Gene Summary

Name:
fibroblast growth factor 8
Synonyms:
Fgf-8,  Aigf

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Fgf8tm1b(KOMP)Wtsi HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Fgf8tm1b(KOMP)Wtsi HOM   E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 50% (1 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote Ambiguous
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Echo

M-Mode Images

40 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

5 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Fgf8 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 predicted to be associated to Fgf8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Anterior hypopituitarism, Abnormal ... ORPHA:280195
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Joubert Syndrome 22
Postaxial hand polydactyly, Temporal cortical atrophy, Hypoplasia of the corpus callosum, 2-3 toe... OMIM:615665
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Delay... OMIM:614963
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood, Severe short stature OMIM:302000
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, C... OMIM:277170
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebellar hy... OMIM:619072
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal heart morphology, Syndactyly, Abnormal h... ORPHA:294975
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Molar toot... OMIM:614120
Slc35A2-Cdg
Abnormality of long bone morphology, Hip subluxation, Cerebral white matter atrophy, Abnormal mid... ORPHA:356961
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Hypoplasia of the co... OMIM:611134
Spinal Muscular Atrophy With Mental Retardation
Microcephaly, Syndactyly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dysplasia, Dysplastic corpus... OMIM:604213
Joubert Syndrome 32
Postaxial polydactyly, Polymicrogyria, Abnormal cerebellum morphology, Molar tooth sign on MRI, H... OMIM:617757
Orofaciodigital Syndrome Xv
Postaxial polydactyly, Broad hallux, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Joubert Syndrome 18
Ventricular septal defect, Polydactyly, Camptodactyly, Intrauterine growth retardation, Molar too... OMIM:614815
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Overlapping fingers, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyria, Talipes equinov... OMIM:616531
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Joubert Syndrome 36
Mesoaxial hand polydactyly, Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 10
Molar tooth sign on MRI, Postaxial polydactyly, Cerebellar vermis hypoplasia OMIM:300804
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Achondroplasia
Limited elbow extension, Brain stem compression, Trident hand, Rhizomelia, Megalencephaly, Bowing... OMIM:100800
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus c... ORPHA:2570
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Midl... OMIM:617542
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Finger syndactyly, Abnormality of the elbow, Microcephaly, Clinodactyly of... ORPHA:3268
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, Male hypogonadism, Syndactyly, 2-4 toe syndactyly OMIM:241000
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Dystonia 30
Hypothalamic hamartoma, Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility... OMIM:619291
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism, Central adr... ORPHA:54595
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Duplication of metatarsal bon... OMIM:600384
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Myocardial necrosis, Abnormal hypothalamus morphology, A... ORPHA:68
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Joubert Syndrome 30
Postaxial hand polydactyly, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformatio... OMIM:617622
Al-Gazali-Bakalinova Syndrome
Genu valgum, Clinodactyly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Joubert Syndrome 7
Hypoplasia of the brainstem, Postaxial hand polydactyly, Brainstem dysplasia, Postaxial polydacty... OMIM:611560
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal midbrain morphology, Abnormal hypothalamus morpholog... ORPHA:314621
Pituicytoma
Abnormality of the pituitary gland, Pituicytoma, Abnormality of circulating adrenocorticotropin l... ORPHA:251623
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, Agenesis of corpus callosum, Preaxial hand polydactyly, ... ORPHA:380
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
20Q11.2 Microdeletion Syndrome
Finger clinodactyly, Brainstem dysplasia, Camptodactyly, Intrauterine growth retardation, Adducte... ORPHA:444051
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal brainste... ORPHA:99852
Joubert Syndrome 17
Polydactyly, Syndactyly, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614615
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyel... ORPHA:101070
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Stillbirth, 2-3 toe syndactyly, Cerebellar hypoplasia, Brachydactyly... OMIM:236500
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Broad thumb, Finger syndactyly, Synostosis of carpal ... OMIM:102510
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Joubert Syndrome 20
Syndactyly, Molar tooth sign on MRI, Postaxial polydactyly OMIM:614970
Neuralgic Amyotrophy
Acrocyanosis, Short stature ORPHA:2901
Bardet-Biedl Syndrome 5
Polydactyly, Hypogonadism, Syndactyly, Brachydactyly OMIM:615983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebra... OMIM:613153
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Hydr... ORPHA:1532
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Filippi Syndrome
Cryptorchidism, Cutaneous syndactyly, Finger clinodactyly, Ventricular septal defect, Cerebellar ... OMIM:272440
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Postaxial polydactyly, Anencephaly OMIM:614175
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:617761
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Clinodactyly, Syndactyly, Dilated cardiomyopathy, Brac... OMIM:610140
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Chromosome 2Q35 Duplication Syndrome
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplasia of the corpus ca... ORPHA:2822
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Webbed neck, Branchial anomaly, Abnormal mitral valve morphology ORPHA:1131
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Joubert Syndrome 16
Polydactyly, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Interhypothalamic Adhesion, Dextrocardia, Atrioventricular canal defect, Supernum... OMIM:618929
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Postaxial polydactyly, Dysgenesis of the cerebellar vermis, Dilated third ventricle, Short digit,... ORPHA:397715
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Growth delay, Ascites, Cyanosis, Chylopericardium ORPHA:2414
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the brainstem, Type II lissencephaly, Hydroceph... ORPHA:370959
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Postaxial hand polydactyly, Hydrocephalus, Abnormal heart morphology, Hip... OMIM:241800
Boomerang Dysplasia
Cryptorchidism, Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndacty... ORPHA:1263
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Bardet-Biedl Syndrome 6
Polydactyly, Diabetes mellitus, Syndactyly OMIM:605231
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Postaxial hand polydactyly, Agenesis of corpus callosum, 1-3 toe syndactyly, Broa... OMIM:175700
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Aminopterin Syndrome Sine Aminopterin
Cryptorchidism, Megalencephaly, Umbilical hernia, Rudimentary postaxial polydactyly of hands, Cli... OMIM:600325
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Pontocerebellar Hypoplasia Type 10
Simplified gyral pattern, Abnormal brainstem morphology, Abnormal cerebral cortex morphology ORPHA:411493
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Postaxial hand polydactyly, ... OMIM:608091
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Rhombencephalosynapsis, Ventricular septal defect, Hypoplasia of the... OMIM:619306
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Abnormal cerebellar vermis morphology, Type II lissencephaly, Metata... ORPHA:300570
Carpenter Syndrome
Cryptorchidism, Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger synd... ORPHA:65759
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Joubert Syndrome 15
Polydactyly, Molar tooth sign on MRI OMIM:614464
Curry-Jones Syndrome
Cutaneous syndactyly of toes, Preaxial hand polydactyly, Broad thumb, Megalencephaly, Arnold-Chia... OMIM:601707
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Cerebellar Purkinje layer atrophy, Olivopontocerebellar hypoplasia... ORPHA:98756
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Preaxial polydactyly, Cerebellar vermis hypoplasia, Postaxial polydactyly, ... OMIM:616546
Brachydactyly, Type B1
Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplasia/Hypoplasia of the... OMIM:113000
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Adult Krabbe Disease
Abnormal corpus callosum morphology, Abnormality of the medulla oblongata, Abnormal pons morpholo... ORPHA:206448
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Hypoplasia of the brainstem, Cutaneous syndactyly, Aplasia/Hypoplasia of the... OMIM:617822
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Joubert Syndrome 1
Hypoplasia of the brainstem, Postaxial hand polydactyly, Brainstem dysplasia, Cerebellar vermis h... OMIM:213300
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Pulmonic stenosis, Aortic va... OMIM:220210
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Central Y-sh... ORPHA:2754
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Ritscher-Schinzel Syndrome 2
Cryptorchidism, Atrial septal defect, Overlapping toe, Ventricular septal defect, Camptodactyly, ... OMIM:300963
Joubert Syndrome With Ocular Defect
Agenesis of corpus callosum, Hand polydactyly, Abnormality of the hypothalamus-pituitary axis, Ce... ORPHA:220493
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Hypoplasia of the brainstem, Mitral valve prolapse, Abnormal midbrain morphology,... ORPHA:444072
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventricular septal defect, Polydactyly, Megalencephaly, Polymicrogyria, ... OMIM:602501
Joubert Syndrome With Oculorenal Defect
Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the hypothalamus-pitu... ORPHA:2318
Apnea, Central Sleep
Cyanosis OMIM:207720
Gordon Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Camptodactyly of finger, Finger syndactyly ORPHA:376
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Cerebellar calcifications, Thalamic calcification OMIM:618824
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Pachygyria, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Clinodactyly, Sy... OMIM:619091
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Aplasia/Hypoplasia of the corpus ca... ORPHA:1908
Breath-Holding Spells
Cyanosis OMIM:607578
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, 2-3 finger syndactyly, Atrial septal defect, Broad thumb, Cer... ORPHA:435638
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Isolated Klippel-Feil Syndrome
Spina bifida, Low posterior hairline, Ventricular septal defect, Webbed neck, Congenital muscular... ORPHA:2345
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... ORPHA:3250
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Atrial septal defect, Abnormality of the anterior pituitary, Ventricu... ORPHA:75389
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis, Coarctation of aorta ORPHA:1209
Joubert Syndrome With Renal Defect
Hand polydactyly, Agenesis of corpus callosum, Abnormality of the hypothalamus-pituitary axis, Ce... ORPHA:220497
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Ventricular septal defect, 2-3 toe syndactyly, Sandal gap, Cut... OMIM:600987
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Abnormal hip bone morpholo... ORPHA:2720
Joubert Syndrome 35
Molar tooth sign on MRI, Single transverse palmar crease, Cerebellar vermis hypoplasia, Elongated... OMIM:618161
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Arrhinencephaly, Aqueductal stenosis, Aplasia/Hypoplasi... ORPHA:1788
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus, Isosexual precoc... ORPHA:759
Rhombencephalosynapsis
Short phalanx of finger, Finger syndactyly, Polydactyly, Fusion of the left and right thalami, Se... ORPHA:59315
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon, Talipes ... OMIM:601374
Monosomy 5P
Intrauterine growth retardation, Microcephaly, Small hand, Finger syndactyly ORPHA:281
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Giant Axonal Neuropathy
Genu valgum, Abnormality of the pituitary gland, Abnormal hand morphology, Abnormal cerebellum mo... ORPHA:643
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
Laurin-Sandrow Syndrome
Cryptorchidism, Preaxial hand polydactyly, Tarsal synostosis, Aplasia/Hypoplasia of the corpus ca... ORPHA:2378
Hypomelanosis Of Ito
Hand polydactyly, Cerebral atrophy, Radial deviation of finger, Clinodactyly, Syndactyly, Microce... OMIM:300337
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebellar vermis, Hydro... ORPHA:163961
Ring Chromosome 21 Syndrome
Abnormal heart morphology, Holoprosencephaly, Narrow palm, Clinodactyly, Syndactyly, Small hand, ... ORPHA:1445
Holt-Oram Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Partial duplication of thumb phalanx, Ab... OMIM:142900
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of ... ORPHA:2141
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta, Micr... ORPHA:64754
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Acromelic Frontonasal Dysostosis
Cryptorchidism, Polydactyly, Hypoplasia of the corpus callosum, Preaxial polydactyly, Hypopituita... OMIM:603671
Moebius Syndrome
Talipes equinovarus, Hypoplasia of the brainstem, Short phalanx of finger, Split hand, Camptodact... OMIM:157900
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal brainstem MRI signal intensity, Abnormal brainstem m... ORPHA:88619
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the... ORPHA:135
Bardet-Biedl Syndrome 4
Cryptorchidism, Polydactyly, Syndactyly, Hypogonadism, Brachydactyly OMIM:615982
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Hypergonadotropic hypogonadism, Leukoencephalopathy OMIM:613724
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Finger clinodactyly, Macroorchidism, Ce... ORPHA:8
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Pfeiffer Syndrome Type 1
Short hallux, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Broad hallux phalanx,... ORPHA:93258
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Camptodactyly... OMIM:300244
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Neonatal death,... OMIM:228940
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Aplasia Cutis Congenita
Spinal dysraphism, Toe syndactyly, Finger syndactyly ORPHA:1114
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Cerebral atrophy, Focal T2 hyperintense thalamic lesion OMIM:619057
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Clinodactyly, Metaphyseal dysplas... ORPHA:557003
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Natal tooth, Patent ductus arteriosus, Mesoaxial foot polyd... OMIM:146510
Eosinophilic Fasciitis
Acrocyanosis, Muscular edema, Edema ORPHA:3165
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Broad thumb, Radioulnar synostosis, Fing... ORPHA:392
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Camptodactyly, Syndactyly, Joint contracture of the hand OMIM:225280
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Short hallux, Toe syndactyly, Finger syndactyly, Cerebellar hypoplasia, Abnormality of the metaca... ORPHA:3224
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Abnormal thalamic MRI signal intens... ORPHA:157846
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Finger syndactyly, Abnormality of epiphysis morphology, Clinodactyly, Agenesis of co... ORPHA:166024
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Atrial septal defect, Branchial anomaly, Ventricular septal defect, Abnormal hear... ORPHA:453499
Bohring-Opitz Syndrome
Dislocated radial head, Deep palmar crease, Hypoplasia of the brainstem, Atrial septal defect, Ov... OMIM:605039
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Squared iliac bones, Hypoplastic pelvis, Rhizomelia, Preaxial polydactyly, Cerebe... OMIM:616300
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Elongated superior cerebell... OMIM:610688
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Brachydactyly, Hydro... OMIM:617866
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95513
Wildervanck Syndrome
Meningocele, Webbed neck, Low posterior hairline, Short neck ORPHA:3456
Silver-Russell Syndrome 3
Cryptorchidism, Syndactyly, Patent ductus arteriosus, Finger clinodactyly OMIM:616489
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Sclerosteosis
Curved distal phalanges of the hand, 2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly ORPHA:3152
Septooptic Dysplasia
Absent septum pellucidum, Polydactyly, Short finger, Anterior pituitary hypoplasia, Diabetes insi... OMIM:182230
Joubert Syndrome 23
Polydactyly, Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Right ventricula... ORPHA:444013
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Holoprosencephaly, Abnormality of the radius, Abnormality of the diencephalon, ... ORPHA:2165
Rubinstein-Taybi Syndrome 2
Microcephaly, Syndactyly, Broad thumb, Broad hallux OMIM:613684
Thoraco-Abdominal Enteric Duplication
Meningocele, Dextrocardia, Abnormal tricuspid valve morphology ORPHA:1759
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria,... ORPHA:370997
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Adrenal hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Polydactyly, Holop... OMIM:612651
Arima Syndrome
Hypoplasia of the brainstem, Postaxial hand polydactyly, Brainstem dysplasia, Occipital meningoce... OMIM:243910
Buerger Disease
Acrocyanosis ORPHA:36258
Summitt Syndrome
Syndactyly OMIM:272350
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland, Genu valgum OMIM:614880
Pfeiffer Syndrome Type 2
Short hallux, Broad thumb, Toe syndactyly, Arnold-Chiari malformation, Finger syndactyly, Hallux ... ORPHA:93259
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Bor Syndrome
Branchial cyst ORPHA:107
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Finger syndactyly, Hypothyroidism, Short distal phalanx of finger, Delay... ORPHA:2994
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Syndac... OMIM:601005
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis morphology, Decreased ... ORPHA:95717
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, A... ORPHA:2492
Charlie M Syndrome
Finger syndactyly, Split hand, Abnormality of the metacarpal bones, Triphalangeal thumb, Brachyda... ORPHA:1406
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity, Metaphyseal chondrodysplasia, Hypoplasia of the corpus c... ORPHA:83629
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Cyanotic episode, Short neck, Intrauterine growth retardation ORPHA:284417
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Delayed puberty, Abnormality of the wrist, Proximal... ORPHA:1825
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... OMIM:617395
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Tarp Syndrome
Deep palmar crease, Hypoplasia of the radius, Cutaneous syndactyly, Short sternum, Cerebellar ver... OMIM:311900
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95512
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimuation test OMIM:615925
Orofaciodigital Syndrome I
Ovarian cyst, Hypothalamic hamartoma, Porencephalic cyst, Hydrocephalus, Abnormal heart morpholog... OMIM:311200
Orofaciodigital Syndrome Type 14
Postaxial hand polydactyly, Deviation of the hallux, Molar tooth sign on MRI, Ventricular septal ... ORPHA:434179
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
6P22 Microdeletion Syndrome
Clinodactyly, Patent ductus arteriosus, Hydrocephalus, Finger syndactyly ORPHA:251046
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Palmoplantar keratoderma, Finger syndactyly, Short thumb, Triphalangeal ... ORPHA:2251
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
17Q12 Microduplication Syndrome
Toe syndactyly, Atrial septal defect, Cortical dysplasia, Finger syndactyly ORPHA:261272
Congenital Heart Defects And Ectodermal Dysplasia
Microcephaly, Syndactyly, Broad thumb OMIM:617364
Acrocardiofacial Syndrome
Cryptorchidism, Camptodactyly of finger, Atrial septal defect, Toe syndactyly, Truncus arteriosus... ORPHA:2008
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Pelvis-Shoulder Dysplasia
Dislocated radial head, Spina bifida, Camptodactyly of finger, Mesomelic/rhizomelic limb shorteni... ORPHA:2839
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis OMIM:250800
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Split foot, Spina bifida occulta, Myelomeningocele, Hydr... OMIM:183802
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Syndactyly OMIM:615284
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Low posterior hairline, Short neck, Cervical spina bifida OMIM:600122
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Cryptorchidism, Atrial septal defect, Patent foramen ovale, Overlapping toe,... OMIM:618316
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Delayed proximal femoral epiphyseal ossification, Ab... ORPHA:95716
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, 3-4 finger syndactyly, Hypoplastic ni... ORPHA:2437
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, Increased circ... ORPHA:91354
Holoprosencephaly
Branchial anomaly, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Abnormal pulm... ORPHA:2162
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Finger syndactyly, Clinodactyly of th... ORPHA:3210
Craniofrontonasal Dysplasia
Camptodactyly of finger, Hand polydactyly, Finger syndactyly, Hypoplasia of the corpus callosum, ... ORPHA:1520
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:70587
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Poland Syndrome
Hypoplasia of deltoid muscle, Unilateral brachydactyly, Dextrocardia, Syndactyly, Unilateral olig... OMIM:173800
Weaver Syndrome
Cryptorchidism, Camptodactyly of finger, Broad thumb, Finger syndactyly, Large hands, Sandal gap,... ORPHA:3447
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Aplasia/Hypoplasia of the cerebellum, Toe syndactyly, Hand polydactyly, Finger syndactyly, Polymi... ORPHA:60040
Hemifacial Microsomia
Branchial anomaly, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Hydr... OMIM:164210
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Cryptorchidism, Broad distal phalanx of finger, Abnormal hear... ORPHA:404440
Mosaic Trisomy 1
Long toe, Complete duplication of thumb phalanx, Elbow flexion contracture, 2-3 finger syndactyly... ORPHA:1692
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Hydrocephalus, Anteri... ORPHA:91348
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Postaxial hand polydactyly, Porencephalic cys... OMIM:252100
Double Outlet Right Ventricle
Truncus arteriosus, Short stature, Coarctation of aorta, Pulmonary artery atresia, Cyanosis ORPHA:3426
Tibial Hemimelia
Cryptorchidism, Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus... ORPHA:93322
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Abnormal heart... ORPHA:79264
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Methylcobalamin Deficiency Type Cble
Hypoplasia of the brainstem, Abnormal cerebral white matter morphology, Clinodactyly, Syndactyly,... ORPHA:2169
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Elevated circula... OMIM:101800
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hand polydactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the corpus ca... ORPHA:1647
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Prominent calcaneus, Short toe, Delayed eruptio... ORPHA:2980
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Microcephaly, Clinodactyly, Syndactyly, Arachnodactyly OMIM:619092
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Pfeiffer Syndrome
Humeroradial synostosis, Broad thumb, Arnold-Chiari malformation, Finger syndactyly, Elbow ankylo... OMIM:101600
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Orofaciodigital Syndrome Xiv
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosu... OMIM:615948
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Cavum septum pellucidum... OMIM:274000
Grange Syndrome
Syndactyly, Patent ductus arteriosus, Short palm, Ventricular septal defect ORPHA:79094
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Pituitary hypothyroidism, Delayed puberty, ... ORPHA:95619
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Natal tooth, Sandal gap, Neonatal death, Syndactyly, Tapere... OMIM:609638
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Atrial septal defect, Stillbirth, Ventricular septal defect, Duplicati... OMIM:263630
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Interrupted aortic arch, Webbed neck, Death in infancy, Generalized edema, Cy... OMIM:617478
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly, Palmoplantar keratoderma OMIM:613576
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Hypertrophic cardiomyopathy ORPHA:79279
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Short metacarpal, C... OMIM:605282
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Atrial septal defect, Hand polydactyly, Adrenal hypoplasia,... ORPHA:7
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Cardiomyopathy, Cerebellar hypoplasia, Patent ductus arteriosus, Abnormal cardiac... OMIM:217980
Aarskog-Scott Syndrome
Cryptorchidism, Short 5th finger, Elevated circulating luteinizing hormone level, Broad palm, Bil... OMIM:305400
Acute Interstitial Pneumonia
Pleural effusion, Peripheral edema, Pericardial effusion, Hypoxemia, Cyanosis ORPHA:79126
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Cryptorchidism, Finger syndactyly, Ventricular sep... ORPHA:2256
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Abnormal cardiac septum morpholo... ORPHA:3320
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Microcephaly, Clinodactyly, Syndactyly, Cerebellar hypoplasia OMIM:618087
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Inapprop... ORPHA:226307
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Abnormality of epiphysis morphology, Decreased circulating T4 level, Elevated circulating... ORPHA:226313
Limb-Mammary Syndrome
Split hand, Camptodactyly, Hypoplastic nipples, Syndactyly, Split foot, Joint contracture of the ... OMIM:603543
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Asbestos Intoxication
Oxygen desaturation on exertion, Cyanosis, Edema, Hypoxemia ORPHA:2302
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Premature adrenarche, Central hypothyroidism, Decreased response to... ORPHA:293987
Coach Syndrome 1
Postaxial hand polydactyly, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Aplasia/Hypopl... OMIM:216360
Pulmonary Capillary Hemangiomatosis
Pleural effusion, Pericardial effusion, Pedal edema, Hypoxemia, Pulmonary edema, Cyanosis ORPHA:199241
Silver-Russell Syndrome 1
Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Testicular semino... OMIM:180860
19P13.12 Microdeletion Syndrome
Cryptorchidism, Deep palmar crease, Atrial septal defect, Finger syndactyly, Ventricular septal d... ORPHA:254346
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Patent ductus arteriosus, Overriding aorta ORPHA:3304
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Tarsal synostosis, Finger syndactyly, Limb undergrowth, Abnormality of the metaca... ORPHA:3429
Camptobrachydactyly
Camptodactyly of finger, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulna... ORPHA:1319
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst ORPHA:2260
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Hypoplasia of the radius, Porencephalic cyst, Arrhinencephaly, Fusion of the left... OMIM:156810
Pallister-Hall Syndrome
Cryptorchidism, Broad thumb, Natal tooth, 3-4 finger cutaneous syndactyly, Pituitary hypothyroidi... ORPHA:672
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Filippi Syndrome
Cryptorchidism, Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Bilateral singl... ORPHA:3255
Aarskog-Scott Syndrome
Cryptorchidism, Camptodactyly of finger, Delayed eruption of teeth, Broad palm, Finger syndactyly... ORPHA:915
Laurence-Moon Syndrome
Cryptorchidism, Hand polydactyly, Finger syndactyly, Bilateral single transverse palmar creases, ... ORPHA:2377
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Cyanosis, Hypoxemia, Abnormal pulmonary artery morphology ORPHA:2257
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Toe syndactyly, Finger syndactyly, Cerebral calcification, Intrauterine growth re... ORPHA:73246
Chromosome Xp11.23-P11.22 Duplication Syndrome
Syndactyly, Precocious puberty OMIM:300801
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Agenesis of corpus callosum, Finger syndactyly, Inferior vermis hypoplasia, Posta... ORPHA:139471
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:145650
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 level, Umbilical hernia, Abnormality of thyroid physiology, Reduced radi... ORPHA:95715
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concentration, Slende... OMIM:601812
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation, Cerebral cortical atrophy ORPHA:404451
Neu-Laxova Syndrome 1
Cryptorchidism, Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ova... OMIM:256520
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Atrial septal defect, Branchial anomaly, Ventricular septal defect, Abnormal hear... ORPHA:453504
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Cryptorchidism, Talipes equinovarus, Delayed eruption of teeth, Advanced e... OMIM:619148
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Polydactyly, Hypothyroidism, Syndactyly, Intrauterine growth retardation, Small p... ORPHA:397590
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Atrial septal defect, Branchial anomaly, Ventricular septal defect, Abnormal hear... ORPHA:352665
Desbuquois Dysplasia 2
Metaphyseal widening, Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Short metacarpa... OMIM:615777
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Arnold-Chiari Malformation Type Ii
Hydrocephalus, Brain stem compression, Aqueductal stenosis, Meningocele, Hand muscle atrophy, Pol... ORPHA:1136
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cells in the cerebellar vermis, Ab... ORPHA:98755
Isolated Cloverleaf Skull Syndrome
Finger syndactyly ORPHA:2343
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida, Abnormality of dental eruption ORPHA:1327
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Diffuse white matter abnormalities, Hypointensity of cer... ORPHA:83597
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Microcephaly, Syndactyly, Brachydactyly OMIM:614701
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Atrial septal d... OMIM:619326
Pfeiffer Syndrome Type 3
Short hallux, Broad thumb, Toe syndactyly, Arnold-Chiari malformation, Finger syndactyly, Hallux ... ORPHA:93260
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Ventricular ... ORPHA:506
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Testicular atrophy, Syndactyly, Toe syndactyly OMIM:601163
Cranioectodermal Dysplasia
Finger syndactyly, Rhizomelia, Short distal phalanx of finger, Abnormal diaphysis morphology, Abn... ORPHA:1515
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Growth delay OMIM:614407
White Forelock With Malformations
Atrial septal defect, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly ORPHA:2475
Adams-Oliver Syndrome
Absent hand, Porencephalic cyst, Finger syndactyly, Split hand, Abnormality of the metacarpal bon... ORPHA:974
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Short phalanx of finger, 2-3 toe syndactyly, Clinodactyly, Syndactyly,... OMIM:614188
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, Cavum septum pellucidum, Atrial septal defect, Overlapping toe, Finger synda... ORPHA:464738
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Branchial fistula, Webbed neck, Patent ductus arteriosus, Tricuspid va... ORPHA:261337
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Mental Retardation, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Short phalanx of finger, Finger syndactyly, Short foot, Sandal gap, Sh... OMIM:264475
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Single transverse palmar crease, Sandal gap, Syndactyly, Brachydactyly, Micromelia OMIM:614800
Triploidy
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Holoprosencephaly, ... ORPHA:3376
New-Onset Refractory Status Epilepticus
Cerebellar edema, Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal intens... ORPHA:363558
Meckel Syndrome, Type 1
Cryptorchidism, Natal tooth, Patent ductus arteriosus, Anencephaly, Arnold-Chiari malformation, C... OMIM:249000
Orofaciodigital Syndrome Xvi
Postaxial hand polydactyly, Molar tooth sign on MRI OMIM:617563
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Hypoplasia of the corpus callosum, Abnormal cerebral whi... ORPHA:254930
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Growth delay, Erythema, Urticaria ORPHA:343
Kbg Syndrome
Cryptorchidism, Finger clinodactyly, Congenital malformation of the left heart, Cutaneous syndact... ORPHA:2332
Kallmann Syndrome-Heart Disease Syndrome
Growth delay, Pulmonary artery hypoplasia, Delayed puberty, Short stature, Cyanosis, Right aortic... ORPHA:2326
Microphthalmia With Limb Anomalies
Cryptorchidism, Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transverse pa... ORPHA:1106
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Hypergonadotropic hypogonadism, Insulin-resistant diabetes me... ORPHA:2959
Fg Syndrome Type 1
Cryptorchidism, Atrial septal defect, Abnormal thumb morphology, Aplasia/Hypoplasia of the corpus... ORPHA:93932
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Cyanosis, Death in infancy OMIM:265120
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Myxedema
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Toe syndactyly, Congenital hip dislocation, Finger syndactyly, Ventricular septal... ORPHA:217346
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Syndactyly, Brachydactyly OMIM:616589
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Intrauterine growth retardation, Brachydactyly, Micromelia ORPHA:2145
Distal 22Q11.2 Microdeletion Syndrome