORPHA:1134
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Kyphosis, Genu recurvatum, Scoliosis OMIM:609008
Trichothiodystrophy 1, Photosensitive
Short nose, Retrognathia, Small for gestational age, Triangular mouth OMIM:601675
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Irregular vertebral endplates, Shoul... OMIM:143095
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Abnormal left ventricular function, Ecchymosis, Internal hemorrh... ORPHA:99827
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bu... OMIM:271510
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Anteverted nares, Cachexia, Micrognathia, Narrow palate, Long philtrum, Short nose ORPHA:109
Coffin-Siris Syndrome 12
Micrognathia, Synophrys, Low anterior hairline, Short stature, Highly arched eyebrow, Dolichoceph... OMIM:619325
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, High, narrow palate, Thick lower lip verm... OMIM:230740
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology OMIM:600901
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Dental crowding, Cl... OMIM:301044
Congenital Sialidosis Type 2
Macrocephaly, Umbilical hernia, Hydrocephalus, Generalized hypertrichosis ORPHA:93400
Tay-Sachs Disease
Pallor OMIM:272800
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Thin upper lip vermilion, Cleft lip, Cleft palate, Prominent nasolabial fold, ... ORPHA:2953
Alg9-Cdg
Microretrognathia, Torticollis, Depressed nasal bridge, Rhizomelia, Underdeveloped nasal alae, Mi... ORPHA:79328
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Short nose ORPHA:93260
Peters-Plus Syndrome
Limited elbow movement, Short neck, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Conic... OMIM:261540
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Malar flattening, S... OMIM:601353
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion OMIM:259730
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Short stature, Highly arched eyebrow, Micrognathia, Microcephaly... OMIM:194190
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Chops Syndrome
Anteverted nares, High, narrow palate, Obesity, Downturned corners of mouth, Long philtrum, Short... OMIM:616368
Acro-Renal-Mandibular Syndrome
Short neck, Micrognathia, Kyphosis, Hemivertebrae, Hip dislocation, Hypoplasia of the zygomatic b... ORPHA:958
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Cone-Rod Dystrophy 8
Pallor OMIM:605549
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Medulloblastoma
Back pain, Hydrocephalus, Progressive macrocephaly, Delayed cranial suture closure ORPHA:616
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Arachnoid Cyst
Back pain, Encephalocele, Enlarged fossa interpeduncularis, Abnormal occipital bone morphology, H... ORPHA:2356
Zttk Syndrome
Relative macrocephaly, Frontal bossing, Curly hair, Ventriculomegaly, Short stature, Craniosynost... OMIM:617140
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Pallor, Hypotension ORPHA:98849
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Brachycephaly, Parietal bossing, Dandy-Walker malformation, Genu varum,... OMIM:264090
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Communicating hydrocephalus, Craniosynostosis, Short neck, Highly arched e... ORPHA:309282
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short... ORPHA:636
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Khan-Khan-Katsanis Syndrome
Short stature, Micrognathia, Dysphagia, Intrauterine growth retardation, Short nose, Failure to t... OMIM:618460
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology OMIM:227650
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Mandibular prognathia, Communicating hydrocephalus, Ventriculomegaly, Lumbar hyperlordosis, Kypho... ORPHA:457359
Focal Dermal Hypoplasia
Narrow nasal bridge, Delayed eruption of teeth, Cleft ala nasi, Cleft upper lip, Broad nasal tip,... OMIM:305600
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Narrow nasal ridge, Dysmetria, Gait ataxia, Dist... OMIM:606721
Short-Rib Thoracic Dysplasia 12
Natal tooth, Short neck, Hydrocephalus, Anencephaly, Holoprosencephaly, Hypoplastic nipples, Macr... OMIM:269860
Pelizaeus-Merzbacher Disease
Kyphosis, Short stature, Scoliosis, Microcephaly ORPHA:702
Mucolipidosis Type Ii
Hip contracture, Dry hair, Prominent metopic ridge, Short stature, Craniosynostosis, Limited wris... ORPHA:576
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Abnormality of the vertebral column, Abnormal vertebral morphology, Hydrocephalus OMIM:314390
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Spondyloepimetaphyseal Dysplasia, Krakow Type
Frontal bossing, Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, Knee flexion contractur... OMIM:618162
Pallister-Hall Syndrome
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Depressed nasal bridge, Sh... OMIM:146510
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... OMIM:609152
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Exaggerated median tongue furrow, Depressed nasal bridge, Anteverted nares... OMIM:312870
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Walker-Warburg Syndrome
Microcephaly, Hydrocephalus, Macrocephaly, Dandy-Walker malformation, Ventriculomegaly ORPHA:899
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Thoracic scoliosis, Sacral dimple, Alopecia, Phalangeal dislocation, Kyphoscol... ORPHA:536532
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Nephronophthisis 18
Hydrocephalus OMIM:615862
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly OMIM:231670
Prolactinoma
Pallor, Hypotension, Delayed puberty ORPHA:2965
Trisomy 18
Microretrognathia, Short stature, Choanal atresia, Cachexia, Growth delay, Cognitive impairment, ... ORPHA:3380
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Submucous cleft soft palate... ORPHA:2282
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Umbilical hernia OMIM:601499
Senior-Loken Syndrome 8
Pallor OMIM:616307
Isotretinoin-Like Syndrome
Microcephaly, Postnatal growth retardation, Micrognathia, Hydrocephalus, Intrauterine growth reta... ORPHA:2306
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Macrocephaly OMIM:217090
Pseudotrisomy 13 Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Hemivertebrae, Holoprosencephaly OMIM:264480
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Communicating hydrocephalus, Micrognathia, Synophrys, Low anterior hairlin... OMIM:619841
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Elbow flexion contracture, Scoli... ORPHA:98863
Fanconi Anemia
Frontal bossing, Short stature, Spina bifida, Micrognathia, Microcephaly, Hydrocephalus, Hip disl... ORPHA:84
Diamond-Blackfan Anemia
Ventricular septal defect, Short stature, Short neck, Abnormal heart morphology, Growth delay, Pa... ORPHA:124
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Joint dislocation, Progressive macrocephaly, Increased head circumfe... ORPHA:25
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Endocrine-Cerebroosteodysplasia
Natal tooth, Micrognathia, Hydrocephalus, Holoprosencephaly, Dolichocephaly, Midface retrusion, V... OMIM:612651
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Pulmonary arterial hypertension, Atrial septal defect... OMIM:620186
Childhood Absence Epilepsy
Pallor ORPHA:64280
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Warburg Micro Syndrome 2
Postnatal growth retardation, Short nose, Prominent nasal bridge OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Spinal rigidity, Hydrocephalus, Holoprosencephaly, Scoliosis OMIM:253800
Opsismodysplasia
Short nose, Depressed nasal bridge ORPHA:2746
Microphthalmia, Lenz Type
Delayed eruption of teeth, Short stature, Camptodactyly of finger, Hyperlordosis, Microcephaly, K... ORPHA:568
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Short stature, Highly arched eyebrow, Micrognathia... OMIM:147920
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Depressed nasal bridge, Short stature, Disproportionate short-trunk short stature, Increased size... ORPHA:457395
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis ORPHA:98855
Hemangioblastoma
Hydrocephalus ORPHA:252054
Degcags Syndrome
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Pulmona... OMIM:619488
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Hip dislocation, Increased laxity of ankles, Scoliosis OMIM:254090
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Abnormality of the denti... ORPHA:261112
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, Thin eyebrow, Midface retrusion OMIM:609944
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Micrognathia OMIM:243440
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Short nose OMIM:200600
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Sparse scalp hair, Microcephaly, Sparse eyebrow, Kyphosis, Dilated third v... ORPHA:464738
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Knobloch Syndrome
Occipital encephalocele, Abnormal hair morphology, Hydrocephalus, Midface retrusion, Calvarial sk... ORPHA:1571
Coffin-Siris Syndrome 1
Dry hair, Brachycephaly, Spina bifida occulta, Dandy-Walker malformation, Dislocated radial head,... OMIM:135900
Fumarase Deficiency
Perimembranous ventricular septal defect, Pallor OMIM:606812
22Q11.2 Deletion Syndrome
Turricephaly, Short stature, Abnormal dental enamel morphology, Spina bifida, Short neck, Microgn... ORPHA:567
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Witteveen-Kolk Syndrome
High, narrow palate, Short philtrum, High palate, Hyperplasia of the maxilla, Microretrognathia, ... OMIM:613406
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep... OMIM:618332
Letterer-Siwe Disease
Pallor OMIM:246400
Peroxisome Biogenesis Disorder 4B
Short nose, Ataxia, Gait disturbance, Adrenal insufficiency OMIM:614863
Neonatal Lupus Erythematosus
Hydrocephalus, Macrocephaly ORPHA:398124
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Sacral dimple, Severe short stature, Abnormal dental enamel ... ORPHA:2556
Cono-Spondylar Dysplasia
Short nail, Short neck, Kyphosis, Scoliosis, Midface retrusion ORPHA:420794
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Lathosterolosis
Anteverted nares, Micrognathia, Wide nasal bridge, Gingival overgrowth, Thin vermilion border, Hi... OMIM:607330
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Cleft palate,... ORPHA:1449
Oxoglutaric Aciduria
Hydrocephalus, Short stature ORPHA:31
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbou... OMIM:619522
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Dural Sinus Malformation
Myelopathy, Hydrocephalus, Macrocephaly ORPHA:97339
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis ORPHA:98853
Mirage Syndrome
Intrauterine growth retardation, Hydrocephalus, Short stature, Scoliosis OMIM:617053
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly, Scoliosis ORPHA:1335
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:79107
Paget Disease Of Bone 5, Juvenile-Onset
Relative macrocephaly, Short stature, Kyphosis, Macrocephaly, Thickened calvaria OMIM:239000
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Pigmentary retinopathy, Lateral ventricle dilatation, Dilated th... OMIM:613154
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Short stature, Rhizomelia, Abnormal dental enamel morphology, Short nec... ORPHA:818
Noonan Syndrome 1
Failure to thrive in infancy, Micrognathia, High, narrow palate, Dental malocclusion, Cleft palat... OMIM:163950
Elliptocytosis 1
Pallor OMIM:611804
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Lumbar hyperlordosis, Thick hair, Short neck, Hydrocephalus,... ORPHA:505248
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Short stature, Kyphosis, Melanocytic nevus, Scoliosis, Multi... ORPHA:1969
Rett Syndrome
Kyphosis, Secondary microcephaly, Short stature, Scoliosis OMIM:312750
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Short neck, Kyphosis, Hemivertebrae, Brachycephaly, Low anterior hairline, Contrac... OMIM:618223
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Numerous pigmented freckles, Short stature, Hydrocephalus, Microcephaly ORPHA:220295
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Short nose, Long philtrum OMIM:258480
Lhermitte-Duclos Disease
Trichilemmoma, Hydrocephalus, Macrocephaly ORPHA:65285
H Syndrome
Abnormal eyebrow morphology, Alopecia, Short stature, Hydrocephalus, Delayed puberty, Hyperpigmen... ORPHA:168569
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Micrognathia, Short neck, Hydrocephalus, Growth delay, Intrauterine growth re... OMIM:614083
Cowden Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Scoliosis OMIM:615108
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Opisthotonus, Macroglo... OMIM:269150
Alstrom Syndrome
Alopecia, Short stature, Kyphosis, Pigmentary retinopathy, Hyperostosis frontalis interna, Scoliosis OMIM:203800
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Hydrocephalus, Micrognathia ORPHA:3301
Functioning Gonadotropic Adenoma
Hydrocephalus, Abnormality of secondary sexual hair, Delayed puberty ORPHA:91348
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Frontal bossing, Wide cranial sutures, Brachycephaly, Umbilical hern... OMIM:618188
C Syndrome
Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Micrognathia, Failure to thriv... ORPHA:1308
Esophageal Atresia
Growth delay, Tetralogy of Fallot, Ventricular septal defect, Pallor ORPHA:1199
47,Xyy Syndrome
Hydrocephalus, Macrocephaly ORPHA:8
Molybdenum Cofactor Deficiency, Complementation Group A
Opisthotonus, Short nose, Thick vermilion border, Long philtrum OMIM:252150
Fucosidosis
Kyphosis, Abnormality of the nail, Brachycephaly, Anterior beaking of lumbar vertebrae ORPHA:349
Craniopharyngioma
Proportionate short stature, Postnatal growth retardation, Hydrocephalus, Growth delay, Delayed p... ORPHA:54595
Trisomy 8P
Sacral dimple, Short neck, Microcephaly, Hydrocephalus, Metopic suture patent to nasal root, Low ... ORPHA:264450
Toriello-Lacassie-Droste Syndrome
Short nose, Failure to thrive, Anteverted nares ORPHA:3339
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis, Micrognathia OMIM:615381
Thakker-Donnai Syndrome
Communicating hydrocephalus, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Intraute... ORPHA:1780
Specc1L-Related Hypertelorism Syndrome
Prominent nasal bridge, Wide nasal bridge, Orofacial cleft, Thin vermilion border, Everted lower ... ORPHA:1519
Spondylocarpotarsal Synostosis Syndrome
Anteverted nares, Broad nasal tip, Cleft palate, Failure of eruption of permanent teeth, Short no... OMIM:272460
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Inguinal freckling, Short stature, Kyphoscoliosis, Micrognathia, Hyperlordosis, Axillary frecklin... ORPHA:363700
Cowden Syndrome 6
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Scoliosis OMIM:615109
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Ankle clonus, Kyphosis, Scoliosis OMIM:609541
Cerebral Visual Impairment
Hydrocephalus, Microcephaly ORPHA:447788
Arachnoiditis
Hydrocephalus ORPHA:137817
Yunis-Varon Syndrome
Sparse scalp hair, Wide cranial sutures, Short stature, Sparse eyelashes, Abnormal occipital bone... ORPHA:3472
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Microcephaly, Hydrocephalus, Holoprose... ORPHA:2166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Micrognathia, Microcephaly, Meningoencephalocele, Hydr... OMIM:236670
Geleophysic Dysplasia 2
Thin upper lip vermilion, Short nose, Smooth philtrum, Long philtrum OMIM:614185
Wiedemann-Rautenstrauch Syndrome
Synophrys, Hypoplastic vertebral bodies, Sparse hair, Short stature, Cranial asymmetry, Widely pa... ORPHA:3455
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Semilobar Holoprosencephaly
Short stature, Proboscis, Microcephaly, Hydrocephalus, Hip dislocation, Growth delay, Neural tube... ORPHA:220386
Postencephalitic Parkinsonism
Kyphosis, Abnormal CSF protein concentration, Camptocormia, CSF lymphocytic pleiocytosis ORPHA:97349
Alobar Holoprosencephaly
Short stature, Proboscis, Microcephaly, Hydrocephalus, Hip dislocation, Growth delay, Neural tube... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Proboscis, Microcephaly, Hydrocephalus, Hip dislocation, Growth delay, Neural tube... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Proboscis, Microcephaly, Hydrocephalus, Hip dislocation, Growth delay, Neural tube... ORPHA:93924
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Micrognathia ORPHA:1237
Wolf-Hirschhorn Syndrome
Frontal bossing, Sacral dimple, Highly arched eyebrow, Micrognathia, Microcephaly, Kyphosis, Abno... ORPHA:280
Chromosome 1P36 Deletion Syndrome, Distal
Frontal bossing, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Microcephal... OMIM:607872
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Failure to thrive in infancy, Broad nasal tip, Micrognathia, Abnormali... ORPHA:798
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Kyphosis, Pigmentary retinopathy, Scoliosis, Flexion con... ORPHA:88628
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short stature, Genu va... ORPHA:583
Encephalocraniocutaneous Lipomatosis
Alopecia, Linear hyperpigmentation, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Whipple Disease
Arthritis, Hydrocephalus, Generalized hyperpigmentation ORPHA:3452
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Natal tooth, Ventriculomegaly, Camptodactyly o... OMIM:249000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Delayed eruption of teeth, Broad-based gait, Depressed nasal bridge, Decre... OMIM:619503
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Low anterior hairline ORPHA:261222
Cornelia De Lange Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short statu... ORPHA:199
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Flat occiput, Micrognathia, Short stature, Abnormal dental enamel morpholo... ORPHA:534
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Irregularity of vertebral bodies, Otosclerosis, Abnormality of retin... ORPHA:580
Atelosteogenesis, Type I
Depressed nasal bridge, Micrognathia, Cleft palate, Malar flattening, Short nose OMIM:108720
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Carious teeth, Kyphosis, Elbow dislocation, Abnormal form of the vertebral... ORPHA:2769
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Wide nose, Aplasia of the nasal bone, Anteverted... ORPHA:93357
Gracile Bone Dysplasia
Hydrocephalus, Short stature OMIM:602361
Mgat2-Cdg
Kyphosis, Progressive microcephaly, Long eyelashes, Hypoplastic nipples, Scoliosis, Dolichocephal... ORPHA:79329
Jacobsen Syndrome
Anteverted nares, Short stature, Wide nasal bridge, Growth delay, Attention deficit hyperactivity... ORPHA:2308
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly OMIM:616546
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Aneurysm-Osteoarthritis Syndrome
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula ORPHA:284984
Coccidioidomycosis
Broad skull, Hydrocephalus, CSF pleocytosis, CSF lymphocytic pleiocytosis, Arthritis, Abnormality... ORPHA:228123
Geleophysic Dysplasia 1
Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum OMIM:231050
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Pallor, Hypertensive crisis ORPHA:544482
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Dilated third ventricle OMIM:619575
Ramon Syndrome
Delayed eruption of teeth, Short stature, Kyphosis, Pigmentary retinopathy, Scoliosis, Juvenile r... OMIM:266270
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Depressed nasal bridge, Anteverted nares, Abnormality... ORPHA:536471
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... OMIM:203500
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Microcephaly, Hydrocephalus, Genu valgum, Intrauterine growth retardatio... OMIM:619321
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Scoliosis OMIM:158350
Rett Syndrome, Congenital Variant
Kyphosis, Progressive microcephaly, Midface retrusion, Scoliosis OMIM:613454
Toriello-Carey Syndrome
Short stature, Micrognathia, Postnatal growth retardation, Intrauterine growth retardation, Short... ORPHA:3338
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Microcephaly, Broad skull, Hydrocephalus, Aplasia/Hypoplasia of the nails ORPHA:163979
Peters Plus Syndrome
Frontal bossing, Sacral dimple, Short stature, Rhizomelia, Short neck, Postnatal growth retardati... ORPHA:709
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Microcephaly ORPHA:395
Roberts-Sc Phocomelia Syndrome
Craniosynostosis, Micrognathia, Postnatal growth retardation, Short neck, Hydrocephalus, Frontal ... OMIM:268300
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Short stature, Kyphosis, Scoliosis, Hypopigmentation of the skin, Ventr... ORPHA:398069
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Aplasia/Hypoplasia of the nails, Microcephaly, Micrognathia OMIM:619123
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormality of the ver... ORPHA:2369
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... OMIM:164210
Orofaciodigital Syndrome Iii
Kyphosis, Supernumerary tooth, Hyperconvex nail OMIM:258850
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Increased head circumference, Lateral ventricle dilatation OMIM:612301
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Frontal bossing, Alopecia, Severe short stature, Absent eyebrow, Abnormal dental enamel morpholog... ORPHA:2273
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Neurooculorenal Syndrome
Highly arched eyebrow, Micrognathia, Postnatal growth retardation, Aqueductal stenosis, Hydroceph... OMIM:620305
Omodysplasia 1
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Long philtrum, Malar flattening, Short nose OMIM:258315
Okamoto Syndrome
Exaggerated median tongue furrow, Tented upper lip vermilion, Depressed nasal bridge, Anteverted ... ORPHA:2729
Pallister-Hall Syndrome
Adrenal hypoplasia, Large for gestational age, Depressed nasal ridge, Gonadotropin deficiency, Pa... ORPHA:672
Arterial Tortuosity Syndrome
Malar flattening, Short nose, Abnormal zygomatic bone morphology, Median cleft lip and palate ORPHA:3342
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Supernumerary nipple, Short neck, Kyphosis, Elbow flexion contracture, Knee flex... OMIM:619194
Branchiooculofacial Syndrome
Supernumerary nipple, Hyperlordosis, Postnatal growth retardation, Kyphosis, Short neck, Microgna... OMIM:113620
Sturge-Weber Syndrome
Hydrocephalus, Heterochromia iridis, Macrocephaly ORPHA:3205
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Microcephaly, Kyphosis, Birth length less than 3rd percentile, Scolios... ORPHA:464311
Holt-Oram Syndrome
Kyphosis, Radioulnar synostosis, Scoliosis ORPHA:392
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Primrose Syndrome
Sparse scalp hair, Hip contracture, Short stature, Absent facial hair, Hypoplasia of the maxilla,... OMIM:259050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Obesity, Downturned corners of mouth, G... ORPHA:444077
Stromme Syndrome
Hydrocephalus, Microcephaly, Micrognathia OMIM:243605
Loeys-Dietz Syndrome 1
Craniosynostosis, Micrognathia, Hydrocephalus, Cervical spine instability, Scoliosis, Retrognathia OMIM:609192
Multiple Endocrine Neoplasia Type 2
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Laurin-Sandrow Syndrome
Hydrocephalus, Tarsal synostosis, Abnormality of the wrist ORPHA:2378
Autosomal Recessive Ataxia, Beauce Type
Ankle clonus, Kyphosis, Scoliosis ORPHA:88644
Phocomelia, Schinzel Type
High, narrow palate, Short nose, Cleft palate, Micrognathia ORPHA:2879
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Relative macrocephaly, Frontal bossing, Kyphoscoliosis, Kyphosis, Macrocephaly, Increased head ci... OMIM:300967
1P36 Deletion Syndrome
Frontal bossing, Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Delayed cra... ORPHA:1606
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Facial cleft ORPHA:93271
Aspartylglucosaminuria
Mandibular prognathia, Abnormality of the dentition, Carious teeth, Wide nasal bridge, Gingival o... ORPHA:93
Occipital Horn Syndrome
Persistent open anterior fontanelle, Kyphosis, Capitate-hamate fusion, Genu valgum, Growth delay,... OMIM:304150
Noonan Syndrome 3
High palate, Hypoplastic nasal bridge, Anteverted nares, Short nose OMIM:609942
Atelis Syndrome 2
Frontal bossing, Sacral dimple, Microcephaly, Micrognathia, Kyphosis OMIM:620185
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Short stature, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Synophrys, Patchy... ORPHA:3063
Tetrasomy 9P
Joint dislocation, Sacral dimple, Abnormal dental enamel morphology, Micrognathia, Short neck, Pi... ORPHA:3310
Dyrk1A-Related Intellectual Disability Syndrome
Short stature, Microcephaly, Kyphosis, Scoliosis, Primary microcephaly, Intrauterine growth retar... ORPHA:464306
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Micrognathia, Wide nasal bridge, Thin vermilion border, High palate, U-Shaped upper ... OMIM:609945
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Microcephaly, Hydrocephalus, Pigmentary retinopathy, Colpocephaly OMIM:309801
Brown-Vialetto-Van Laere Syndrome 1
Ankle clonus, Kyphosis, Scoliosis OMIM:211530
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Retrognathia ORPHA:2736
Gaucher Disease Type 1
Kyphosis, Osteoarthritis, Growth delay, Delayed puberty, Vertebral compression fracture ORPHA:77259
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Hirsutism, Biconcave vertebral bodies OMIM:219090
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Growth delay, Brittle hair, Communicating hydrocephalus OMIM:616084
Fetal Akinesia Deformation Sequence 1
Hip contracture, Camptodactyly of finger, Micrognathia, Short neck, Hydrocephalus, Short umbilica... OMIM:208150
Meckel Syndrome
Encephalocele, Micrognathia, Microcephaly, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, D... ORPHA:564
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Hydrocephalus, Microcephaly OMIM:277400
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Smith-Lemli-Opitz Syndrome
Microretrognathia, Sacral dimple, Short stature, Micrognathia, Microcephaly, Hydrocephalus, Hip d... OMIM:270400
Osteoporosis-Pseudoglioma Syndrome
Short stature, Kyphoscoliosis, Microcephaly, Kyphosis, Platyspondyly, Scoliosis, Biconcave verteb... OMIM:259770
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Brachycephaly, Growth delay, Scoliosis, Delayed puberty, Thoracolumbar kyphosis, V... ORPHA:2072
Marfan Syndrome
Arthralgia/arthritis, Protrusio acetabuli, Limited elbow movement, Micrognathia, Kyphosis, Mening... ORPHA:558
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Micrognathia, Attention deficit hyperactivity disorder, Long philtrum,... OMIM:618820
Congenital Ptosis
Prominent metopic ridge, Cafe-au-lait spot, Long eyelashes, Piebaldism ORPHA:91411
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Knee flexion contracture, Kyphosis, Dolichocephaly, Micrognathia OMIM:619708
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Anteverted nares, Cleft upper lip, High, narrow palate, Wide nasal bridge,... ORPHA:373
Proteus Syndrome
Central heterochromia, Abnormal form of the vertebral bodies, Abnormality of skin pigmentation, A... ORPHA:744
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Poland Syndrome
Encephalocele, Short neck, Microcephaly, Kyphosis, Hemivertebrae, Finger symphalangism, Low poste... ORPHA:2911
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Wrist swelling, H... OMIM:309000
Aspartylglucosaminuria
Short stature, Microcephaly, Kyphosis, Brachycephaly, Platyspondyly, Spondylolysis, Scoliosis, Be... OMIM:208400
Cockayne Syndrome Type 3
Dry hair, Mild postnatal growth retardation, Carious teeth, Kyphosis, Premature graying of hair, ... ORPHA:90324
Loeys-Dietz Syndrome 3
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula OMIM:613795
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Short stature,... ORPHA:99413
Mosaic Monosomy X
Short neck, Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Short stature,... ORPHA:99228
Monosomy X
Short neck, Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Short stature,... ORPHA:99226
Turner Syndrome
Short neck, Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Short stature,... ORPHA:881
Dextrocardia
Hydrocephalus, Congenital hip dislocation ORPHA:1666
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Depressed nasal bridge, Failure to thrive in infancy, Hypoplasia of the maxilla, Wide nasal bridg... ORPHA:500150
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Concave nasal ridge, High palate, Lo... OMIM:271665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Pallor OMIM:253280
Acromegaly
Mandibular prognathia, Broad jaw, Frontal bossing, Generalized hyperpigmentation, Abnormal finger... ORPHA:963
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Somatomammotropinoma
Mandibular prognathia, Broad jaw, Frontal bossing, Generalized hyperpigmentation, Abnormal finger... ORPHA:314769
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Hypoplastic toenails, Aqueduc... OMIM:306955
Camurati-Engelmann Disease
Delayed eruption of teeth, Frontal bossing, Hyperlordosis, Carious teeth, Kyphosis, Genu valgum, ... ORPHA:1328
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Cleft palate, Short columella, High palate, Narrow m... OMIM:601776
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Kyphosis, Microcephaly OMIM:212065
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Biliary hyperplasia, Intrahepatic chol... OMIM:619991
Acrocephalopolydactylous Dysplasia
Short nose OMIM:200995
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Oeis Complex
Absence of the sacrum, Congenital hip dislocation, Myelomeningocele, Sacral segmentation defect, ... OMIM:258040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Loeys-Dietz Syndrome 2
Protrusio acetabuli, Craniosynostosis, Micrognathia, Hydrocephalus, Joint contracture of the hand... OMIM:610168
Femoral-Facial Syndrome
Thin upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Cleft palate, Long philtrum, S... OMIM:134780
Gaucher Disease
Joint dislocation, Short stature, Hydrocephalus, Osteoarthritis, Abnormality of skin pigmentation... ORPHA:355
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Fraser Syndrome 3
Hydrocephalus, Micrognathia OMIM:617667
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Lymphedema-Distichiasis Syndrome
Yellow nails, Kyphosis, Distichiasis, Micrognathia OMIM:153400
Classic Homocystinuria
Abnormality of retinal pigmentation, Sparse scalp hair, Kyphosis, Genu valgum, Scoliosis ORPHA:394
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Hellp Syndrome
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Yunis-Varon Syndrome
Flat occiput, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia,... OMIM:216340
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus, Hyperpigmentation of the skin ORPHA:637
Cowden Syndrome
Short stature, Kyphosis, Hypopigmented skin patches, Melanocytic nevus, Scoliosis, Macrocephaly, ... ORPHA:201
Superficial Siderosis
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage ORPHA:247245
Sotos Syndrome
Sacrococcygeal teratoma, Hypopigmentation of the skin, Ventriculomegaly, Hip contracture, Cranios... ORPHA:821
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Thick eyebrow, Scoliosis, Hyperlordosis OMIM:162300
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Viss Syndrome
Microretrognathia, Frontal bossing, Sparse scalp hair, Alopecia, Short stature, Recurrent joint d... OMIM:619472
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, Di... OMIM:300106
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Hypertension, Internal hemorrhage, Cardiac rhabdomyoma ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve mo... ORPHA:286
Yellow Fever
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... ORPHA:99829
Lymphangioleiomyomatosis
Abnormality of skin pigmentation, Ungual fibroma, Hydrocephalus ORPHA:538
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Meningioma
Back pain, Hydrocephalus ORPHA:2495
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Short stature, Scoliosis OMIM:182210
Cryptococcosis
Hydrocephalus ORPHA:1546
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Exstrophy-Epispadias Complex
Abnormal joint morphology, Hydrocephalus, Spina bifida, Microcephaly ORPHA:322
Pallister-Killian Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal ... OMIM:601803
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Tetraamelia Syndrome 1
Hydrocephalus, Micrognathia OMIM:273395
Autosomal Recessive Spastic Paraplegia Type 35
Ankle clonus, Kyphosis ORPHA:171629
Hydrolethalus Syndrome 1
Micrognathia, Anencephaly, Severe hydrocephalus, Intrauterine growth retardation, Dandy-Walker ma... OMIM:236680
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
17Q11 Microdeletion Syndrome
Short stature, Freckling, Hypermelanotic macule, Kyphosis, Abnormality of the vertebral column, B... ORPHA:97685
Penile Agenesis
Short nose, Depressed nasal bridge ORPHA:49
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontal bossing, Short stature, Aqueductal stenosis, Hydrocephalus, Knee dislocation, Lateral ven... OMIM:619534
Townes-Brocks Syndrome 1
Microcephaly, Hydrocephalus, Umbilical hernia, Holoprosencephaly, Metatarsal synostosis OMIM:107480
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Pmm2-Cdg
Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology ORPHA:79318
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Alström Syndrome
Thoracic scoliosis, Abnormality of dental color, Short stature, Frontal balding, Kyphosis, Fine h... ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gtf2ird1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gtf2ird1.

No publications found that use IMPC mice or data for Gtf2ird1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gtf2ird1tm94996(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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