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Gene: Pds5b MGI:2140945

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Gene Summary

Name:
PDS5 cohesin associated factor B
Synonyms:
Aprin,  AS3

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.

Select physiological systems to view:
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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (1 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 50% (1 of 2)
Mammary gland N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote Not available
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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 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.

Legacy Phenotype Associated Images
Pds5btm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Pds5btm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Pds5btm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Pds5btm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Pds5btm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI

View all 148 images

Pds5btm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Pds5btm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Pds5btm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Pds5btm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Pds5b 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pds5b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... OMIM:228520
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva... OMIM:269250
Femoral-Facial Syndrome
Micrognathia, Coxa vara, Orofacial cleft, Sprengel anomaly, Vertebral segmentation defect, Aplasi... ORPHA:1988
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, High palate, Clinodactyly of the 5th finger, Spina bifida occulta, S... OMIM:617877
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, High palate, Narrow greater sciatic notch, Joint contracture, Dislocated radial hea... OMIM:602471
Tarp Syndrome
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p... OMIM:311900
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Optic nerve hypoplasia, Anteverted nares, Microcephaly, Mi... OMIM:222765
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... OMIM:224300
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Diastem... OMIM:619142
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Mi... OMIM:611209
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Hallux valgus, Microcephaly, Micrognathia, Secundum atrial septal defect, Prominent n... OMIM:620194
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Proximal placement of thumb, Long nose, Partial agenesis of the corpus callosum, High palate, Cli... OMIM:620113
Tarp Syndrome
Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Finger ... ORPHA:2886
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Bilateral cry... OMIM:602535
Frank-Ter Haar Syndrome
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum... OMIM:249420
Omodysplasia 2
Tented upper lip vermilion, Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Clinodactyl... OMIM:164745
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Micromelia, High, nar... OMIM:122470
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra... OMIM:108720
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... OMIM:223800
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, Pectus ca... ORPHA:958
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r... ORPHA:950
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Micrognathia, Unilateral radial aplasia, Aplasia of the 1st metacarpal, Eruption... ORPHA:476126
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, Microcephaly, Micrognathia, Secundu... ORPHA:2257
Sandestig-Stefanova Syndrome
Rocker bottom foot, Short neck, Primary microcephaly, Muscular ventricular septal defect, Wide na... OMIM:618804
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer... OMIM:114290
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, S... OMIM:166250
Congenital Disorder Of Glycosylation, Type Iie
Micrognathia, Secundum atrial septal defect, Short neck, Death in infancy, Short stature, Neonata... OMIM:608779
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... ORPHA:2311
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... OMIM:210720
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,... ORPHA:85166
Hamamy Syndrome
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Atrial septal defect, Long... OMIM:611174
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... OMIM:620076
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Broad hallux, Short stature, Sandal gap, Microcephaly... OMIM:600987
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Hypodysplasia of the corpus callosum, Micrognathia, Short neck, Atrial septal defe... OMIM:257300
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Thin upper lip vermilion, Cerebellar vermis hypopl... OMIM:619135
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, External genital hypoplas... ORPHA:96334
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Anteverted nares, Microcephaly, Missing ribs, Short neck, Hyperlordosis, Sh... ORPHA:1797
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... OMIM:269860
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectu... ORPHA:1507
Catel-Manzke Syndrome
Atrial septal defect, Short stature, Camptodactyly of finger, Ventricular septal defect, Joint st... ORPHA:1388
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Short sta... OMIM:607326
Cleidocranial Dysplasia 1
Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, ... OMIM:119600
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short tibia, Hypoplasia ... ORPHA:1972
Monosomy 18Q
Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Bilateral cryptorchidism,... ORPHA:1600
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Clitoral hy... OMIM:268310
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Microcephaly, Micrognathia, Abnormality of the dent... ORPHA:217340
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Proximal placement of thumb, Microcephaly, Secundum atrial septal defec... OMIM:619121
Momo Syndrome
Delayed eruption of teeth, Short stature, Cutis marmorata, Short neck, Thick lower lip vermilion,... ORPHA:2563
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Abnormal hip joint morphology, Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abno... ORPHA:1856
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Hypoplasi... ORPHA:1512
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Sh... OMIM:609945
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ... ORPHA:3258
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Pulmonary valve atresi... ORPHA:97360
Campomelic Dysplasia
Micrognathia, Short neck, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Mild microcephaly, Atrial septal defect, Micropenis, Thick upper lip vermilion, Hyposp... ORPHA:363444
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Depres... ORPHA:2256
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Cousin Syndrome
Micrognathia, Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous gen... OMIM:260660
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Porencephalic cyst, Anteriorly placed anus, Glossoptosi... OMIM:117650
Chromosome 9P Deletion Syndrome
Micrognathia, Short neck, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ... OMIM:158170
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... OMIM:142900
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... OMIM:256050
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Odontochondrodysplasia 1
Respiratory distress, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short pha... OMIM:184260
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Anteverted nares, Depre... ORPHA:2021
Ulbright-Hodes Syndrome
Respiratory distress, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phoco... ORPHA:3404
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, M... OMIM:134780
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small scrotum, Short philtrum, Short tibia, Micropenis, Patent foramen oval... OMIM:607143
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... ORPHA:141152
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, A... OMIM:600373
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Dep... ORPHA:2831
Autosomal Dominant Omodysplasia
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Micrognath... ORPHA:93328
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Everted upper lip vermilion, Sandal gap, Camptodactyly of finger, Joint hypermobil... OMIM:619951
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Microcephaly, Micrognathia, Dyspnea, Short neck, Depresse... ORPHA:1832
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Prominen... OMIM:210710
Turnpenny-Fry Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Prominent interphalangeal j... OMIM:618371
Catel-Manzke Syndrome
Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High p... OMIM:616145
Distal Duplication 5Q
Hypoplasia of the ulna, Short stature, Hypospadias, Craniosynostosis, Absent thumb, Microcephaly,... ORPHA:96097
Momo Syndrome
Delayed eruption of teeth, Cutis marmorata, Short neck, Thick lower lip vermilion, Dental maloccl... OMIM:157980
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundum atria... OMIM:612562
Agnathia-Otocephaly Complex
Respiratory distress, Wide nose, Micrognathia, Secundum atrial septal defect, Situs inversus tota... OMIM:202650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Fused teeth, High palate, Narrow chest, Thoracic dysplasia, M... OMIM:614091
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Microcephaly, Cleft upper lip, Cryptor... OMIM:264480
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Cleft hard palate, ... ORPHA:166016
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Syndactyly, Premature loss of permanent teeth, Broad hallux, Micrognathia... OMIM:212780
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Short metacarpal,... OMIM:211350
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Micrognathia, Multiple prenatal fractures, Cardiomegaly, Beaded ribs, Flexion contrac... OMIM:616897
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal mitr... ORPHA:1277
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... OMIM:227270
Thanatophoric Dysplasia, Type I
Short neck, Femoral bowing, Narrow chest, Neonatal death, Neonatal respiratory distress, Small ab... OMIM:187600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Abnormality of the philtrum, Microcephaly, Abnormality of the d... ORPHA:3268
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... OMIM:143095
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Death in childhood, Progressive alv... OMIM:252500
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Shor... ORPHA:166272
Arthrogryposis, Distal, Type 1C
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... OMIM:619110
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density,... ORPHA:2370
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Redundant skin, Redundant neck skin, Micrognat... OMIM:300855
Non-Distal Duplication 10Q
Short stature, Depressed nasal bridge, Microcephaly, Micrognathia, Cryptorchidism, Pectus excavat... ORPHA:1695
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoul... OMIM:274000
Alagille Syndrome
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Telangiectasia of the sk... ORPHA:52
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Meier-Gorlin Syndrome 7
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Atrial se... OMIM:617063
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Micr... OMIM:616716
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Cutis marmorata, Microcephaly, Secundum atrial septal defect, Broad nasal tip, Bifid nasal tip, G... OMIM:619758
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Verheij Syndrome
Branchial cyst, Short neck, Hemivertebrae, Joint laxity, Vertebral fusion, Short stature, Antever... OMIM:615583
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Hem... OMIM:213980
Diastrophic Dysplasia
Abnormal clavicle morphology, Cerebral calcification, Proximal placement of thumb, Micrognathia, ... ORPHA:628
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single tran... ORPHA:508488
Nemaline Myopathy 9
Ventricular septal defect, Micrognathia, Cleft palate, Respiratory insufficiency, High palate, Na... OMIM:615731
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Single transvers... OMIM:269150
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue... OMIM:258850
Scarf Syndrome
Bifid scrotum, Craniosynostosis, Short neck, Cryptorchidism, Wide nasal base, Abnormal form of th... ORPHA:3134
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Micrognathia, Short n... ORPHA:263508
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Microcephaly, Micrognathia, C... OMIM:619343
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Limited elbow movement, Abnormal metatarsal morphology, Abnorma... OMIM:127300
Leopard Syndrome 1
Mandibular prognathia, Limited elbow movement, Short neck, Depressed nasal ridge, Pectus carinatu... OMIM:151100
Pallister-Hall Syndrome
Hemivertebrae, Anteriorly placed anus, Neonatal death, Micropenis, Distal shortening of limbs, Sy... OMIM:146510
Perching Syndrome
Respiratory distress, Cyanosis, Depressed nasal bridge, High palate, Scoliosis, Camptodactyly, Jo... OMIM:617055
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener... ORPHA:508498
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Absent radius, Elb... OMIM:171480
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Symphalangism affecting the phalanges of the ha... ORPHA:2990
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Cryptorchidism, F... OMIM:612447
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Depressed nasal bridge, Broad nasal tip, Wide ... OMIM:222448
Bartsocas-Papas Syndrome 1
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Short neck, Flexion contractur... OMIM:263650
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Short neck, Cleft palate... ORPHA:2015
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Exaggerated cupid's bow, Ventricular septal defect, Depressed nasal bridge, Micro... ORPHA:261120
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular septal defect, Pr... ORPHA:93267
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Death in infancy, Depressed nasal bridge, Rocker bottom foot, Microcephaly, Micrognathia, Cryptor... OMIM:618766
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... ORPHA:280
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Thin upper lip vermilion, Wide nose, Micrognathia, Downturned corners of ... OMIM:615162
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... OMIM:101400
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Thin upper lip vermilion, Wide nose, Micrognathia, Everted lower lip verm... ORPHA:357175
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ... OMIM:615398
3C Syndrome
Hypoplasia of penis, Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial clef... ORPHA:7
Arboleda-Tham Syndrome
Mandibular prognathia, Respiratory distress, Bilateral cryptorchidism, Secundum atrial septal def... OMIM:616268
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Pierre-Robin sequence... OMIM:620183
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Growth delay, Short foot, Aplasia... ORPHA:52056
Snijders Blok-Campeau Syndrome
Joint laxity, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, P... OMIM:618205
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Po... OMIM:263750
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the philtrum, Micromelia, Microcep... ORPHA:1597
Coffin-Siris Syndrome 1
Single transverse palmar crease, Conical tooth, Partial agenesis of the corpus callosum, Prominen... OMIM:135900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Ag... OMIM:613091
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... OMIM:200980
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Postnatal growth retardation, Secundum at... OMIM:620242
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pon... OMIM:619909
Scarf Syndrome
Bifid scrotum, Barrel-shaped chest, Prominent nasal bridge, Short neck, Cryptorchidism, Wide nasa... OMIM:312830
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ... OMIM:617140
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Down Syndrome
Redundant neck skin, Single transverse palmar crease, Short palm, Atrial septal defect, Hypoplast... OMIM:190685
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Microcephaly, Secundum atrial septal defect, High, narrow palat... ORPHA:1439
Chromosome 3Pter-P25 Deletion Syndrome
Micrognathia, Downturned corners of mouth, High palate, Atrioventricular canal defect, Short stat... OMIM:613792
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Hemivert... OMIM:173800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed a... ORPHA:95699
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Short stature, Hypoplastic scapulae, Redundant neck skin... ORPHA:93333
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Thin upper lip vermilion, Cerebral white matter atrophy, Death in infancy, ... OMIM:615042
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Prominent nasal bridge, Secundum atrial septal defect, Cryptorchidism, Partial agene... OMIM:618109
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... ORPHA:3320
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Van Bogaert-Hozay Syndrome
Depressed nasal bridge, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth malp... OMIM:277150
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Narrow chest, Anis... ORPHA:1865
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Craniosynostosis, Micrognathia, Pyloric stenosis, Rib fusion, Cleft palate, Abnorma... ORPHA:261197
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Cardiomegaly, Short neck, Delayed epiphyseal ossification, Deep philtrum, Tachypnea, ... OMIM:613320
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... OMIM:251450
Tetrasomy 9P
Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High palate, Short philtr... ORPHA:3310
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion... ORPHA:536516
Heart Defects-Limb Shortening Syndrome
Death in infancy, Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shor... ORPHA:1354
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, ... ORPHA:79107
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Redundant neck skin, Proximal placement of thumb, Micrognathia, Short neck,... OMIM:217980
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Neonatal respiratory distress, Multiple prenatal fractures, Secundum atrial se... OMIM:616866
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atrial septal defect, Pa... OMIM:618870
Brachydactyly Type A1
Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys... ORPHA:93388
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Atrial septal def... ORPHA:79345
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Periventricular cysts, Orofacial cleft, Abnormal f... OMIM:194190
Orofaciodigital Syndrome Type 3
Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit... ORPHA:2752
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Pectus carinatum, Vertebral segmentation def... OMIM:312870
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Short stature, Depressed nasal bridge, Microcephaly, Abnormality of... OMIM:615802
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Hypoplasia of... OMIM:609813
C Syndrome
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Sh... OMIM:211750
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Short stature, Micromelia, Microcephaly, Postaxial hand polyd... ORPHA:2491
Seckel Syndrome 1
Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Selective tooth ag... OMIM:210600
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Single transverse palmar crease, Premature thelarche, Micr... OMIM:180849
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Severe short stature, Rhizomelia, Short femur, Hypoplasia of the femoral head, Wid... OMIM:619598
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, Microcephaly, Postnatal growth retard... OMIM:272440
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Short stature, Median cleft lip, Micromelia, Microcephaly, Micr... OMIM:241800
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... OMIM:265000
Omodysplasia 1
Micrognathia, Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, I... OMIM:258315
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Absent radius, Micrognathi... ORPHA:1352
Spondylocostal Dysostosis 4, Autosomal Recessive
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Short neck, Hemive... OMIM:613686
Moebius Syndrome
Respiratory distress, Abnormal nasopharynx morphology, Micrognathia, Short neck, Hypoplasia of th... OMIM:157900
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l... ORPHA:1423
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Se... OMIM:151210
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Short stature, Microcephaly, Broad nasal tip, Pectus excavatum, Wide nasal bridge, Growth delay, ... ORPHA:73273
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Downturned corner... ORPHA:1327
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Short neck, Flexion contracture, Downturned corners ... OMIM:264090
Diamond-Blackfan Anemia 21
Hallux valgus, Short stature, Sandal gap, Cutis marmorata, Tapered finger, Microcephaly, Preaxial... OMIM:620072
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Syndactyly, Respiratory distress, Ventricular septal defect, Depressed nas... OMIM:617895
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr... OMIM:617201
Juberg-Hayward Syndrome
Wide nose, Severe short stature, Toe syndactyly, Hypospadias, Microcephaly, Short thumb, Hypoplas... ORPHA:2319
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Cryptorchidism, Kyphosis, Wide na... OMIM:618393
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Ectodermal dysplasia... OMIM:218330
Intellectual Developmental Disorder, Autosomal Recessive 72
Thin upper lip vermilion, Narrow nasal base, Wide nasal ridge, Prominent nose, Secundum atrial se... OMIM:618665
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Downturned corners of mouth, High palate, Narrow chest, Thoracic kyphos... ORPHA:163649
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Cerebral white matter atrophy, Multiple joint contractures, Short neck, Sec... ORPHA:99646
Yunis-Varon Syndrome
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Redund... OMIM:216340
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... ORPHA:457395
Cornelia De Lange Syndrome 5
Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of mouth, High palate, ... OMIM:300882
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Premature... OMIM:113620
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Short neck, Cryptorchidism, Perimembranous ventricular septal defect, Protein-l... OMIM:608104
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Short neck, Simplified gyral pattern, Narrow chest, Neonatal death, Sho... OMIM:251230
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi... OMIM:614399
Pierpont Syndrome
Short neck, Widely spaced teeth, Short palm, Prominent fingertip pads, Micropenis, Short stature,... OMIM:602342
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Prominent superficial... ORPHA:75508
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Thin upper lip vermilion, Sacral dimple, Short stature, Single transverse palmar cr... OMIM:613544
W Syndrome
Hypoplasia of the ulna, Broad uvula, Radial bowing, Depressed nasal bridge, Broad nasal tip, Meta... ORPHA:2804
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Agenesis of cerebellar vermis, Apnea, Opti... OMIM:609069
Femur-Fibula-Ulna Complex
Finger syndactyly, Short humerus, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... ORPHA:2019
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Joint stiffness... ORPHA:969
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Long philtrum, ... OMIM:616331
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Short neck, Hip dislocation,... OMIM:618395
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Occipital Horn Syndrome
Redundant skin, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joint laxity, Pelvic bon... OMIM:304150
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly,... OMIM:300577
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Cyanosis, Single transverse palmar crease, Microcepha... ORPHA:3304
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Short stature, Camptodactyly of finger, Microcephaly, Micrognathia, Recurrent p... ORPHA:1495
Hydrolethalus Syndrome 1
Micrognathia, Agenesis of corpus callosum, Dandy-Walker malformation, Hypospadias, Absent septum ... OMIM:236680
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Thin upper lip vermilion, Slender nose, Microcephaly, ... OMIM:615419
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Short stature, Intervertebral space narrowing, Micrognathia, ... OMIM:614078
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Rocker bottom foot, Ventricular septal defect, Microcephaly, Anteverted ... OMIM:618506
Neuralgic Amyotrophy
Scapular winging, Short stature, Cleft palate, Respiratory insufficiency, Narrow mouth, Sprengel ... ORPHA:2901
Eng-Strom Syndrome
Short stature, Camptodactyly of finger, Ventricular septal defect, Pectus excavatum, Arthritis, A... ORPHA:1937
Aicardi Syndrome
Partial agenesis of the corpus callosum, Short philtrum, Aplasia/Hypoplasia of the cerebellum, Pa... ORPHA:50
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Short stature, Ventricular septal defect, Joint stiffness, Microcephaly, Cryptorchidism, Microgna... ORPHA:1166
Halperin-Birk Syndrome
Micrognathia, Flexion contracture, Hip dislocation, Optic atrophy, Aspiration, Perimembranous ven... OMIM:618651
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Osebold-Remondini Syndrome
Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,... OMIM:112910
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Joint stiffnes... ORPHA:2635
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metatarsal, Widely spaced teeth, Narrow chest, Short phalanx of finge... OMIM:617102
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Abnormality o... ORPHA:84
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Cerebellar vermis hypoplasia, Tented upper lip vermilion, Flexion contractu... OMIM:619383
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve... ORPHA:2631
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Single transverse palmar crease, Microcephaly, Peri... OMIM:612541
Mental Retardation Syndrome, Mietens-Weber Type
Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, Absent proxi... OMIM:249600
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Hypoplastic labia minora, Abnormal tibia morphology, Rib ... ORPHA:64755
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... OMIM:314390
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Short neck, Flexion contracture, High palate, Atrial septal defect, Short stature, Tapered finger... OMIM:617452
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Micrognathia, Prominent fingertip pads, Short stature, Cleft soft palate, ... OMIM:618529
Cerebrofaciothoracic Dysplasia
Wide nose, Cerebellar vermis hypoplasia, Short stature, Cleft upper lip, Short neck, Rib fusion, ... ORPHA:1394
Paternal Uniparental Disomy Of Chromosome 5
Kyphoscoliosis, Secundum atrial septal defect, Rhizomelic arm shortening, Abnormal fibular epiphy... ORPHA:96190
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Long nose, Downturned corners of mouth, High palate, Atrial septal defect, Clino... OMIM:617602
Fetal Trimethadione Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Depressed nasal bridge, Microcephal... ORPHA:1913
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... ORPHA:3472
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodactyly of the ... OMIM:614701
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Papilledema, Thickened ribs, Short stature, Dep... OMIM:122860
8P23.1 Microdeletion Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Enlarged thorax, High palate, Biparietal n... ORPHA:251071
Rhizomelic Syndrome, Urbach Type
Micrognathia, Short neck, Abnormal form of the vertebral bodies, High palate, Triphalangeal thumb... ORPHA:3098
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Anteverted nares, Micrognathia, Promin... ORPHA:1703
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... ORPHA:2790
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Transposition ... OMIM:619910
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth, Dry... OMIM:218650
Achondrogenesis Type 1B
Severe short stature, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathi... ORPHA:93298
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Microcephaly, Tapered finger, Short finger, Death in childhood, Acrocyanosis OMIM:302000
Lujan-Fryns Syndrome
Atrial septal defect, Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hyp... ORPHA:776
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... ORPHA:246
Recombinant Chromosome 8 Syndrome
Micrognathia, Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, ... OMIM:179613
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... ORPHA:2141
2Q32Q33 Microdeletion Syndrome
Dental crowding, Micrognathia, Oligodontia, High palate, Clinodactyly of the 5th finger, Broad ha... ORPHA:251019
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Death in infancy, Antever... OMIM:616809
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Severe short stature, Block vertebrae, Short statu... OMIM:277300
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Joint stiffness, Micrognathia, Missin... ORPHA:1801
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Long nose, Oligodontia, Short palm, Atrial septal defect, Patent foramen ovale, ... OMIM:619184
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... OMIM:617061
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Microcephaly, Micrognathia, Cryptorchidism, ... OMIM:611890
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ... OMIM:306955
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Anteverted nares, Recurrent fractures, Micromelia, ... ORPHA:93299
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias, Micrognathia, Microcephaly, Wide mouth, Widely spaced teeth, H... OMIM:300934
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Aicardi Syndrome
Cerebellar vermis hypoplasia, Proximal placement of thumb, Partial agenesis of the corpus callosu... OMIM:304050
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, External genital hypoplasia, Convex nasal ridge, Micrognathia, Short... ORPHA:251028
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Prom... OMIM:612474
Diaphanospondylodysostosis
Respiratory distress, Absent in utero ossification of vertebral bodies, Micrognathia, Short neck,... OMIM:608022
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral calcification, Microcephaly, Secundum atrial septal... OMIM:617397
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Diffuse cerebral atrophy, Single transverse palmar crease, Micrognathia, Ch... ORPHA:83617
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Pierpont Syndrome
Short neck, Widely spaced teeth, Prominent fingertip pads, Joint laxity, Cryptorchidism, Short to... ORPHA:487825
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... ORPHA:392
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Short stature, Anteverted nares, Carious teeth, Cryptorc... ORPHA:2701
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... OMIM:154400
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Meier-Gorlin Syndrome 1
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flexion con... OMIM:224690
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Microcephaly, Cryptorchidism,... ORPHA:3434
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate OMIM:607371
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Narrow chest, Short phalanx of finger, B... ORPHA:56304
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Micrognathia, High, narrow palate, Large iliac wing, Spina bifida occulta... ORPHA:2780
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Short stature, Depressed nasal bridge, Optic atrophy, Wide nasal bridg... ORPHA:1513
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Atrial septal defect, ... OMIM:615582
Kniest Dysplasia
Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu... OMIM:156550
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Severe short stature, Joint stiffness, Metatarsus adductus, Co... ORPHA:2557
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m... OMIM:156510
Distal Duplication 18Q
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Microgn... ORPHA:1716
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Respiratory distress, Wide nose, Cerebral calcification, Rocker bottom foot, 4... ORPHA:89844
Tetrasomy 5P
Respiratory distress, Redundant neck skin, Micrognathia, Short neck, High palate, Clinodactyly of... ORPHA:3309
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Anteverted nares, Microcephaly, Precocious puberty, Micrognathia, Narrow mo... OMIM:619356
Osteogenesis Imperfecta, Type X
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... OMIM:613848
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... OMIM:114300
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... ORPHA:2878
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate... OMIM:249710
Ulna Hypoplasia-Intellectual Disability Syndrome
Broad hallux phalanx, Hypoplasia of the ulna, Severe short stature, Micromelia, Joint stiffness, ... ORPHA:2249
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Anteverted nares, Cutis marmorata, Protruding tongue, Short neck, Cryp... OMIM:612938
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Overlapping toe, Short stature, External genital hypoplasia, Microc... OMIM:600118
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Pulmonary arterial hyperten... OMIM:619751
Insulin-Like Growth Factor I, Resistance To
Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Long philtrum, Short statu... OMIM:270450
Kbg Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Epispadias, Widely-space... OMIM:148050
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common... OMIM:619143
Ulnar-Mammary Syndrome
Deformed radius, Small scrotum, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Apl... OMIM:181450
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Short stature, Abnormal ... ORPHA:1458
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Hypoplasia of the ulna, Short stature, Bicuspid aortic valve, Absent thum... OMIM:614900
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... ORPHA:536467
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Short stature, Anteverted nares, Limited elbow movement, Proximal place... OMIM:300590
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Reduced bone mi... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Reduced bone mi... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Reduced bone mi... ORPHA:99226
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Reduced bone mi... ORPHA:881
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Neonatal respiratory distress,... OMIM:618961
Orofaciodigital Syndrome Type 5
High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... ORPHA:2919
Microcephaly-Capillary Malformation Syndrome
Wide nose, Short stature, Ventricular septal defect, Hypoplasia of the maxilla, Short nose, Optic... OMIM:614261
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Brachydactyly, Thin upper lip vermilion, Ve... ORPHA:401935
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Nicolaides-Baraitser Syndrome
High, narrow palate, Abnormal finger morphology, Short palm, Thick nasal alae, Anteverted nares, ... ORPHA:3051
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal ch... ORPHA:163966
Ruvalcaba Syndrome
Dental crowding, Proximal placement of thumb, Micromelia, Pectus carinatum, Narrow chest, Clinoda... ORPHA:3121
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Anteverted nares, Craniosynostosis, Microg... ORPHA:171839
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bo... ORPHA:40
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Atr... OMIM:268300
Auriculocondylar Syndrome 2A
Respiratory distress, Dental crowding, Apnea, Micrognathia, Narrow mouth, Mandibular condyle apla... OMIM:614669
Distal Deletion 1Q
Short stature, Depressed nasal bridge, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the corp... ORPHA:36367
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Short neck, D... OMIM:618622
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnorma... ORPHA:2145
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Short neck, Downturned corners of mouth, Hypoplasia of the brainstem, Oligodontia, ... ORPHA:391408
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Short stature, Joint stiffness, Micrognathia, Whistling appearance, Abnormality of the nose, Pier... ORPHA:1150
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Knee flexion con... OMIM:271665
Bone Dysplasia, Lethal Holmgren Type
Redundant neck skin, Micromelia, Short neck, Depressed nasal ridge, Abnormal femur morphology, Na... ORPHA:1842
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Micrognathia, Broad nasal tip, Cryptorchidism,... OMIM:615524
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Prominent nose, Short philtrum, Atrial septal defect, Patent foramen oval... OMIM:618316
Congenital Disorder Of Glycosylation, Type Ie
Smooth philtrum, Respiratory distress, Depressed nasal bridge, Ankle flexion contracture, Microgn... OMIM:608799
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Short stature, Rhizomelia, Craniosynostosis, Micrognathia, Mic... ORPHA:93329
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... OMIM:305400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Noncompaction cardiomyopathy, Short s... ORPHA:508542
Pallister-Hall Syndrome
Small scrotum, Depressed nasal ridge, Hemivertebrae, Atrial septal defect, Micropenis, Atrioventr... ORPHA:672
Charge Syndrome
External genital hypoplasia, Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septa... OMIM:214800
Pelvis-Shoulder Dysplasia
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Short stature, Lumbar hyperlordosis,... OMIM:169550
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... ORPHA:1143
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans... ORPHA:536471
Ruvalcaba Syndrome
Short metacarpal, Short stature, Dental crowding, Micromelia, Microcephaly, Underdeveloped nasal ... OMIM:180870
Achondroplasia
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... OMIM:100800
Peho-Like Syndrome
Tapered finger, Short nose, Optic atrophy, Retrognathia, Lissencephaly, Hypoplasia of the corpus ... OMIM:617507
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Overlapping fingers, Overlapping toe, Hypoplastic right heart, Postaxial po... OMIM:618142
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Fused labia minora, Secundum ... OMIM:608688
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Short neck, High palate, Atrial septal defect, Short sta... ORPHA:505237
Congenital Disorder Of Glycosylation, Type Ik
Death in infancy, Microcephaly, Micrognathia, Flexion contracture, Cerebral atrophy, Cardiomyopat... OMIM:608540
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short stature, Ventricular septal defect, Proximal placement of thumb, Micr... OMIM:610536
Autism Spectrum Disorder Due To Auts2 Deficiency
Prominent nasal tip, Short stature, Decreased palmar creases, Anteverted nares, Microcephaly, Mic... ORPHA:352490
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Dysplastic corpus callosum, Cryptorchidism, Perimembranous ventricular... OMIM:620135
Ritscher-Schinzel Syndrome 1
Anal atresia, Syndactyly, Hypospadias, Ventricular septal defect, Depressed nasal bridge, Microgn... OMIM:220210
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Atrial septal defect, Tapered finger, Bilateral cryptorchidism, High, narrow palat... ORPHA:485405
Congenital Heart Defects And Ectodermal Dysplasia
Anteverted nares, Depressed nasal bridge, Premature loss of primary teeth, Microcephaly, Prominen... OMIM:617364
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Hip dysplasia, Thin vermilion bor... OMIM:617991
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Abnormality of the philtrum, Arachnodactyly, Aplasia/Hypoplasia of the tong... ORPHA:2759
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... ORPHA:2180
Achondrogenesis
Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossificatio... ORPHA:932
Diamond-Blackfan Anemia 1
Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Na... OMIM:105650
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Cerebral white matter atrophy, Proximal placement of thumb, Micrognathia, ... ORPHA:435638
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly of the 5... OMIM:607872
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Disproportionate short-trunk short stature, Hemiverte... OMIM:608681
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Downturned corners of mouth, ... ORPHA:500150
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Hypospadias, Short l... OMIM:619479
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... OMIM:255800
Fetal Alcohol Syndrome
Thin upper lip vermilion, Atrial septal defect, Short stature, Anteverted nares, Joint stiffness,... ORPHA:1915
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Myhre Syndrome
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ... ORPHA:2588
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Micrognathia, Short neck, Short palm, Clinodactyly of the 5th finge... OMIM:620073
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Recurrent fractures, Microme... ORPHA:2772
Stuve-Wiedemann Syndrome 1
Apnea, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contracture, Femor... OMIM:601559
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... OMIM:183900
Toriello-Carey Syndrome
Micrognathia, Short neck, Partial agenesis of the corpus callosum, Anteriorly placed anus, High p... ORPHA:3338
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Bilateral single transverse palmar creases, Ventricular septal defect, Joint stiffness, Microceph... ORPHA:2516
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short neck, Short thorax, Cleft palate, Narrow pelvis bone, E... ORPHA:66637
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Arachnodactyly, Short stature, Micrognathia, Microcephaly, Bulbous nose, Wide n... ORPHA:93946
Renpenning Syndrome
Mandibular prognathia, Prominent nose, High, narrow palate, Short philtrum, Clinodactyly of the 5... ORPHA:3242
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Mitral valve prolapse, Joint hyperflexib... ORPHA:90653
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Depressed nasal bridge, Micromelia, Micrognathia, Sho... ORPHA:3015
Feingold Syndrome 2
Short stature, Ventricular septal defect, Postnatal growth retardation, Short thumb, Short middle... OMIM:614326
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... OMIM:618363
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Anisospondyly, Short stature, Short thorax, Abnormal rib morphology, ... ORPHA:2484
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, Hypoplasia of the b... OMIM:193700
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Celiac disease, Dysplastic corpus callosum, Bilateral... ORPHA:544488
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Filippi Syndrome
Enlarged epiphyses, Short philtrum, Clinodactyly of the 5th finger, Broad columella, Bilateral si... ORPHA:3255
Feingold Syndrome Type 2
Toe syndactyly, Jejunal atresia, Short stature, Ventricular septal defect, Microcephaly, Short th... ORPHA:391646
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th... OMIM:613026
Ellis-Van Creveld Syndrome
Epispadias, Pectus carinatum, Ectodermal dysplasia, Narrow chest, Hypoplastic iliac wing, Atrial ... OMIM:225500
Shox-Related Short Stature
Short stature, Micrognathia, Short neck, Madelung deformity, Tibial bowing, Short foot, Genu valg... ORPHA:314795
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Thin upper lip vermilion, Cerebral white matter atrophy, Respiratory distress, Extern... ORPHA:329178
Non-Distal Duplication 13Q
Arachnodactyly, Microcephaly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Abnormali... ORPHA:1702
19P13.3 Microduplication Syndrome
Micrognathia, Prominent nose, Short philtrum, Intrauterine growth retardation, Precocious puberty... ORPHA:447980
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Short neck, Bifid nasal tip, Dysplastic corpus callos... OMIM:616854
Otospondylomegaepiphyseal Dysplasia
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... ORPHA:1427
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Short statur... OMIM:239000
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Short neck, Clinodactyly, Downturned corners of mouth, High palate, Widely... ORPHA:369891
Craniofaciofrontodigital Syndrome
Osteopenia, Respiratory distress, Bicuspid aortic valve, Cardiomegaly, Pectus carinatum, Finger j... ORPHA:363705
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft... ORPHA:2345
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Cleft lip, Short meta... ORPHA:217017
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Short stature, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mo... ORPHA:261295
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Short stature, Abnormal femoral neck morphology, Micromelia, Hy... ORPHA:63446
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Short stature, Optic nerve hypoplasia, Hypogonadotropic hy... OMIM:206900
Lowry-Maclean Syndrome
Osteopenia, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, High, narrow... ORPHA:2409
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove... OMIM:619793
Burn-Mckeown Syndrome
Mandibular prognathia, Short stature, Ventricular septal defect, Choanal atresia, Micrognathia, C... OMIM:608572
Orofaciodigital Syndrome Type 10
Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... ORPHA:2756
Coffin-Siris Syndrome 6
Short stature, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Broad nasal tip, High, narro... OMIM:617808
Roifman Syndrome
Single transverse palmar crease, Downturned corners of mouth, Irregular vertebral endplates, Clin... OMIM:616651
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Congenital malformation of the left heart, Wide penis, Downturned corners of mouth, H... ORPHA:3455
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,... OMIM:619980
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Microgna... ORPHA:2872
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Microcephaly, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose, Delayed ... ORPHA:2598
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp... OMIM:201000
Mucopolysaccharidosis Type 4
Short neck, Reduced bone mineral density, Pectus carinatum, Short stature, Abnormal dental enamel... ORPHA:582
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas... ORPHA:1788
Neurofibromatosis-Noonan Syndrome
Pectus excavatum of inferior sternum, Short stature, Depressed nasal bridge, Short neck, Cubitus ... OMIM:601321
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Tetralogy Of Fallot
Abnormal nasal morphology, Cryptorchidism, Thin vermilion border, Clinodactyly of the 5th finger,... ORPHA:3303
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Triphalangeal thumb, Vertebral fusion, Hypoplasia of the ulna, Fin... ORPHA:959
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Pycnodysostosis
Obtuse angle of mandible, Abnormal clavicle morphology, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:763
Teebi Hypertelorism Syndrome 1
Natal tooth, Thin upper lip vermilion, Short stature, Dental crowding, Sagittal craniosynostosis,... OMIM:145420
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Joint laxity, Scapular winging, Microcephaly, Micrognathia, Hyperlordosis, Depressed nasal ridge,... OMIM:600462
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Short stature, Single transverse palmar crease, Anteverted nares, Micro... OMIM:613604
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Oculocerebrofacial Syndrome, Kaufman Type
Smooth philtrum, Respiratory distress, Arachnodactyly, Microcephaly, Micrognathia, High, narrow p... ORPHA:2707
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of ... OMIM:616894
Stickler Syndrome, Type I
Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Anteverted nares, Depressed nasal brid... OMIM:108300
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Short stature, Facial palsy, Micrognathia, Respiratory insufficiency due to... OMIM:300580
Prader-Willi Syndrome Due To Translocation
Respiratory distress, External genital hypoplasia, Micrognathia, Prominent nose, Short neck, Down... ORPHA:177907
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Depressed... OMIM:300863
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect, Jaundice, Epiphyseal stippling, Glossoptosis OMIM:614876
Microcephaly-Cardiomyopathy Syndrome
Sandal gap, Short stature, Ventricular septal defect, Microcephaly, High, narrow palate, Dilated ... ORPHA:2515
Fanconi Anemia, Complementation Group I
Short stature, Absent septum pellucidum, Optic nerve hypoplasia, Absent thumb, Microcephaly, Shor... OMIM:609053
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Long philtrum, Short ... OMIM:212066
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow ... ORPHA:2554
Thanatophoric Dysplasia
Atrial septal defect, Depressed nasal bridge, Redundant skin, Micromelia, Joint stiffness, Abnorm... ORPHA:2655
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Shor... ORPHA:96148
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Narrow chest, Microdont... ORPHA:289
Clark-Baraitser Syndrome
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Anteverted nares, Microcephaly, De... OMIM:617752
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Desbuquois Syndrome
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Anteverted nares, Coxa ... ORPHA:1425
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... ORPHA:251014
Fibrochondrogenesis 2
Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w... OMIM:614524
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Sacral dimple, Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced ... OMIM:608227
Hall-Riggs Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Anteverted nares, Jo... ORPHA:2107
Suleiman-El-Hattab Syndrome
Microretrognathia, Optic disc pallor, Thin upper lip vermilion, Ventricular septal defect, Single... OMIM:618950
Kbg Syndrome
Single transverse palmar crease, Short neck, Congenital malformation of the left heart, Finger cl... ORPHA:2332
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, External genital hypoplasia, Redundant skin, High, narrow palate, Epispadi... ORPHA:2658
Emanuel Syndrome
Multiple joint contractures, Congenital hip dislocation, Dental crowding, Redundant neck skin, Mi... ORPHA:96170
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... ORPHA:193
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Microcephaly, Perimembranous ventricular septal defect, Perivent... OMIM:619170
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla... OMIM:309520
Kagami-Ogata Syndrome
Atrial septal defect, Long clavicles, Ventricular septal defect, Anteverted nares, Depressed nasa... OMIM:608149
Dysostosis, Stanescu Type
Cerebral calcification, Micromelia, Short neck, Hypoplasia of the maxilla, Increased bone mineral... ORPHA:1798
Meckel Syndrome, Type 8
Cleft upper lip, Microcephaly, Pericardial effusion, Short neck, Depressed nasal ridge, Cleft pal... OMIM:613885
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification... OMIM:271640
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Orofaciodigital Syndrome Type 2
Apnea, Micrognathia, Tachypnea, Finger clinodactyly, High palate, Short tibia, Atrioventricular c... ORPHA:2751
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... OMIM:215140
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Three M Syndrome 2
Short neck, Pectus carinatum, High palate, Intrauterine growth retardation, Scapular winging, Lum... OMIM:612921
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Wide nose, Sandal gap, Arachnodactyly, Short stature, Microcephaly, Dep... OMIM:616938
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Joubert Syndrome 18
Joint laxity, Trident pelvis, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricula... OMIM:614815
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High palate, Clinodact... OMIM:244450
Noonan Syndrome 13
Micrognathia, Short neck, Enlarged thorax, High palate, Widely spaced teeth, Atrial septal defect... OMIM:619087
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the... ORPHA:175
Fetal Minoxidil Syndrome
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Cryptorchidism, Clinodactyly of ... ORPHA:1918
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Sandal gap, Short stature, Microcephaly, Hypoplasia o... OMIM:300887
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro... OMIM:208500
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Grant Syndrome
Bowing of the long bones, Short stature, Depressed nasal bridge, Micrognathia, Open bite, Abnorma... ORPHA:2097
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Disproportionate... OMIM:122600
Wiedemann-Steiner Syndrome
Micrognathia, High palate, Clinodactyly of the 5th finger, Atrial septal defect, Short phalanx of... OMIM:605130
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Micrognathia, Promine... OMIM:609625
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Oculodentodigital Dysplasia
Mandibular prognathia, Abnormal clavicle morphology, Cerebral calcification, Micrognathia, Abnorm... ORPHA:2710
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Depressed nasal bri... OMIM:619736
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, E... OMIM:609052
Xq27.3Q28 Duplication Syndrome
Short stature, Cryptorchidism, Bulbous nose, Small hand, Short foot, Thin vermilion border, Hypog... ORPHA:261483
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Cerebral ca... ORPHA:1782
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Limb joint contracture, Depressed nasal bridge, Craniosynostosis, A... ORPHA:284417
Oculoauriculofrontonasal Syndrome
Pericallosal lipoma, Wide nose, Ventricular septal defect, Micrognathia, Microcephaly, Cleft lip,... ORPHA:398156
Fanconi Anemia, Complementation Group O
Death in infancy, Short stature, External genital hypoplasia, Proximal placement of thumb, Absent... OMIM:613390
Ulnar-Mammary Syndrome
Abnormal clavicle morphology, Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnorm... ORPHA:3138
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath... OMIM:620369
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Micrognathia, Prominent nose, Basal ganglia calcification, Flexion cont... OMIM:214150
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coron... OMIM:118651
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Anteverted nares, Depresse... ORPHA:404440
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... OMIM:618821
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Microc... ORPHA:276422
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Cryptorchidism, Short nose, Unilamb... OMIM:618577
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... OMIM:610759
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Ventricular septal defect, Single transverse palmar crease, Deep philtrum, Widely spa... OMIM:619717
Perlman Syndrome
Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, High, narrow palate, Short n... ORPHA:2849
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Acrofacial Dysostosis, Catania Type
Short palm, Clinodactyly of the 5th finger, Spina bifida occulta, Bilateral single transverse pal... ORPHA:1786
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Flexion contracture, Rec... ORPHA:391372
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Joint laxity, Short stature, Antever... OMIM:157800
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Short neck, Orofacial cleft, Micropenis, Pachygyria, Agenesis of corpus ca... OMIM:243310
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:94066
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones... OMIM:215045
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... OMIM:614868
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Short t... OMIM:609441
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Microcephaly, Hypoplasi... ORPHA:178303
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, High, narrow palate, Anteriorly placed anus, Right ventricular dilatation, ... OMIM:612863
Fumarase Deficiency
Relative macrocephaly, Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Anteverted... OMIM:606812
Recombinant 8 Syndrome
Small scrotum, Redundant skin, Micrognathia, Downturned corners of mouth, Abnormal sternum morpho... ORPHA:96167
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat... OMIM:155050
Short Stature-Micrognathia Syndrome
Joint laxity, Small scrotum, Rhizomelia, Short stature, Penoscrotal hypospadias, Bowing of the le... OMIM:617164
Abruzzo-Erickson Syndrome
Toe syndactyly, Short stature, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Cleft... ORPHA:921
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalange... ORPHA:3201
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, Hemivertebrae, Finger clinodactyly, Hi... ORPHA:99776
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... OMIM:608670
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Encephalomal... ORPHA:354
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Prominent nose, Atrial septal defect, Bifid uvula, Dandy-Walker malformatio... OMIM:300968
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Overriding aorta, Micr... ORPHA:3186
Tonne-Kalscheuer Syndrome
Decreased testicular size, Short stature, Hypospadias, Prominent nasal bridge, Microcephaly, Micr... OMIM:300978
Bohring-Opitz Syndrome
Micrognathia, Flexion contracture, Hypoplasia of the brainstem, Atrial septal defect, Agenesis of... OMIM:605039
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, High palate, Short tibia, Vertebral hypoplasia, Ab... ORPHA:56305
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Neonatal respiratory distress, Short stature, Intest... ORPHA:457193
1P36 Deletion Syndrome
Hypoplasia of penis, Depressed nasal ridge, Clinodactyly of the 5th finger, Agenesis of corpus ca... ORPHA:1606
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the ... ORPHA:818
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar int... OMIM:271510
Trisomy 13
High, narrow palate, Narrow chest, Atrial septal defect, Intrauterine growth retardation, Bilater... ORPHA:3378
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Short stature, Micromelia, Anteverted nares, Genu valgum, Joint hyper... ORPHA:1035
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, External genital hypoplasia, Patellar hypoplasia, High p... ORPHA:3041
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Meningeal calcification, Clinodactyly ... OMIM:154780
Desmosterolosis
Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Increased bone mi... ORPHA:35107
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Respiratory distress, Hypospadias, Unilateral cryptorchidism, Bi... OMIM:300219
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Short stature, Short neck, Pectus excavatum, Cleft lip, Deep ... OMIM:618571
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Ventric... ORPHA:1908
Fg Syndrome Type 1
Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Generalized joint... ORPHA:93932
17Q23.1Q23.2 Microdeletion Syndrome
Patellar hypoplasia, Congenital contracture, Widely spaced teeth, Atrial septal defect, Clinodact... ORPHA:261279
Intellectual Disability-Strabismus Syndrome
Micrognathia, Prominent nose, Short neck, High palate, Atrial septal defect, Micropenis, Agenesis... ORPHA:363528
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Microcephaly, Microgna... ORPHA:3078
Thoracomelic Dysplasia
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Prominent nose, Depressed nasa... OMIM:156200
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Reduced vital capacity, Cyanosis, Orthopnea, Facial palsy, Triceps weakn... ORPHA:98913
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... ORPHA:93351
Al Kaissi Syndrome
Thin upper lip vermilion, Sacral dimple, Short stature, Macrodontia, Depressed nasal bridge, Micr... OMIM:617694
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Micromelia, Microcephaly, Micrognathia, Cryptorch... OMIM:224410
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Pectus carinatum, High palate, Short... OMIM:616449
Musculocontractural Ehlers-Danlos Syndrome
Decreased palmar creases, Redundant skin, Cervical kyphosis, Generalized joint laxity, Abnormal s... ORPHA:2953
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Short neck, Pectus carinatum, Shou... OMIM:245600
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Ventricular septal defect, Prominent nasal bridge, Tapered finger, Bulbous... OMIM:613870
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... OMIM:616007
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Tapered finger, Decreased nerve conduction velocity, L... OMIM:218000
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, ... ORPHA:3082
Cooper-Jabs Syndrome
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ventricular se... ORPHA:1488
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Short neck, High, narrow palate, Abnormal peri... ORPHA:488632
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Prominent nose, Short neck, Downturned corner... OMIM:601808
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Anteverted nares, Depressed na... ORPHA:314655
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis... ORPHA:667
17P13.3 Microduplication Syndrome
Hypoplasia of penis, Congenital hip dislocation, Wide nose, Short neck, High palate, Hypoplasia o... ORPHA:217385
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Short stature, Accessory oral frenulum, Flexion contracture, Osteolysis involving bon... ORPHA:88630
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, Thoracolumbar kyphosis, Increased intervertebral... ORPHA:508533
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... OMIM:612350
Blomstrand Lethal Chondrodysplasia
Micrognathia, Narrow chest, Neonatal short-limb short stature, Distal shortening of limbs, Increa... ORPHA:50945
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Brachydactyly, Hypospadias, Anteverted nares, Malar flat... OMIM:614613
Rothmund-Thomson Syndrome
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Hypoplasia of th... ORPHA:2909
Maternal Uniparental Disomy Of Chromosome X
Short stature, Rocker bottom foot, Camptodactyly of finger, Microcephaly, Depressed nasal bridge,... ORPHA:261519
19P13.12 Microdeletion Syndrome
Short neck, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Finger syndactyly, ... ORPHA:254346
Cardiofaciocutaneous Syndrome
Redundant skin, Short neck, High palate, Biparietal narrowing, Atrial septal defect, Long philtru... ORPHA:1340
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Atrial septal defect, Short stature, Camptodactyly of finger, Exaggerat... ORPHA:261236
Carey-Fineman-Ziter Syndrome
Cerebral calcification, Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospadi... ORPHA:1358
Developmental And Epileptic Encephalopathy 89
Flexion contracture, Narrow chest, Death in childhood, Neonatal death, Long philtrum, Microretrog... OMIM:619124
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Cavum septum pellu... OMIM:247200
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebellar vermis hypoplasia, Small scrotum, Micrognathia, 2-3 toe cutaneous syndactyly, Short ph... OMIM:618454
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Atrial septal defect, Short stature, Kyphoscoliosis, Microcephaly, Hip dislocation, W... OMIM:618005
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Optic atrophy, Punctate ve... ORPHA:1914
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Prominent nose, Basal ganglia calcification, Flexion contracture, Premature graying... OMIM:256040
Kabuki Syndrome 2
Micrognathia, High palate, Atrial septal defect, Prominent fingertip pads, Atrioventricular canal... OMIM:300867
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia, Hypoplasia of the maxilla, Non-mi... ORPHA:245
Acrocephalopolydactyly
Short neck, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Thoracic hypopl... ORPHA:221054
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Short stature, Exaggerated cupid's bow, Depressed nasal bridge, Coxa ... OMIM:619833
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Short stature, Microcephaly, Abnormality of the dentition, Limitation of joint mobili... ORPHA:177
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina... OMIM:615777
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Micrognathia, Cleft upp... OMIM:612561
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Chromosome 1Q41-Q42 Deletion Syndrome
Tented upper lip vermilion, Deep philtrum, Vertebral segmentation defect, High palate, Short phil... OMIM:612530
Raine Syndrome
Mandibular prognathia, Cerebral calcification, Micromelia, Micrognathia, Short neck, High palate,... OMIM:259775
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Arachnodactyly, Dental crowding, Poor wound healing, Narrow mouth, Cerebral atrophy... OMIM:615539
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Downturned corners of mouth, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly... OMIM:220500
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Short stature, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Postnatal gro... ORPHA:3369
Seckel Syndrome 5
Selective tooth agenesis, Micrognathia, Simplified gyral pattern, Oligodontia, High palate, Clino... OMIM:613823
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Atrial septal defect, ... OMIM:618494
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Overlapping fingers, Overriding aorta, Ventricular septal defect,... OMIM:617022
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Hypoplasia of the brainstem, Abnormal periventricular white matter morphol... ORPHA:500159
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, Vertebral segmentati... ORPHA:453499
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Ventricular septal defect, Microcephaly, Cryptorchidis... ORPHA:2519
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Microcephaly, Micrognathia, Und... OMIM:616549
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... ORPHA:93296
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Abnormal external genitalia, Ventricular septal defect, Microc... ORPHA:3469
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal basal ganglia MRI signal intensity, Short humerus, Respiratory distress, Short femur, Hy... ORPHA:17
Presynaptic Congenital Myasthenic Syndromes
Joint laxity, Microretrognathia, Neuropathic spinal arthropathy, Congenital hip dislocation, Cyan... ORPHA:98914
Congenital Myasthenic Syndrome
Joint laxity, Microretrognathia, Neuropathic spinal arthropathy, Congenital hip dislocation, Cyan... ORPHA:590
Zellweger Syndrome
Micrognathia, High palate, Death in infancy, Short stature, Hypospadias, Depressed nasal bridge, ... ORPHA:912
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... ORPHA:1329
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Ambiguous genit... OMIM:618901
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... ORPHA:94068
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... ORPHA:561
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Apnea, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteo... OMIM:300373
Pitt-Hopkins Syndrome
Single transverse palmar crease, Short neck, Short metatarsal, Finger clinodactyly, Short philtru... ORPHA:2896
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... ORPHA:464738
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... OMIM:620107
Temple Syndrome
Relative macrocephaly, Decreased testicular size, Wide nose, Short stature, Anteverted nares, Dep... OMIM:616222
Micro Syndrome
Hypoplasia of penis, Cerebellar vermis hypoplasia, Micrognathia, Clitoral hypoplasia, High palate... ORPHA:2510
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Short stature, Single transverse palmar crease, Microcephaly, Micr... OMIM:618348
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee... OMIM:305620
Thanatophoric Dysplasia Type 1
Redundant skin, Micromelia, Femoral bowing, Narrow chest, Atrial septal defect, Depressed nasal b... ORPHA:1860
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Apnea, Single transverse palmar crease, Micrognathia, Pectus carinatu... OMIM:617527
Thanatophoric Dysplasia Type 2
Short stature, Depressed nasal bridge, Micromelia, Redundant skin, Kyphosis, Limitation of joint ... ORPHA:93274
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... OMIM:303600
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Temple-Baraitser Syndrome
Wide nose, Broad hallux, Depressed nasal bridge, Proximal placement of thumb, Adducted thumb, Dow... OMIM:611816
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Posterior rib fusion, Atrial septal ... OMIM:265380
Langer Mesomelic Dysplasia
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Mesomeli... ORPHA:2632
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Microdontia, A... OMIM:613458
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Short stature, Single transverse palmar crease, Microcephaly, Cryptorchidism, Clef... OMIM:615502
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... OMIM:616723
Temple-Baraitser Syndrome
Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas... ORPHA:420561
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Optic atrophy, Pectus carinatum, Hip dysplasia, Scoliosis, H... OMIM:617183
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Optic atrophy, Pectu... ORPHA:496790
Marden-Walker Syndrome
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Agenesis of co... ORPHA:2461
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Prominent nose, Lo... ORPHA:2636
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b... ORPHA:819
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Atrial septal defect, Mic... OMIM:609029
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Purpura, Anteverted nares, Depressed nasal bri... OMIM:608013
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Trisomy 18P
Short stature, Facial palsy, Microcephaly, Bilateral cryptorchidism, Pyloric stenosis, High, narr... ORPHA:1715
Neu-Laxova Syndrome
Osteopenia, Cerebral calcification, External genital hypoplasia, Micromelia, Micrognathia, Flexio... ORPHA:2671
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Wide nose, Cerebral calcification, Microcephaly, Pectus excavatum, Short ne... OMIM:617303
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Broad thumb, Smooth ph... OMIM:614526
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Thick nasal alae, Cleft soft palate, Abnormal preputium morphology, Prominent nose, Bulbous nose,... ORPHA:293725
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Perianal abscess, Cryptorchidism, Pericardial effusion, Pectus excavatu... OMIM:614684
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Pectus carinatum, Downturned corner... ORPHA:955
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Reduced cerebral white matter volum... OMIM:616638
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Short stature, Abnormal dental morphology, Microcephal... ORPHA:2522
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Tapered finger, Micrognathia, Narrow mouth, Partial agenesis of the corpus callosum, Short neck, ... OMIM:620250
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Redundant skin, Tibial bowing, Femoral bowing, Narrow chest, Neonatal death... OMIM:616482
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint laxity, Atrial septal defect, Arachnodactyly, Short stature, Micrognathia, Underdeveloped n... OMIM:300986
Ring Chromosome 10 Syndrome
Sandal gap, Aganglionic megacolon, Micrognathia, Tapered finger, Pectus excavatum, Short neck, Wi... ORPHA:1438
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Cleft upper lip, Flexion contracture... OMIM:312150
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Short stature, Anteverted nares, Depressed nasal bridge, Microcephaly,... OMIM:615866
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Thick nasal alae, Episodic tachypnea... ORPHA:163961
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia mo... ORPHA:2879
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Pectus excavat... OMIM:614753
20Q11.2 Microduplication Syndrome
Bifid scrotum, Tented upper lip vermilion, Pectus carinatum, Short palm, Clinodactyly of the 5th ... ORPHA:363659
Radio-Tartaglia Syndrome
Dental crowding, Micrognathia, High, narrow palate, High palate, Short philtrum, Agenesis of corp... OMIM:619312
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Joint laxity, Mandibular prognathia, Atrial septal defect, Arachnodactyly, Short stature, Postaxi... OMIM:619721
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Wide nose, Thoracic scoliosis, Left ve... ORPHA:79330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short stature, Microcephaly, Br... OMIM:614207
Contractural Arachnodactyly, Congenital
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Knee flexion contracture, Pectus car... OMIM:121050
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... OMIM:180700
3Q29 Microdeletion Syndrome
Hypospadias, Dental crowding, Prominent nasal bridge, Microcephaly, Tapered finger, Abnormality o... ORPHA:65286
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... ORPHA:3103
Frontoocular Syndrome
Prominent nasal bridge, Micrognathia, Pectus excavatum, Narrow philtrum, High palate, Pulmonic st... OMIM:605321
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Atrial septal defect, Spina bifida occulta... OMIM:150250
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Micrognathia, Cryptorchidi... OMIM:619123
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Epispadias, Abnor... ORPHA:3107
Genitopatellar Syndrome
Small scrotum, Apnea, Hypoplastic ischia, Micrognathia, Prominent nose, Knee flexion contracture,... ORPHA:85201
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Prominent nose, Coxa vara, Hypoplastic iliac wing, Atrial septal defect, Microdontia,... ORPHA:2637
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hal... OMIM:614749
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Aplasia/Hypoplasia of the distal phalanges o... ORPHA:1234
Marden-Walker Syndrome
Micrognathia, Short neck, High, narrow palate, Congenital contracture, Hypoplasia of the brainste... OMIM:248700
Potocki-Lupski Syndrome
Mandibular prognathia, Short stature, Dental crowding, Microcephaly, Micrognathia, Dental maloccl... OMIM:610883
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo... ORPHA:740
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po... ORPHA:79113
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Cerebral white matter atrophy, Tented upper lip vermilio... ORPHA:521426
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Pec... OMIM:115150
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... OMIM:608940
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Relative macrocephaly, Mandibular prognathia, Barrel-shaped chest, Rhizomelia, Lumb... OMIM:612813
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Microcephaly, Flexion contracture, Hip dysplasia, Hypoplasia of the corpus c... OMIM:618379
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... OMIM:608728
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Micromelia, Apnea, Flexi... OMIM:610015
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Angulated humerus, Bowing of the long bones, Microretrognathia, Short stature, Recurr... OMIM:616229
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers,... OMIM:620393
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilio... ORPHA:2429
Chromosome 14Q11-Q22 Deletion Syndrome
Micrognathia, Bilateral cryptorchidism, High palate, Pachygyria, Patent foramen ovale, Agenesis o... OMIM:613457
Coffin-Siris Syndrome
Simplified gyral pattern, Aspiration pneumonia, Atrial septal defect, Thick nasal alae, Agenesis ... ORPHA:1465
Warburg Micro Syndrome 3
Decreased testicular size, Small scrotum, Kyphoscoliosis, Microcephaly, Postnatal growth retardat... OMIM:614222
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... OMIM:300998
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Abnormal odontoid process morphology, Proportionate short stature, Cle... OMIM:609654
Waardenburg Syndrome Type 3
Narrow nasal bridge, Atrial septal defect, Tented upper lip vermilion, Camptodactyly of finger, J... ORPHA:896
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm... ORPHA:3429
Trisomy 10P
Micrognathia, Hemivertebrae, Simplified gyral pattern, Orofacial cleft, High palate, Abnormal hip... ORPHA:171929
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Short stature, Bowing of the legs, Pectus excavatum, Disproportionate short... ORPHA:156728
Diamond-Blackfan Anemia
Micrognathia, Short neck, High palate, Pallor, Triphalangeal thumb, Adenocarcinoma of the colon, ... ORPHA:124
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge, Thin vermilion... ORPHA:261304
Charlie M Syndrome
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Wide nasal brid... ORPHA:1406
Noonan Syndrome 2
Relative macrocephaly, Atrial septal defect, Short stature, Mitral stenosis, Ventricular septal d... OMIM:605275
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Hypospadias, Ventri... ORPHA:217346
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis, Genu varum, Abnormality... ORPHA:166002
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... OMIM:268305
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Tented upper lip vermilion, Single transvers... OMIM:619720
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Microcephaly, Precocious puberty, Cryptorchidism, Broad nasal tip, 2-3... ORPHA:3306
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Hippocampal atroph... ORPHA:353298
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... ORPHA:1225
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bilateral single transverse palmar creases, Bicuspid aortic valve, Proximal pla... ORPHA:1120
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... ORPHA:474
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Cutis Laxa, Autosomal Recessive, Type Iia
Dandy-Walker malformation, Congenital hip dislocation, Anteverted nares, Redundant skin, Microcep... OMIM:219200
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... ORPHA:1190
Jacobsen Syndrome
Micrognathia, Short neck, Flexion contracture, Clitoral hypoplasia, Atrial septal defect, Clinoda... OMIM:147791
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... ORPHA:235
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Pallor, Aspiration, Abnormal vertebral morphology, B... ORPHA:1199
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Severe short stature, Broad long bones, Micromelia, Micrognathia, Short... OMIM:224400
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, Prominent nose, High, narrow palate, Increased head circumference,... OMIM:300967
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Hypoplasia of the... OMIM:617604
Schwartz-Jampel Syndrome
Apnea, Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flex... ORPHA:800
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H... OMIM:234100
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Skraban-Deardorff Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's... OMIM:617616
Alkuraya-Kucinskas Syndrome
Small scrotum, Micrognathia, Hypoplasia of the brainstem, High palate, Micropenis, Dandy-Walker m... OMIM:617822
Mesoaxial Hexadactyly And Cardiac Malformation
Short stature, External genital hypoplasia, Ventricular septal defect, Hand polydactyly, Everted ... OMIM:249670
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Postnatal growt... ORPHA:96184
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finge... OMIM:235510
Bardet-Biedl Syndrome 16
Respiratory distress, Short stature, External genital hypoplasia, Hypogonadism, Polydactyly OMIM:615993
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Dental crowding, High palate, Microdontia, Broad ribs, Genu va... OMIM:269300
Kinsship Syndrome
Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Dow... OMIM:619297
Distal Deletion 3P
Sacral dimple, Short stature, Anteverted nares, Microcephaly, Micrognathia, Cryptorchidism, Posta... ORPHA:1620
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Anteverted nares, Short neck, Kyphosis, Partial agenesis of ... ORPHA:420794
Noonan Syndrome 11
Relative macrocephaly, Short stature, Depressed nasal bridge, Pectus excavatum, Bulbous nose, Thi... OMIM:618499
Oculodentodigital Dysplasia
Selective tooth agenesis, Basal ganglia calcification, High palate, Joint contracture of the 5th ... OMIM:164200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Dent... OMIM:608612
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Long... OMIM:258480
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, Short neck, High palate, Atrial septal defect, Clino... OMIM:612582
Trisomy 18
Atrial septal defect, Bilateral single transverse palmar creases, Microretrognathia, Short statur... ORPHA:3380
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Depressed na... OMIM:618590
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Broad nasal tip, Wide nasal b... OMIM:615716
Ritscher-Schinzel Syndrome 2
High palate, Short philtrum, Atrial septal defect, Clinodactyly of the 5th finger, Prominent fing... OMIM:300963
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Trigonocephaly With Short Stature And Developmental Delay
Short stature, Ventricular septal defect, Sagittal craniosynostosis, Wide nasal bridge, High pala... OMIM:314320
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, External genital hy... OMIM:615996
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Single transverse palmar crease, Downturned corners of mouth, Atrial septa... ORPHA:329224
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches... OMIM:616300
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ... OMIM:601812
Trisomy 20P
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do... ORPHA:261318
Zaki Syndrome
Wide nose, Toe syndactyly, Short stature, Cerebellar vermis hypoplasia, Anteverted nares, Microce... OMIM:619648
Craniofacioskeletal Syndrome
Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, B... OMIM:300712
Ohdo Syndrome
Joint laxity, Small scrotum, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathi... OMIM:249620
Cranioectodermal Dysplasia 4
Smooth philtrum, Short stature, Anteverted nares, Sagittal craniosynostosis, Pectus excavatum, Re... OMIM:614378
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Short lingual frenulum, Downturned corners of mouth, Short philtrum, Atrial ... OMIM:617360
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Short ribs, Absent or minima... OMIM:600972
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Arachnodactyly, Overlapping toe, Hypospadias, Micrognathia, Metatarsus addu... ORPHA:436003
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Cavum... OMIM:614008
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Redundant neck skin, Redundant skin, Generalized joint laxity, Promin... ORPHA:357074
Koolen-De Vries Syndrome
Bicuspid aortic valve, High palate, Widely spaced teeth, Prominent fingertip pads, Atrial septal ... OMIM:610443
Mosaic Trisomy 16
Syndactyly, Hypospadias, Single transverse palmar crease, Ventricular septal defect, Abnormality ... ORPHA:1708
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... ORPHA:3206
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Short thorax, Genu valgum, Reduced bone... ORPHA:2983
Seizures-Scoliosis-Macrocephaly Syndrome
Overlapping toe, Microcephaly, Cryptorchidism, Bulbous nose, Reduced bone mineral density, Scolio... ORPHA:466926
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Convex nasal ridge, Patchy osteosclerosis, Micr... OMIM:241410
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature, Microcephaly ORPHA:2435
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Respiratory distress, Redundant neck skin, Anteriorly placed anus, High palate, Ch... OMIM:123790
Fryns Syndrome
Bifid scrotum, Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of... OMIM:229850
Trisomy 1Q
Microretrognathia, Wide nose, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Small scro... ORPHA:261344
Fontaine Progeroid Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Small scrotum, Bicuspid aortic valve, Redund... OMIM:612289
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... OMIM:611263
Meier-Gorlin Syndrome 3
Small scrotum, Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow ch... OMIM:613803
Kapur-Toriello Syndrome
Single transverse palmar crease, Short neck, Atrial septal defect, Micropenis, Pachygyria, Bilate... OMIM:244300
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... OMIM:200610
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Short stature, Anteverted nares, Prominent nasal bridge, Microcephaly, ... OMIM:300558
Mosaic Trisomy 1
Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Orofacial clef... ORPHA:1692
8Q12 Microduplication Syndrome
Ventricular septal defect, Wide nasal bridge, Abnormal cranial nerve morphology, Short foot, Ever... ORPHA:228399
Distal Duplication 17Q
Micrognathia, Pectus carinatum, High palate, Short philtrum, Joint laxity, Rhizomelia, Short stat... ORPHA:3379
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Anteverted nares, Facial palsy, Depressed nasal bridge, Micrognathia,... OMIM:614744
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... ORPHA:2741
Chromosome 2P16.1-P15 Deletion Syndrome
Hypoplasia of the pons, High, narrow palate, Cortical dysplasia, Calcaneovalgus deformity, High p... OMIM:612513
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Atrial septal defect, Wide nose, Abnormal nasal bone morphology, Choana... ORPHA:521308
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomat... ORPHA:2215
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Microcephaly, Abnormal rib morphology, Downturned corners of mouth, Abnorma... ORPHA:2643
Doors Syndrome
Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturn... ORPHA:79500
Amish Lethal Microcephaly
Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Microcephaly, Micrognathia, Li... ORPHA:99742
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Dpm1-Cdg
Tented upper lip vermilion, Sandal gap, External genital hypoplasia, Depressed nasal bridge, Micr... ORPHA:79322
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Fac... ORPHA:3068
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Anteverted nares, Postaxial po... OMIM:619879
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Respiratory insuf... ORPHA:1895
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Rhizomelia, Short stature, Craniosynostosis, Microcephaly, Micrognathia, Si... OMIM:614114
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Short stature, Preaxial hand polydactyly, Non-midline cleft lip,... ORPHA:2549
Arterial Tortuosity Syndrome
Respiratory distress, Redundant skin, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, ... ORPHA:3342
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Pectus carinatum, H... ORPHA:481152
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Microcephaly, Long fingers, Prominent nose, Thick lower lip vermilion, Simplified... OMIM:614407
Van Esch-O'Driscoll Syndrome
Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, Spina bifida o... OMIM:301030
Al-Raqad Syndrome
Joint laxity, Thin upper lip vermilion, Sandal gap, Microcephaly, Narrow mouth, Atrial septal def... OMIM:616459
Opsismodysplasia
Abnormally ossified vertebrae, Severe short stature, Depressed nasal bridge, Tapered finger, Join... ORPHA:2746
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:615485
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Dental crowding, Hypoplasia of the pons, Deep philtrum, Pectus carinatum, High palate, Atrial sep... ORPHA:397709
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Chromosome 5Q12 Deletion Syndrome
Long toe, Sacral dimple, Ventricular septal defect, Micrognathia, Postnatal growth retardation, L... OMIM:615668
Costello Syndrome
Short stature, Abnormal dental enamel morphology, Ventricular septal defect, Abnormality of the d... ORPHA:3071
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Short stature, Choanal atresia, Microcephaly, Pectus excavatum, Esophageal atresia, Mu... OMIM:619227
Crisponi/Cold-Induced Sweating Syndrome 1
Micrognathia, Short neck, High palate, Short palm, Anteverted nares, Facial palsy, Depressed nasa... OMIM:272430
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micrognat... OMIM:617866
Restrictive Dermopathy 1
Prominent superficial blood vessels, Micrognathia, Flexion contracture, Overtubulated long bones,... OMIM:275210
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Situs inversus ... ORPHA:990
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Micrognathia, Microcephaly, Depressed nasal ridge, ... ORPHA:1046
Pelger-Huet Anomaly
Ventricular septal defect, Depressed nasal bridge, Abnormality of the dentition, Kyphosis, Upper ... OMIM:169400
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Pectus carinatum, Cone... OMIM:190350
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Wide nose, Short stature, Bicuspid aortic valve, Sagittal craniosynosto... OMIM:618027
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... OMIM:276820
Desmosterolosis
Relative macrocephaly, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Microcephaly, Micr... OMIM:602398
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Hypointensity of cerebral white matter on MRI, Anteverted nares, Microc... ORPHA:46
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br... ORPHA:93259
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Do... ORPHA:261494
King-Denborough Syndrome
Lumbar hyperlordosis, Short stature, Ventricular septal defect, Kyphoscoliosis, Broad nasal tip, ... OMIM:619542
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Broad skull, Broad ribs, Broad metacarpals, Lumbar hyperlordosis, Shor... OMIM:277600
Degcags Syndrome
Osteopenia, Micrognathia, Prominent nose, Premature graying of hair, High palate, Pallor, Atrial ... OMIM:619488
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ... OMIM:619148
Genitopalatocardiac Syndrome
Hypospadias, Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Transpositio... OMIM:231060
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Median cleft lip, Short stature, Depressed nasal bridge, Postaxial polydact... OMIM:617088
Hypoglossia With Situs Inversus
Respiratory distress, Micrognathia, Situs inversus totalis, Upper airway obstruction, High palate... OMIM:612776
Fatty Acyl-Coa Reductase 1 Deficiency
Smooth philtrum, Thin upper lip vermilion, Short stature, Depressed nasal bridge, Growth delay, L... ORPHA:438178
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Sonoda Syndrome
Ventricular septal defect, Short stature, Depressed nasal bridge, Narrow mouth, High axial triradius OMIM:270460
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, Micrognathia, Cryptorchidism, Flexion contracture, Wide nasal bridge,... OMIM:618388
Char Syndrome
Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Ventricular septal defect... ORPHA:46627
Osteogenesis Imperfecta, Type Xiii
Reduced bone mineral density, Femoral bowing, Pectus carinatum, Enlarged thorax, Limitation of kn... OMIM:614856
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Micropenis, Agenesis of corpus callosum, Short stature, Hypospadias, Cryptor... OMIM:301056
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, Single transverse palmar crease, Micrognathia, High, narrow palate, High pal... OMIM:214100
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Joint s... ORPHA:583
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Gonadal dysgenesis OMIM:611926
Sweeney-Cox Syndrome
Micrognathia, Bilateral cryptorchidism, High palate, Short philtrum, Narrow chest, 2-5 toe syndac... OMIM:617746
Pseudoachondroplasia
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoarthritis, Metaphyse... OMIM:177170
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Cervical k... ORPHA:666
Koolen-De Vries Syndrome
Bicuspid aortic valve, High, narrow palate, Vertebral segmentation defect, Microdontia, Thick nas... ORPHA:96169
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Flexion contracture, Femoral bowing, Choanal stenosis, Narrow chest, Atrial septal defect, Arachn... OMIM:207410
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the ... ORPHA:798
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal ... OMIM:618067
Alg9-Cdg
Villous atrophy, Micrognathia, Short neck, Right ventricular dilatation, Narrow greater sciatic n... ORPHA:79328
Spondylometaphyseal Dysplasia, Sedaghatian Type
Redundant skin, Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Nar... OMIM:250220
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Macrocephaly, Malar flattening, Open mouth, Retrognathia, Short nose OMIM:613670
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... ORPHA:239
Hadziselimovic Syndrome
Ventricular hypertrophy, Short stature, Ventricular septal defect, Anteverted nares, Microcephaly... OMIM:612946
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Microcephaly, Optic atrophy, Cardiomyopathy, Intrauterine growth retardation ORPHA:26792
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Depressed nasal... OMIM:253290
Fryns Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, High palate, Narrow chest, Clinodactyly of ... ORPHA:2059
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Redundant skin, Micrognathia, Short phalanx of finger, Joint laxity, Short stature, W... OMIM:225410
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Severe short stature, Bowing of the long bones, ... ORPHA:1240
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Sotos Syndrome
Mandibular prognathia, High, narrow palate, Partial agenesis of the corpus callosum, High palate,... OMIM:117550
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Short stature, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Bilateral cryp... OMIM:300472
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Respiratory distress, Tapered finger, Microcephaly, Flexion contracture, Hyp... ORPHA:544503
Cree Mental Retardation Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate... OMIM:606851
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,... ORPHA:168555
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Respiratory distress, Scapular winging, Hypoventilation, Neonatal respirat... ORPHA:98915
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow... OMIM:263520
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t... ORPHA:85184
Occipital Horn Syndrome
Osteopenia, Cerebral calcification, High, narrow palate, Coxa vara, Humerus varus, Pectus carinat... ORPHA:198
Endocrine-Cerebroosteodysplasia
Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, T... OMIM:612651
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Premature thelarche, Hypoplasia of the brainstem, Widely spaced teeth, Micropenis, Short stature,... ORPHA:268261
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Hypoplasia o... OMIM:601076
White-Sutton Syndrome
Mandibular prognathia, Micrognathia, Short neck, Downturned corners of mouth, High palate, Short ... OMIM:616364
De Barsy Syndrome
Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Generalized joint laxity, C... ORPHA:2962
Cerebrocostomandibular Syndrome
Death in infancy, Neonatal respiratory distress, Cerebral calcification, Short stature, Hydranenc... ORPHA:1393
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, ... OMIM:109400
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Microcephaly, Micrognathia, Fl... OMIM:618186
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ... ORPHA:2083
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Microcephaly, Depressed nasal ridge, Cleft pa... ORPHA:1727
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... OMIM:151050
White Forelock With Malformations
Finger syndactyly, Atrial septal defect, Deep philtrum, Abnormal rib morphology, Joint hyperflexi... ORPHA:2475
Faciodigitogenital Syndrome, Autosomal Recessive
Deep philtrum, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Antever... OMIM:227330
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... ORPHA:1529
Schilbach-Rott Syndrome
Short stature, Hypospadias, Microcephaly, Micrognathia, Prominent nose, 2-3 toe cutaneous syndact... OMIM:164220
Fetal Hydantoin Syndrome
Bifid scrotum, Short stature, Microcephaly, Cryptorchidism, Depressed nasal ridge, Cleft palate, ... ORPHA:1912
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Kyphosis, Dentin... OMIM:259440
Miller-Dieker Syndrome
Sacral dimple, Anteverted nares, Growth delay, Abnormal upper lip morphology, Lissencephaly, Hypo... ORPHA:531
Adams-Oliver Syndrome 4
Ventricular septal defect, Cutis marmorata, Short toe, Absent middle phalanx of the 3rd toe, Apla... OMIM:615297
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... ORPHA:261330
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Micrognathia ORPHA:2260
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Short stature, Cleft soft palate, Hypospadias, Microcephaly, Micrognathia, Cryptorchidism, Male p... ORPHA:2282
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ventricular septal defect, Single transverse palmar crease, Microc... ORPHA:79243
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo... OMIM:184250
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Swollen lip, Short neck, Calcaneovalgus deformity, Depressed nasal ridg... OMIM:256520
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... ORPHA:364577
C Syndrome
Redundant skin, Micromelia, Micrognathia, Short neck, High palate, Biparietal narrowing, Clinodac... ORPHA:1308
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome
Tented upper lip vermilion, Deep philtrum, Depressed nasal ridge, Genu valgum, Pectus carinatum, ... ORPHA:2104
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Downturned... OMIM:619950
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Cerebellar vermis hypoplasia, Short stature, Rocker bottom foot, Tapered finger... OMIM:620070
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Short stature, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Pectus excavat... ORPHA:52055
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Bilateral single transverse palmar creases, Micromelia, S... ORPHA:50810
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal nerve conduction v... ORPHA:93473
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal ... OMIM:619534
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short metacarpal, Short stature, Dental crowding, Underdeve... OMIM:190351
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow ... ORPHA:373
Noonan Syndrome 5
Mandibular prognathia, Short stature, Depressed nasal bridge, Short neck, Cryptorchidism, Wide mo... OMIM:611553
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Broad hallux, Ventricular septal defect, Underdev... ORPHA:276432
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Atelis Syndrome 1
Ventricular septal defect, Prominent nose, Carious teeth, Bronchiectasis, Lumbar kyphosis, High p... OMIM:620184
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Peho Syndrome
Tented upper lip vermilion, Tapered finger, Short nose, Optic atrophy, Retrognathia, Hypoplasia o... OMIM:260565
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Cerebral atrophy, Macrocephaly OMIM:614300
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Depressed nasal brid... OMIM:613443
Orofaciodigital Syndrome V
Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Opt... OMIM:174300
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Atrial septal ... OMIM:301044
Woods Syndrome
Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Opti... OMIM:615236
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Short stature, Hypospadias, Dex... ORPHA:2315
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Dominant Beta-Thalassemia
Bowing of the long bones, Depressed nasal bridge, Malar prominence, Abnormality of the dentition,... ORPHA:231226
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Kyphosis, Osteoporosis, Platyspondyly, Pallor ORPHA:2786
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Relative macrocephaly, Cerebellar vermis hypoplasia, Short stature, Depressed nasal bridge, Sagit... ORPHA:459061
Nablus Mask-Like Facial Syndrome
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, High palate, Micropenis, ... OMIM:608156
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Short stature, Depressed nasal bridge, Submucous cleft hard palate, Synoviti... OMIM:601492
Kury-Isidor Syndrome
Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Rocker b... OMIM:619762
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Short neck, Hemivertebrae, Knee flexion contracture, Pectus carinatum, Cutaneo... OMIM:178110
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Anteverted nares, Short neck,... ORPHA:884
Hydrolethalus
Absent septum pellucidum, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, S... ORPHA:2189
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, S... OMIM:214300
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Broad skull, Short metatarsal, High palate, Broad ribs, Broad metacarp... OMIM:608328
Meier-Gorlin Syndrome 5
Short stature, Microcephaly, Micrognathia, Cryptorchidism, Irregular femoral epiphysis, Submucous... OMIM:613805
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Micromelia, Short neck, Downturne... ORPHA:199
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Respiratory insufficiency, Respiratory failure, Tongue fasciculations,... OMIM:253300
Hypophosphatasia, Infantile
Death in infancy, Apnea, Craniosynostosis, Bowing of the legs, Abnormality of the dentition, Micr... OMIM:241500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Cardiomegaly, Subcortical cerebral atrophy, High palate, Lumbar hemivertebrae, Abnorm... ORPHA:2463
4Q21 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Short neck, Kyp... ORPHA:238750
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underd... ORPHA:894
Chondrodysplasia Punctata 1, X-Linked Recessive
Short stature, Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Abnormality o... OMIM:302950
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Hyperlordosis, ... ORPHA:169186
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... OMIM:619503
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d... ORPHA:457279
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Finger clinodactyly, Depressed nasal bridge, Tapered finger, Cryptorchidism, Scoli... OMIM:601353
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a... ORPHA:264450
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect,... OMIM:619239
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch... OMIM:219000
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short stature, Anteverted nares, Depressed nasal bridge, Missing ribs, Bilateral cryptorchidism, ... OMIM:619859
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Cra... OMIM:614732
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:601390
Mosaic Trisomy 8
Micrognathia, Short neck, Vertebral segmentation defect, High palate, Narrow chest, Clinodactyly ... ORPHA:96061
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Anteverted nares, Hypospadias, Narrow mouth, Depressed nasal ridge, Abnormal oral ... ORPHA:1355
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Syndactyly, Ventricular septal defect, Depressed nasal bridge, Cutis marmorata, Meg... OMIM:602501
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Pectu... ORPHA:1812
Tyshchenko Syndrome
Short stature, Ventricular septal defect, Pectus excavatum, High, narrow palate, Cryptorchidism, ... OMIM:615102
Recon Progeroid Syndrome
Dental crowding, Proximal placement of thumb, Scaling skin, Joint laxity, Prominence of the prema... OMIM:620370
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Depressed nasal bridge, Megalencephaly, Abnormal nasal morphology, Nar... ORPHA:83473
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Brachycephaly, Trichomegaly, And Developmental Delay
Short stature, Single transverse palmar crease, Depressed nasal bridge, Microcephaly, Supernumera... OMIM:617412
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Metaphyseal widening,... OMIM:182212
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Short stature, Ventricular septal defect, Lateral clavicle hook, Po... OMIM:615630
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cleft hard palate, ... OMIM:619122
Ramos-Arroyo Syndrome
Respiratory distress, Severe short stature, Aganglionic megacolon, Anteverted nares, Depressed na... ORPHA:1051
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Absent external genitalia, Missing ribs, Short neck, Rib fusio... OMIM:271520
8P11.2 Deletion Syndrome
Hypoplasia of penis, Sacral dimple, Short stature, Hypogonadotropic hypogonadism, Depressed nasal... ORPHA:251066
Branchioskeletogenital Syndrome
Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Anteriorly pl... ORPHA:1299
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Growth delay, Pallor, Hyp... OMIM:613561
Triploidy
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micrognathia, Short ... ORPHA:3376
Acrofrontofacionasal Dysostosis
Bifid scrotum, Brachydactyly, Short stature, Camptodactyly of finger, Hypospadias, Micromelia, Br... ORPHA:1784
Cantú Syndrome
Cardiomegaly, Short neck, Narrow chest, Broad ribs, Finger syndactyly, Broad hallux phalanx, Ante... ORPHA:1517
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Microcephaly, Postnatal growth retardation, C... ORPHA:93324
Van Maldergem Syndrome 2
Osteopenia, Bifid scrotum, Short fourth metatarsal, Tented upper lip vermilion, Irregular dentiti... OMIM:615546
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Bil... ORPHA:1200
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Ant... ORPHA:261250
Trisomy 12P
Short stature, Micrognathia, Short neck, Wide nasal bridge, Cleft palate, Downturned corners of m... ORPHA:1699
Alazami Syndrome
Wide nose, Cutis marmorata, Postnatal growth retardation, Mild microcephaly, Wide mouth, Slender ... ORPHA:319671
Hereditary Bullous Dystrophy, Macular Type
Short stature, External genital hypoplasia, Pneumonia, Microcephaly, Tapered finger, Cryptorchidi... ORPHA:1867
Nicolaides-Baraitser Syndrome
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... OMIM:601358
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Dextrocardia, Cryptorchidism, Sprengel anomaly,... OMIM:618929
Chime Syndrome
Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplas... ORPHA:3474
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Microcephaly, Micrognathia, Submucous cleft hard ... ORPHA:2521
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... OMIM:271650
Cardiac-Valvular Ehlers-Danlos Syndrome
Dental crowding, Calcaneovalgus deformity, Absent phalangeal crease, Hypermobility of distal inte... ORPHA:230851
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, High palate, Narrow chest, Atrial septal defect, Patent f... ORPHA:280633
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Ohdo Syndrome, X-Linked
Small scrotum, Micrognathia, Prominent nose, High palate, Widely spaced teeth, Narrow chest, Micr... OMIM:300895
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Allergic rhini... OMIM:618162
Chitayat Syndrome
Hallux valgus, Respiratory distress, Short stature, Anteverted nares, Depressed nasal bridge, Pec... OMIM:617180
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Sandal gap, Optic nerve hypoplasia, Anteverted nares, Depressed nasal b... ORPHA:357001
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Optic atrophy, Pallor, Atrial septal defect ORPHA:49827
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang... ORPHA:59315
Nabais Sa-De Vries Syndrome, Type 1
Neonatal respiratory distress, Sacral dimple, Depressed nasal bridge, Optic nerve hypoplasia, Pro... OMIM:618828
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Depressed nasal bridge, Long nose, Bulbous nos... OMIM:118450
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Hypoplasia of the ma... ORPHA:50814
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cryptorchidism... ORPHA:1724
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,... ORPHA:96121
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... OMIM:611376
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Hypospadias, Ventricular septal defect, Depressed nasal bridge, Microcepha... OMIM:619103
Nabais Sa-De Vries Syndrome, Type 2
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Tapered finger, Micrognathia, P... OMIM:618829
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Ventricular septal defect, Abnormal cortical gyration, Postaxial polydactyly, M... OMIM:614576
Li-Campeau Syndrome
Short stature, Single transverse palmar crease, Ventricular septal defect, Cryptorchidism, Patell... OMIM:619189
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Death in infancy, Redundant neck skin, Ventricular septal defect, Micro... OMIM:235255
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Flexion contracture, Oligodontia, High palate, Short philtrum, Micropenis, Long phi... OMIM:309590
Sanjad-Sakati Syndrome
Intestinal obstruction, Hypoplasia of penis, Short stature, Abnormal dental enamel morphology, Pa... ORPHA:2323
Stankiewicz-Isidor Syndrome
Sacral dimple, Hypospadias, Truncus arteriosus, Ventricular septal defect, Absent thumb, Microgna... OMIM:617516
Chops Syndrome
Short stature, Ventricular septal defect, Anteverted nares, Microcephaly, High, narrow palate, Cr... OMIM:616368
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Anteverted nares, Microcephaly, Short neck, Cryptorchidism, Depressed na... ORPHA:464288
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Micrognathia, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, High... OMIM:300749
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co... ORPHA:171703
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Wide nose, Osteomyelitis, Micrognathia, Abnormality of the dentition, Recurrent pneumonia, Bronch... OMIM:618282
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Short stature, Ventricular septal defect, Depressed nasal b... OMIM:610733
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Short stature, Hypospadias, Ventricular septal defect, Pectus excavatum... OMIM:618330
Teebi-Shaltout Syndrome
Single transverse palmar crease, High, narrow palate, Pectus carinatum, Oligodontia, Prominent pa... OMIM:272950
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Microcephaly, Pericardial effusion, Short neck, Kyphosis, Hip dislocation... OMIM:608776
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Short stature, Abnormality of the philtrum, Bilateral single transverse palmar creases, Ventricul... ORPHA:1770
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Relative macrocephaly, Mandibular prognathia, Barrel-shaped chest, Rhizomelia, Lumb... ORPHA:171866
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... OMIM:164900
Cranioectodermal Dysplasia 2
Micrognathia, Short neck, Ectodermal dysplasia, Fused teeth, High palate, Widely spaced teeth, Na... OMIM:613610
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Respiratory distress, Congenital hip dislocation, Cerebellar vermis hypoplasia, Promi... ORPHA:480880
Acrocardiofacial Syndrome
Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Death in infancy, Hypospadias, Clef... ORPHA:2008
Genitopalatocardiac Syndrome
Hypospadias, Microcephaly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Male pseudoh... ORPHA:2075
Diamond-Blackfan Anemia 10
Respiratory distress, Short stature, Ventricular septal defect, Choanal atresia, Micrognathia, Cl... OMIM:613309
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Pectus excavatum, Spina... OMIM:618624
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Pachygyria, Agenesis of corpus callosum, Long ... ORPHA:2308
Coffin-Siris Syndrome 4
Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Thick nasal alae, Agenesi... OMIM:614609
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short stature, Anteverted nares, Optic atrophy, Reduced bone mineral density, Downturned corners ... ORPHA:1185
Ververi-Brady Syndrome
Smooth philtrum, Thin upper lip vermilion, Wide nose, Short stature, Microcephaly, Prominent nose... OMIM:617982
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Depressed nasal bridge, Microcephaly, Cryptorchidism, Polydactyly, Intrauterine grow... OMIM:616910
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... ORPHA:2769
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Intestinal malrotation, C... ORPHA:3035
Coffin-Siris Syndrome 11
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Small hand, Downturn... OMIM:618779
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Short stature, Dental crowding,... OMIM:300990
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Short stature, Anterior... OMIM:260400
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Optic dis... ORPHA:1790
Heart And Brain Malformation Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finger, Anteverted nare... OMIM:616920
Sheldon-Hall Syndrome
Short stature, Tarsal synostosis, Ulnar deviation of the wrist, Joint stiffness, Micrognathia, Bi... ORPHA:1147
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Distal Triplication 15Q
Arachnodactyly, Abnormal external genitalia, Craniosynostosis, Micrognathia, Kyphosis, Flexion co... ORPHA:314588
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Marshall Syndrome
Cerebral calcification, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Hy... ORPHA:560
Geleophysic Dysplasia 1
Osteopenia, Short palm, Short metacarpals with rounded proximal ends, Wrist flexion contracture, ... OMIM:231050
Intellectual Disability, Birk-Barel Type
Narrow nasal bridge, Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognat... ORPHA:166108
Congenital Heart Block
Cyanosis, Crackles, Pericardial effusion, Pallor, Endocardial fibroelastosis, Intrauterine growth... ORPHA:60041
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect, Prominent nasal bridge, Tapered finger, Microce... OMIM:609460
Leukodystrophy, Hypomyelinating, 10
Arachnodactyly, Anteverted nares, Reduced cerebral white matter volume, Bulbous nose, Cerebral at... OMIM:616420
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Depressed nasal bridge,... ORPHA:2876
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Reduced cerebral white matter volume, Microcephaly, Kyphoscoliosis, Hypopla... OMIM:617977
Peripheral Cone Dystrophy
Optic disc pallor, Optic atrophy, Pallor OMIM:609021
Long Qt Syndrome 16
Perimembranous ventricular septal defect OMIM:618782
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Prominent fingertip pads, M... OMIM:615873
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Thin upper lip vermilion, Brachydactyly, Hypoplasia of penis, Hypogonadotropic hyp... ORPHA:1295
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Small scrotum, Choana... ORPHA:1300
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Micrognathia, Sprengel anomaly, Abnormal optic disc morphology, Micropenis, Bifid uvula, Short st... ORPHA:293967
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Sacral dimple, Ventricular septal defect, Short stature, Depressed nasal bridge, Broad... OMIM:619995
Lambert Syndrome
Hypospadias, Ventricular septal defect, Jaundice, Wide mouth, Branchial anomaly, Aplasia/Hypoplas... ORPHA:1296
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Short stature, Hypogonadotropic hypogonadism, Ventricular septal defect, Ta... OMIM:617159
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... ORPHA:1836
Double Outlet Right Ventricle
Cyanosis, Short stature, Intestinal malrotation, Ventricular septal defect, Depressed nasal bridg... ORPHA:3426
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Microcep... ORPHA:452
Ring Chromosome 7 Syndrome
Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f... ORPHA:1449
Keipert Syndrome
Broad hallux phalanx, Tented upper lip vermilion, Short stature, Exaggerated cupid's bow, Short h... ORPHA:2662
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Abnormal bone structure ORPHA:46532
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... ORPHA:87
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short stature, Microcephaly, Micrognathia, Flexion contracture, Osteoporosis, Optic at... OMIM:615851
Trigonocephaly 1
Craniosynostosis, Microcephaly, High, narrow palate, Long penis, Wide nasal bridge, Lumbar hemive... OMIM:190440
Myopathy, Mitochondrial, And Ataxia
Mandibular prognathia, Short stature, Micrognathia, Pectus excavatum, Growth delay, High palate, ... OMIM:617675
Lateral Meningocele Syndrome
Smooth philtrum, Vertebral fusion, Short stature, Dental crowding, Bicuspid aortic valve, Microgn... OMIM:130720
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Dental malocclusion, Wide ... OMIM:619149
Beta-Thalassemia Major
Bowing of the long bones, Depressed nasal bridge, Malar prominence, Abnormality of the dentition,... ORPHA:231214
15Q14 Microdeletion Syndrome
Short stature, Ventricular septal defect, Prominent nasal bridge, Microcephaly, Abnormality of th... ORPHA:261190
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Short stature, Microcephaly, Abnormal limb bone morphology, Limb ... ORPHA:2204
Diabetic Embryopathy
Ventricular septal defect, Microcephaly, Micrognathia, Cryptorchidism, Abnormal sacrum morphology... ORPHA:1926
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Short stature, Anteverted n... ORPHA:280200
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teet... OMIM:102500
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... ORPHA:249
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short... OMIM:252100
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Endometriosis, Micrognathia, Microcephaly, Carious teeth, Velopharynge... OMIM:613680
Craniolenticulosutural Dysplasia
Osteopenia, High palate, Narrow chest, Bifid uvula, Long philtrum, Joint laxity, Short stature, A... OMIM:607812
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Anal stenosis, Anteverted nares, Depressed nasal bridge, Micrognathia, Shor... OMIM:614080
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Recurrent phary... ORPHA:3099
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Ulnar de... ORPHA:2928
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, Micrognathia, High, narrow palate, Downturned corners of mouth, Microdontia, Cli... ORPHA:96182
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Severe short stature, Ventricular septal defect, Camptodactyly of finger, M... ORPHA:3047
Intellectual Developmental Disorder, Autosomal Recessive 44
Anteverted nares, Depressed nasal bridge, Thin vermilion border, Long philtrum, Bifid uvula, Shaw... OMIM:615942
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Abnormal form of ... ORPHA:828
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Tarsal synostosis, Abnormal mo... ORPHA:1307
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Knee flexion contracture, Short philtrum, S... ORPHA:371364
1Q44 Microdeletion Syndrome
Short stature, Intestinal malrotation, Exaggerated cupid's bow, Microcephaly, Micrognathia, Growt... ORPHA:238769
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Overlapping toe, Ventricular septal defect, Depressed nasal bridge, Promine... OMIM:618974
Lambotte Syndrome
Ventricular septal defect, Microcephaly, Preaxial foot polydactyly, Narrow mouth, Intrauterine gr... OMIM:245552
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... OMIM:309583
Trichorhinophalangeal Syndrome Type 2
Redundant skin, Deep philtrum, Thick nasal alae, Bilateral single transverse palmar creases, Shor... ORPHA:502
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short neck, Anteriorly placed an... ORPHA:247262
Vacterl/Vater Association
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Abnormal intervertebral disk morphology, H... ORPHA:887
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Pectus excavatum, ... ORPHA:2970
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypospadias, Micromelia, Hypoplasia of the radius, Nonopposable triphalang... ORPHA:2252
Toluene Embryopathy
Short stature, Microcephaly, Tapered finger, Cryptorchidism, Micrognathia, Thin vermilion border,... ORPHA:1920
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, Anteverted nares, Micr... OMIM:614105
Distal Xq28 Microduplication Syndrome
Short stature, Short lingual frenulum, Dental crowding, Microcephaly, Metatarsus adductus, Hypopl... ORPHA:293939
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Microcephaly, Underdeveloped nasal alae, Cleft palate, Hydranencephaly... OMIM:601355
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Microcephaly, Cryptorchidism, ... ORPHA:85284
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Short stature, Hypospadias, Microcephaly, Bifid nasal tip, Pectus excav... OMIM:618874
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Reduced cerebral white matter volume, Tapered finger, Microcephaly, Cry... OMIM:615803
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Anteverted nares, Short nose, Optic atrophy, Wide nasal bridge, Cardiomyopathy... OMIM:618437
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Micrognathia, Knee flexion contracture, Pectus carinatum, Oligodontia, High palate, Clinodactyly ... OMIM:210730
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Hypospadias, Ventricular septal defect, Anteverted nares, Micrognat... ORPHA:494344
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... ORPHA:363611
8P23.1 Duplication Syndrome
Wide nose, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, ... ORPHA:251076
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Absent septum pellucidum, Bilater... OMIM:601357
Cerebellofaciodental Syndrome
Short stature, Single transverse palmar crease, Ventricular septal defect, Tapered finger, Hypopl... OMIM:616202
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Recurren... ORPHA:2050
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... ORPHA:1209
Intellectual Developmental Disorder, Autosomal Dominant 48
Joint laxity, Cerebellar vermis hypoplasia, Hypospadias, Bicuspid aortic valve, Ventricular septa... OMIM:617751
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Monosomy 9P
Proximal placement of thumb, Micrognathia, Short neck, High palate, Agenesis of corpus callosum, ... ORPHA:261112
Down Syndrome
Short neck, Depressed nasal ridge, Downturned corners of mouth, Clinodactyly of the 5th finger, M... ORPHA:870
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Aplasia/Hypoplasia involving the nose, Micr... ORPHA:3301
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hypointensity of cerebral white matter on MRI, Broad hallux, Depressed nasal bridge, Short neck, ... OMIM:300860
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Agenesis of corpus callosum, Cr... OMIM:619194
Meier-Gorlin Syndrome 6
Microretrognathia, Severe short stature, Sandal gap, Anteverted nares, Depressed nasal bridge, Mi... OMIM:616835
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Short neck, Palma... ORPHA:77301
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Micropenis, Clubbing of fingers, Gingival bleeding, Left vent... ORPHA:335
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Microcephaly, Wide mouth, Thin ve... ORPHA:544254
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Selective tooth agenesis, Ventricular septal defect, Conical tooth, Hypoplasia of th... OMIM:106260
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cerebellar vermis hypoplasia, Apnea, Secondary microcephaly, Cyanotic episode OMIM:610992
Buratti-Harel Syndrome
Atrial septal defect, Broad hallux, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Su... OMIM:619314
Congenital Gerbode Defect
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert... ORPHA:99095
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Reduced cerebral white matter volume, Broad nasal tip... OMIM:617190
Noonan Syndrome 7
Short stature, Joint hypermobility, Depressed nasal bridge, Short neck, Pectus excavatum, Pectus ... OMIM:613706
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal ep... ORPHA:93283
Maternal Phenylketonuria
Ventricular septal defect, Anteverted nares, Bifid distal phalanx of the thumb, Microcephaly, Eso... ORPHA:2209
Mgat2-Cdg
Osteopenia, Respiratory distress, Dental crowding, Ventricular septal defect, Pectus excavatum, K... ORPHA:79329
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Depressed nasal bridge, Delayed epiphyseal ossification, Macroglossia, Abno... ORPHA:226313
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Anteverted nares, Depressed nasal bridge, Craniosynostosis, ... ORPHA:1555
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Dental crowding, Proximal placement of th... OMIM:270400
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Death in infancy, Cerebellar vermis hypoplasia, Short stature, Ventricular septal de... OMIM:616901
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia o... ORPHA:2476
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar... OMIM:612394
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Diaste... OMIM:619698
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Situs inversus totalis, Absent outer dynein arms,... OMIM:618300
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Optic disc pallor, Hypergonadotropic hypogonadism, Dysplastic corpus callosum,... OMIM:619737
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Downturned corners of mouth, Abnormal sternum morphology, Short phil... OMIM:616737
Warsaw Breakage Syndrome
Ventricular septal defect, Single transverse palmar crease, Cutis marmorata, Microcephaly, Postna... OMIM:613398
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Cyanosis, Short stature, Hypogonadotropic hypogonadism, Short lingual frenulum, Parti... ORPHA:2326
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion... OMIM:618618
Pontine Tegmental Cap Dysplasia
Facial palsy, Hemivertebrae, Rib fusion, Hypoplasia of the corpus callosum, Scoliosis, Aspiration OMIM:614688
Lathosterolosis
Abnormal thoracic spine morphology, Hypoplasia of penis, Toe syndactyly, Cerebral calcification, ... ORPHA:46059
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy, Pallor OMIM:612989
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Craniosynostosis, Pectus excavatum, Joint hyperflexibi... ORPHA:261243
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Short stature, Glenoid fossa hypoplasia, Elbow... ORPHA:85170
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Paten... ORPHA:444077
Xylt1-Cdg
Joint laxity, Relative macrocephaly, Short stature, Coxa valga, Microcephaly, Flared metaphysis, ... ORPHA:370930
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Tented upper lip vermilion, Abnormal periventricular white matter m... OMIM:616900
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal respiratory distress, Dental crowding, Anteverted nares, Depressed nasal bridge, Microgn... OMIM:619005
Megalencephaly
Atrial septal defect, Short neck, Long penis, Wide nasal bridge, Genu valgum, Macrocephaly, Macro... ORPHA:2477
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned... ORPHA:352665
Renpenning Syndrome 1
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Death in childhood, Clinodactyl... OMIM:309500
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Tongue fasciculations, Abnormal corpus striatum ... ORPHA:238329
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... OMIM:301043
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Short stature, Bicuspid aortic valve, Depressed nasal bridge, Microcephaly, Postnatal g... OMIM:613355
Aymé-Gripp Syndrome
Oligodontia, Clinodactyly of the 5th finger, Short stature, Depressed nasal bridge, Tapered finge... ORPHA:1272
Viss Syndrome
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, Genera... OMIM:619472
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnor... ORPHA:1486
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... OMIM:300166
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Camptodactyly of fi... ORPHA:2633
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal thor... ORPHA:73230
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Optic Atrophy 1
Optic atrophy, Pallor OMIM:165500
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Megalencephaly, M... OMIM:613603
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... OMIM:271225
Heart Defects, Congenital, And Other Congenital Anomalies
Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... OMIM:600001
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate,... OMIM:300534
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occ... ORPHA:1514
Distal Duplication 6P
Sacral dimple, Short stature, Prominent nasal bridge, Micrognathia, Short neck, Thin vermilion bo... ORPHA:1745
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Downturned corners of mouth, High palate, Dandy-Walker malformation... OMIM:605627
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... ORPHA:137888
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Neuronal loss in basal ganglia, Depressed nasal bridge, M... OMIM:604377
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl... OMIM:616580
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Dental crowding, Ventricular septal defect, Micrognathia, Pectus excav... ORPHA:2789
Primary Lateral Sclerosis, Juvenile
Difficulty in tongue movements, Decreased compound muscle action potential amplitude, Cerebral co... OMIM:606353
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Tented upper lip vermilion, Postaxia... OMIM:614424
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Micrognathia, Postnatal... ORPHA:1655
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Microcephaly, Micrognathia, Short... OMIM:617802
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Short stature, Ventricular septal defect, Dextrocardia, Cleft upper l... OMIM:614294
Lig4 Syndrome
Hypoplasia of penis, Telangiectasia of the skin, Microcephaly, Malabsorption, Cryptorchidism, Mic... ORPHA:99812
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee... OMIM:617402
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Choanal sten... OMIM:241310
20Q13.33 Microdeletion Syndrome
Hallux valgus, Sacral dimple, Hypospadias, Decreased scrotal rugation, Narrow nose, Tapered finge... ORPHA:261311
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Short stature, Down-sloping shoulders, Anteverted nares, Micrognathia, Open bi... ORPHA:1974
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Nephrotic Syndrome, Type 11
Arachnodactyly, Ventricular septal defect, Micrognathia, Cleft lip, Partial duplication of thumb ... OMIM:616730
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphal... ORPHA:2547
Cerebellar-Facial-Dental Syndrome
Single transverse palmar crease, Micrognathia, Hypoplasia of the pons, Short neck, Hypoplasia of ... ORPHA:444072
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Coxa valga, Joint stiffness, Thoracolumbar kyphosis, Optic atrophy, Gingival o... OMIM:230600
Opitz Gbbb Syndrome
Bifid scrotum, Micrognathia, Vertebral segmentation defect, High palate, Atrial septal defect, Ag... ORPHA:2745
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Prematur... OMIM:268400
Hyperparathyroidism, Transient Neonatal
Osteopenia, Respiratory distress, Short femur, Anteverted nares, Recurrent fractures, Metaphyseal... OMIM:618188
Jansen-De Vries Syndrome
Thin upper lip vermilion, Short stature, Bicuspid aortic valve, Ventricular septal defect, Anteve... OMIM:617450
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Dental crowding, Micrognathia, Cortical dysplasia, Hypoplasia of the brainstem, Short philtrum, N... OMIM:618343
Hereditary Methemoglobinemia
Cyanosis, Microcephaly, Temporal cortical atrophy, Exertional dyspnea, Lip discoloration, Frontal... ORPHA:621
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Femal... ORPHA:1519
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Osteolysis invo... ORPHA:371428
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Microcephaly, Spinal rigidity, Dyspnea, Cardiomyopath... ORPHA:86812
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foo... OMIM:617405
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br... ORPHA:93260
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Bronchiectasis OMIM:241600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Cerebral calcification, Short neck, Flexion contracture, Pectus carinatum, ... ORPHA:505248
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Short metata... OMIM:617137
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose, Long philtrum OMIM:125700
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi... ORPHA:2167
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebral calcification, Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Increased... OMIM:618476
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Anteverted nares, Tapered finger, Broad nasal tip, Cryptorchidism, Generalized joint laxity, Recu... ORPHA:589905
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Lumbar hyperlor... OMIM:184253
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Pectus carinatum, High palate... ORPHA:93315
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Progressive microcephaly ORPHA:71277
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Arachnodactyly, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Pectus... OMIM:301039
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short stature, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal... ORPHA:1389
Peters Plus Syndrome
Micromelia, Micrognathia, Short neck, Bicuspid pulmonary valve, Clitoral hypoplasia, Widely space... ORPHA:709
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Toe syndactyly, Optic nerve hypoplasia, Anteverted nares, Short no... ORPHA:228384
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Short palm, Broad ribs, Thick upper lip vermilion, Long philtrum,... OMIM:619727
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal syno... ORPHA:2639
Ayme-Gripp Syndrome
Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Short stature, Depressed nasal bri... OMIM:601088
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Porencephalic cyst, Microcephaly ORPHA:254351
Geleophysic Dysplasia 2
Thin upper lip vermilion, Short stature, Tricuspid stenosis, Ovoid vertebral bodies, Joint stiffn... OMIM:614185
Prolidase Deficiency
Chronic lung disease, Depressed nasal bridge, Micrognathia, Asthma, Recurrent pneumonia, Diffuse ... OMIM:170100
Chromosome 1P35 Deletion Syndrome
Thin upper lip vermilion, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Cough, Incre... OMIM:617930
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Recurrent upper respiratory tract infections, Cor pulm... OMIM:263000
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Short stature, Convex nasal ridge, Abnormal fingertip morpho... ORPHA:90154
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Redundant neck skin, Single transverse palmar crease, Flexion contracture, Wrist flexion contract... ORPHA:254528
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Atrial septal defect, Tented upper lip vermilion, Depressed nasal bridg... OMIM:620075
Peters-Plus Syndrome
Hypoplasia of the vagina, Short lingual frenulum, Single transverse palmar crease, Limited elbow ... OMIM:261540
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Microcephaly, Kyphosis... ORPHA:261144
Infantile Systemic Hyalinosis
Osteopenia, Micromelia, Short neck, Short palm, Abnormal dental morphology, Osteomalacia, Osteopo... ORPHA:2176
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Short stature, Ventricular septal defect, Postaxial polydactyly, Depressed nasal brid... OMIM:615503
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Tachypnea, Cerebral atrophy, Growth delay, Bell-shaped thorax, Atri... OMIM:614857
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Short stature, Abnormal mitral valve morphology, Microcephaly, Prominent no... ORPHA:1292
Oculomaxillofacial Dysostosis
Median cleft lip, Short stature, Camptodactyly of finger, Micrognathia, Abnormality of the humeru... ORPHA:1794
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet,... OMIM:278250
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... OMIM:253220
Hypophosphatasia
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormality of th... ORPHA:436
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Short neck, Glandular hypospadias, Downtu... OMIM:136140
Pentalogy Of Cantrell
Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Abnormal tibia morpholog... ORPHA:1335
Noonan Syndrome 3
Atrial septal defect, Hypoplastic nasal bridge, Short stature, Ventricular septal defect, Sagitta... OMIM:609942
Stevenson-Carey Syndrome
Anteverted nares, Central hypoventilation, Underdeveloped nasal alae, Narrow mouth, Pierre-Robin ... OMIM:611961
Distal Deletion 6P
Atrial septal defect, Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal... ORPHA:96125
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decrea... OMIM:618265
Baker-Gordon Syndrome
Joint laxity, Thin upper lip vermilion, Scoliosis, Prominent nasal tip, Short nose, Smooth philtrum OMIM:618218
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Generalized joint laxity, High palate, Atrial septal defect, Ecchymosis, Abnormal duodenum morpho... OMIM:601776
Native American Myopathy
Joint laxity, Short stature, Micrognathia, Cryptorchidism, Cleft palate, Respiratory insufficienc... ORPHA:168572
17Q11.2 Microduplication Syndrome
Short stature, Abnormal dental enamel morphology, Microcephaly, Thin vermilion border, Bifid nose... ORPHA:139474
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Proportionate short stature, Kyphoscoliosis, Cryptorchidism, Short toe, De... ORPHA:404443
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Prominent nasal bridge, Protruding tongue, Microcephaly, Dysplastic corpus callosu... OMIM:619179
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Cerebellar vermis hypoplasia, Severe short stature, Distal clavicular thinning,... OMIM:600092
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Wide nose, Short stature, Anteverted nares, Abnormal large intestine morpho... ORPHA:109
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Micromelia, Cryptorchidism, Hypogonad... ORPHA:85173
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph... OMIM:619127
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Downturned corners of ... ORPHA:369837
Trisomy 8Q
Hypoplasia of penis, Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, Non-... ORPHA:1752
12Q14 Microdeletion Syndrome
Wide nose, Short stature, Intestinal malrotation, Prominent nasal bridge, Microcephaly, Micrognat... ORPHA:94063
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te... OMIM:257850
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge... ORPHA:284169
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Single transverse palmar crease, Proximal placement of thumb, Bicuspid a... OMIM:618619
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... OMIM:616294
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, High palate, Clinodactyly of ... OMIM:616975
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial ... ORPHA:439
Glycogen Storage Disease Iii
Ventricular hypertrophy, Thin upper lip vermilion, Short stature, Depressed nasal bridge, Broad n... OMIM:232400
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Scapular winging, Short stature, Hypospadias, Abnormal pulmonary... ORPHA:500
Dravet Syndrome
Pallor, Limited knee extension, Cyanotic episode, Global brain atrophy, Tibial torsion ORPHA:33069
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala... ORPHA:221120
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Premature graying of hair, High palate, Atrial septal def... ORPHA:769
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Sacral dimple, Rhizomelia, Short statur... ORPHA:319182
Developmental And Epileptic Encephalopathy 80
Optic disc pallor, Death in infancy, Tented upper lip vermilion, Tapered finger, Protruding tongu... OMIM:618580
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Kyphoscoliosis, High palate, Camptodactyly, Atrial septal defe... OMIM:614846
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Macrocephaly,... ORPHA:1506
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Charge Syndrome
Bifid scrotum, Abnormal tibia morphology, Hemivertebrae, Abnormality of bone mineral density, Apl... ORPHA:138
Alg12-Cdg
Redundant skin, Proximal placement of thumb, Micrognathia, Short philtrum, Abnormal bone ossifica... ORPHA:79324
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Short stature, Sandal gap, Macrodontia, Microcep... ORPHA:228402
Fanconi Anemia, Complementation Group C
Short stature, Hypergonadotropic hypogonadism, Ventricular septal defect, Absent thumb, Absent ra... OMIM:227645
Jaberi-Elahi Syndrome
Depressed nasal bridge, Joint hypermobility, Joint stiffness, Microcephaly, Kyphosis, Globus pall... OMIM:617988
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Atrial se... ORPHA:261323
Peho Syndrome
Anteverted nares, Tapered finger, Microcephaly, Flexion contracture, Porencephalic cyst, Limitati... ORPHA:2836
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Prematurely aged appea... ORPHA:1318
Den Hoed-De Boer-Voisin Syndrome
Widely spaced teeth, Amelogenesis imperfecta, 2-3 toe syndactyly, Scoliosis, Smooth philtrum, Glo... OMIM:619229
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aor... ORPHA:261537
Coffin-Siris Syndrome 12
Micrognathia, High palate, Hippocampal atrophy, Patent foramen ovale, Joint laxity, Short stature... OMIM:619325
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Respiratory insufficiency, Bell-sha... OMIM:615633
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Depressed nasal ridge, High palate, Biparietal narrowing, Sh... ORPHA:261337
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, H... OMIM:616546
Cardiofaciocutaneous Syndrome 3
Short stature, Ventricular septal defect, Short neck, Pectus excavatum, Reduced bone mineral dens... OMIM:615279
3Mc Syndrome 1
Conjunctival telangiectasia, Dental crowding, Atrial septal defect, Clinodactyly of the 5th finge... OMIM:257920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Micrognathia, Short neck, Flexion contracture, Knee flexion contracture, Downturned corners of mo... OMIM:300868
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Toe syndactyly, Short stature, Camptodactyly of finger, Proximal placement of ... ORPHA:261211
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Exaggerated cupid's bow, Optic nerve hypoplasia, Sagittal craniosyno... OMIM:615879
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Ventricular septal defect, Craniosynostosis, Microcephaly, Abnormalit... ORPHA:251038
Silver-Russell Syndrome
Dental crowding, Micrognathia, Downturned corners of mouth, Abnormal appendicular skeleton morpho... ORPHA:813
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Short stature, Ventricular septal defect, Short neck, Os... ORPHA:85194
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Severe short stature, Broad long bones, Micromelia, Microcephaly, Increased sku... ORPHA:1422
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Death in infancy, Severe short stature, Cerebral degeneration, Abnor... OMIM:230500
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor, Microcephaly OMIM:500007
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Penoscrotal hypospadias, Cryptorchidism, Glandular hypospadias, Retrognathia, Thin... ORPHA:456328
Gomez-Lopez-Hernandez Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Short stature, Craniosynostosis, Ant... OMIM:601853
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Short stature, Ventricular septal defect, Craniosynostosis, Micr... ORPHA:166035
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Thoracic scoliosis, Redundant skin, Equinus calcaneus, Micrognathia, Prominent veins ... ORPHA:536532
Gapo Syndrome
Prominent scalp veins, Anteverted nares, Facial palsy, Depressed nasal bridge, Micrognathia, Redu... OMIM:230740
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Micrognathia, Cough, Atrial septal defect, Microdontia, Intrauterine growth retardation, Patent f... OMIM:620005
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Anteverted nares, Microcephaly, Absent radius, Preaxial hand pol... ORPHA:233
Meckel Syndrome, Type 4
Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly,... OMIM:611134
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Papilledema, Depressed nasal bridge, Facial palsy, Sclerotic s... OMIM:269500
Fanconi Anemia, Complementation Group F
Sacral dimple, Short stature, Pneumonia, Absent thumb, Microcephaly, Short thumb, Cryptorchidism,... OMIM:603467
8p23.1 deletion syndrome
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Cortical dysplasia, Tracheoesophageal fistula, Cleft palate, A... ORPHA:261272
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl... OMIM:619522
Axial Mesodermal Dysplasia Spectrum
Short stature, Micrognathia, Missing ribs, Short neck, Abnormal rib morphology, Tracheoesophageal... ORPHA:1834
Loeys-Dietz Syndrome 4
Joint laxity, Striae distensae, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of... OMIM:614816
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Growth delay, Pu... ORPHA:2414
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Short neck, Deep philtrum, Pectus carinatum, High palate, Widely spaced teeth, Atrial septal defe... OMIM:617506
Intellectual Developmental Disorder, Autosomal Dominant 47
Joint laxity, Ventricular septal defect, Prominent nasal bridge, Microcephaly, Cryptorchidism, Ce... OMIM:617635
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Short nose, Macroorchidism, O... OMIM:300143
Lathosterolosis
Micrognathia, High palate, Ambiguous genitalia, male, Thick upper lip vermilion, Anteverted nares... OMIM:607330
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral c... OMIM:618652
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Cryptorchidism, Bulbous nose, Small hand, Short foot, Thin vermilion border, Hypog... OMIM:300869
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Cerebral calcification, Short stature, Pneumoni... ORPHA:1855
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Pallor, Focal cortical dysplasia, Polymicrogyria, Flushing ORPHA:98820
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Depressed nasal bridge, Pneumonia, Recurrent upper respiratory tract infections... OMIM:614069
2Q37 Microdeletion Syndrome
Short neck, Downturned corners of mouth, Short palm, Clinodactyly of the 5th finger, Broad colume... ORPHA:1001
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu... OMIM:614249
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Small scrotum, Abnormal palmar dermatoglyphics, Microcephaly, Postnatal gro... ORPHA:2728
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Mic... ORPHA:438216
Baraitser-Winter Cerebrofrontofacial Syndrome
Micrognathia, Prominent nose, Long nose, Short neck, Subcortical cerebral atrophy, Pachygyria, Op... ORPHA:2995
Mckusick-Kaufman Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Aganglionic megacolon, Ventricular septal de... ORPHA:2473
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Partial ... OMIM:619512
Say-Barber-Miller Syndrome
Micrognathia, Patellar hypoplasia, Knee flexion contracture, High palate, Ulnar deviation of the ... ORPHA:3132
Kenny-Caffey Syndrome, Type 1
Long clavicles, Proportionate short stature, Carious teeth, Thin clavicles, Small hand, Thin ribs... OMIM:244460
Yuan-Harel-Lupski Syndrome
Joint laxity, Thin upper lip vermilion, Wide nose, Sandal gap, Bicuspid aortic valve, Ventricular... OMIM:616652
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th... OMIM:604757
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin OMIM:603165
Basilicata-Akhtar Syndrome
Smooth philtrum, Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, W... OMIM:301032
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Short stature, Ventricular septal defect, Joint stiffness, Postnatal growth retardation, Cleft pa... OMIM:620210
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Depressed nasal bridge, Wide anterior fontanel... ORPHA:2143
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Short stature, Ventricular septal defect,... OMIM:250410
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Tapered... OMIM:618430
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Micrognathia, Scaling skin, Atrial septal defect, Decrea... ORPHA:1662
Distal Deletion 9P
Hypospadias, Abnormality of the dentition, Short neck, High, narrow palate, Wide nasal bridge, Cl... ORPHA:1642
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Skin vesicle, ... ORPHA:99843
Mullegama-Klein-Martinez Syndrome
Micrognathia, Prominent nose, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Short ... OMIM:301022
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect, Flexion contracture, Cleft palate, Talipes equinovar... OMIM:147800
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Mowat-Wilson Syndrome
Bifid scrotum, Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aor... ORPHA:2152
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Cerebellar vermis hypoplasia, Rectourethral fistula, High palate... OMIM:300000
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Anteverted nares, Absent septum pellucidum, Protruding tongue, Microcephaly,... ORPHA:96147
Keutel Syndrome
Wide nose, Ventricular septal defect, Short stature, Depressed nasal bridge, Underdeveloped nasal... ORPHA:85202
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Wide mouth, Macroglossia, Evert... OMIM:616789
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Redundant neck skin, Dental crowding, Short neck, Rectal prolapse, Short metatarsal, High palate,... OMIM:617157
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Holoprosencephaly
Hypoplasia of penis, Short neck, Deep philtrum, Depressed nasal ridge, Abnormal form of the verte... ORPHA:2162
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aor... ORPHA:261552
Seckel Syndrome 9
Atrial septal defect, Short stature, Ventricular septal defect, Microcephaly, Micrognathia, Asthm... OMIM:616777
Encephalopathy Due To Sulfite Oxidase Deficiency
Microcephaly, Thick vermilion border, Long philtrum, Short nose, Abnormal pattern of respiration ORPHA:833
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Tented upper lip vermilion, Kyphoscoliosis, Microcephaly, Multiple prenata... OMIM:618644
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Agenesis of c... ORPHA:2556
Noonan Syndrome 8
Relative macrocephaly, Short stature, Ventricular septal defect, Short neck, Cryptorchidism, Pleu... OMIM:615355
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno... OMIM:617952
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... OMIM:602111
Okamoto Syndrome
Tented upper lip vermilion, Redundant neck skin, Primum atrial septal defect, Downturned corners ... ORPHA:2729
Laron Syndrome
Limb undergrowth, Delayed menarche, Severe short stature, Short long bone OMIM:262500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned cor... OMIM:620186
Ivic Syndrome
Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb,... ORPHA:2307
Faciocardiomelic Syndrome
Osteopenia, Anteverted nares, Depressed nasal bridge, Microcephaly, Micrognathia, Cuboid-shaped v... OMIM:612731
7Q31 Microdeletion Syndrome
Atrial septal defect, Wide nasal ridge, Prominent nose, Postnatal growth retardation, Hypoplasia ... ORPHA:251061
Noonan Syndrome 1
Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, High palate, Atrial s... OMIM:163950
Beck-Fahrner Syndrome
Ventricular septal defect, Microcephaly, Cardiomegaly, Hip dysplasia, High palate, Macrocephaly, ... OMIM:618798
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Finger syndactyly, Abnormal dental morphology, Abnormal dental e... ORPHA:2092
Incontinentia Pigmenti
Delayed eruption of teeth, Short stature, Kyphoscoliosis, Conical tooth, Microcephaly, Erythema, ... OMIM:308300
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Short stature, Jaundice, Growth delay, Pallor OMIM:615631
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Respiratory insufficiency, Hypoplastic left heart, Cerebellar hypoplas... OMIM:616276
Adnp Syndrome
Respiratory distress, Single transverse palmar crease, Abnormal finger morphology, Advanced erupt... ORPHA:404448
Barber-Say Syndrome
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, High palate, Wide... OMIM:209885
Pseudo-Torch Syndrome 1
Microretrognathia, Cerebral calcification, Anteverted nares, Microcephaly, Cleft lip, Jaundice, H... OMIM:251290
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis, Curved middle phalanx of the 4th toe, Microretrognathia, Arachnodactyly, An... ORPHA:276413
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... ORPHA:860
Trichothiodystrophy
Osteopenia, Multiple joint contractures, High, narrow palate, Partial agenesis of the corpus call... ORPHA:33364
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Short stature, Sandal gap, Micromelia, Postnatal growth retardation, Si... OMIM:614800
Ollier Disease
Micromelia, Joint stiffness, Precocious puberty, Osteolysis, Skin ulcer, Platyspondyly, Abnormal ... ORPHA:296
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... ORPHA:570
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux, Aganglionic megac... OMIM:235750
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Small scrotum, Microcephaly, Cryptorchidism, Optic atrophy, Death in childh... OMIM:615597
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Single transverse palmar crease, Micrognathia, Flexion contracture, Pectus carinatum,... OMIM:130070
Limb Body Wall Complex
Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,... ORPHA:2369
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cyanosis, Microcephaly, Cardiomegaly, Optic atrophy, Abnormal basal gan... ORPHA:391428
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Progressive microcephaly, Long philtrum OMIM:614741
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depress... ORPHA:93258
Velocardiofacial Syndrome
Short stature, Ventricular septal defect, Abnormality of the hand, Microcephaly, Underdeveloped n... OMIM:192430
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... OMIM:619854
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot p... ORPHA:210548
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Broad skull, Short philtrum, Atrial septal defect, Micro... ORPHA:163979
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Prominent nasal bridge, Micromelia, Microcephaly, Abnormality o... ORPHA:2220
Distal Deletion 15Q
Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Generalized joint laxity, 2... ORPHA:1596
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasia, Cerebellar vermis hypoplas... OMIM:619841
Fanconi Anemia, Complementation Group B
Death in infancy, Hypergonadotropic hypogonadism, Ventricular septal defect, Absent thumb, Short ... OMIM:300514
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Anteverted nares, Microcephaly, Partial agenesis of the corpus callosu... OMIM:234050
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Narrow chest, Absent or minimally ossified vertebr... ORPHA:93271
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Partial agenesis of the corpus callosum, ... OMIM:615948
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Short nose, Broad columella, Downturned corners of mouth, Widely spaced t... OMIM:617865
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Prominent nose, Tibial bowi... ORPHA:453510
American Trypanosomiasis
Aganglionic megacolon, Myocarditis, Dyspnea, Cardiomyopathy, Pallor, Cough ORPHA:3386
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Respiratory fa... OMIM:620278
Leber Congenital Amaurosis 14
Optic disc pallor, Pallor OMIM:613341
Septopreoptic Holoprosencephaly
Megalencephaly, Hypoplasia of the pons, Microcephaly, Precocious puberty, Perisylvian polymicrogy... ORPHA:280195
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Hypospadias, Depressed nasal bridge, Microcephaly, Micrognathia, Crypto... OMIM:603736
Aspergillosis
Chronic lung disease, Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obs... ORPHA:1163
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Aspartylglucosaminuria
Mandibular prognathia, Beaking of vertebral bodies, Abnormal morphology of ulna, Malabsorption, J... ORPHA:93
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Joint laxity, Thin upper lip vermilion, Wide nose, Overriding aorta, Sandal gap, Bicuspid aortic ... ORPHA:477817
Acute Myelomonocytic Leukemia
Dyspnea, Abnormality of the gingiva, Pallor ORPHA:517
Phelan-Mcdermid Syndrome
Sacral dimple, Ventricular septal defect, Microcephaly, Micrognathia, Bulbous nose, Dental malocc... OMIM:606232
Radial Ray Hypoplasia With Choanal Atresia
Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin... OMIM:179270
Fanconi Anemia, Complementation Group P
Short stature, Absent thumb, Microcephaly, Short thumb, Cryptorchidism, Hypoplasia of the radius,... OMIM:613951
Fetal Akinesia Deformation Sequence 1
Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa... OMIM:208150
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ... ORPHA:487796
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Diastema, Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb OMIM:179250
Pallister-Killian Syndrome
Congenital hip dislocation, Small scrotum, Tented upper lip vermilion, Single transverse palmar c... OMIM:601803
Deeah Syndrome
Short neck, High palate, Short philtrum, Death in childhood, Micropenis, Death in infancy, Neonat... OMIM:619004
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax... OMIM:614976
Rauch-Steindl Syndrome
Sacral dimple, Short stature, Miscarriage, Depressed nasal bridge, Microcephaly, Postnatal growth... OMIM:619695
Congenital Rubella Syndrome
Short stature, Ventricular septal defect, Microcephaly, Jaundice, Atrial septal defect, Intrauter... ORPHA:290
Beta-Thalassemia
Hypogonadotropic hypogonadism, Skin ulcer, Reduced bone mineral density, Respiratory insufficienc... ORPHA:848
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Short stature, Anteverted nares, Limited elbow movement, Limited wrist move... OMIM:617809
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Broad nasal tip, Short neck, Small hand, Wide nasal base, Broad columella, Depressed ... ORPHA:488434
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Short stature, Primary microcephaly OMIM:245570
Vater/Vacterl Association
Abnormal nasopharynx morphology, Preaxial polydactyly, Abnormal sternum morphology, Triphalangeal... OMIM:192350
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Short stature, Microcephaly, Submucous cleft hard palate, Aortic valve ste... OMIM:617660
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... ORPHA:254864
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Respiratory distress, Tongue atrophy, Respiratory failure requiring assisted... OMIM:211530
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Warburg Micro Syndrome 2
Small scrotum, Overlapping toe, Prominent nasal bridge, Microcephaly, Postnatal growth retardatio... OMIM:614225
Choanal Atresia
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Nasal congestion, Pol... ORPHA:137914
X Small Rings
Joint laxity, Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal... ORPHA:96201
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Birk-Barel Syndrome
Microretrognathia, Reduced subcutaneous adipose tissue, Sacral dimple, Tented upper lip vermilion... OMIM:612292
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Reduced cerebral white matter volume, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced ... OMIM:280000
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Micrognathia, Abnormality of the dentition, Long fingers, Cortical dys... OMIM:617557
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Microcephaly, Micrognathia, Trismus, Brachioradialis areflexia,... OMIM:616271
Floating-Harbor Syndrome
Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligodontia, Short phil... ORPHA:2044
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Polymicrogyria, Respiratory distress OMIM:616974
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventr... ORPHA:210122
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Dubowitz Syndrome
Single transverse palmar crease, Micrognathia, High palate, Clinodactyly of the 5th finger, Synda... OMIM:223370
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Short stature, Ventricular septal defect, Anteverted nares, Aplasia/Hypoplasia of the cerebellar ... ORPHA:75389
Peroxisome Biogenesis Disorder 5A (Zellweger)
Single transverse palmar crease, Micrognathia, High palate, Atrial septal defect, Pachygyria, Age... OMIM:614866
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Cleft soft palate, Intestinal malrotation, Optic nerve hypoplasia, Microcephaly, C... OMIM:619321
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Finger syndactyly, Short stature, Open bite,... ORPHA:2907
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Neurocardiofaciodigital Syndrome
Syndactyly, Optic disc pallor, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Tetralo... OMIM:619869
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Cerebellar vermis hypoplasia, Small scrotum, Short neck, High palate, Bifi... OMIM:620330
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Meckel Syndrome 12
Agenesis of cerebellar vermis, Anteverted nares, Rocker bottom foot, Microcephaly, Micrognathia, ... OMIM:616258
Costello Syndrome
Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Micrognathi... OMIM:218040
Cat-Eye Syndrome
Short stature, Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Anal atresia ORPHA:195
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short stature, Pectus excavatum, Hypoplasia of the zygomatic bone, Macroc... ORPHA:2835
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Short stature, Anteverted nares, Depressed nasal bridge, Malabsorption, Protruding ton... OMIM:242860
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Noonan Syndrome 10
Relative macrocephaly, Atrial septal defect, Short stature, Ventricular septal defect, Short neck... OMIM:616564
Walker-Warburg Syndrome
Hypoplasia of penis, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Cryptorc... ORPHA:899
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature, Micrognathia, Cleft palate, Bifid uvula OMIM:606164
Keppen-Lubinsky Syndrome
Tented upper lip vermilion, Micrognathia, Flexion contracture, High palate, Short philtrum, Gingi... ORPHA:435628
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short stature, Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly OMIM:113301
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Single transverse palmar crease, Clinodactyly of the 5th finger, Atrial se... ORPHA:459070
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, 2-3 toe cutaneous synd... OMIM:129400
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,... OMIM:300707
Tetrasomy 18P
Microcephaly, Large hands, Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum ORPHA:3307
Witteveen-Kolk Syndrome
Proximal placement of thumb, High, narrow palate, Cortical dysplasia, High palate, Male urethral ... OMIM:613406
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Megalencephaly, Kyphosis, T... OMIM:603387
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Reduced cerebral white m... OMIM:614961
Arterial Tortuosity Syndrome
Joint laxity, Ventricular hypertrophy, Arachnodactyly, Convex nasal ridge, Progeroid facial appea... OMIM:208050
Poems Syndrome
Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Metaphyseal sclerosis, Pericardial e... ORPHA:2905
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,... ORPHA:2062
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Single transverse palmar cre... OMIM:300912
22Q11.2 Deletion Syndrome
Micrognathia, Short neck, Short philtrum, Abnormality of the uterus, Atrial septal defect, Short ... ORPHA:567
Osteogenesis Imperfecta, Type Vii
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... OMIM:610682
Transaldolase Deficiency
Ventricular septal defect, Depressed nasal bridge, Short neck, Wide anterior fontanel, Deep philt... OMIM:606003
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... OMIM:156230
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... ORPHA:217093
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Radial deviation of the 3rd finger, Co... OMIM:149730
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... OMIM:252940
Mosaic Variegated Aneuploidy Syndrome
Apnea, Micrognathia, Depressed nasal ridge, Atrial septal defect, Aplasia/Hypoplasia of the cereb... ORPHA:1052
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature, Trismus, Submucous cleft hard palate, Short dis... OMIM:609166
Tetraamelia Syndrome 2
Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Cleft palate, Gl... OMIM:618021
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... ORPHA:50251
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Absent septum pellucidum, Single transverse palmar cre... OMIM:613884
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Short stature, Anteverted nares, Depressed nasal bridge, Hypoplasia of the pons, Wide... OMIM:616430
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forear... OMIM:600383
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Khan-Khan-Katsanis Syndrome
Sacral dimple, Cerebellar vermis hypoplasia, Short stature, Tented upper lip vermilion, Postaxial... OMIM:618460
Fanconi Anemia, Complementation Group W
Absent thumb, Microcephaly, Hypoplasia of the radius, Growth delay, Abnormal radial ray morpholog... OMIM:617784
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Hypoplasia of the brainstem, Clinodactyly of the 5th finger, Micrope... ORPHA:464306
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Prominent nasal bridge, Microcephaly, Long nose, Cryptorchidism, Broad nasal tip, ... OMIM:616541
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Narrow chest, Mic... OMIM:618268
9q subtelomeric deletion syndrome
Anteverted nares, Microcephaly, Protruding tongue, Abnormal heart morphology, Short nose DECIPHER:52
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Isolated Atp Synthase Deficiency
Respiratory distress, Short stature, Microcephaly, Dilated cardiomyopathy, Optic atrophy, Hypogon... ORPHA:254913
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... ORPHA:217085
Fanconi Anemia, Complementation Group E
Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Absent thumb, Absent radius, Short ... OMIM:600901
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Ventricular septal defect, Cryptorchidism, Secondary microce... OMIM:613730
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Hypo... OMIM:616816
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Flexion contracture, Left ventricular hypertr... OMIM:616733
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Micrognathia, Pectus excavatum, Dyspnea, Thick lower lip vermilion, Narrow... ORPHA:555877
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Abnormal tibia morphology, High palate, Atrial septal defect, Abnormal d... ORPHA:363700
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, External genital hypoplasia, Postaxial hand polydactyly, Dilated cardiomyo... OMIM:615981
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Intellectual Developmental Disorder, Autosomal Dominant 58
Short stature, Dental crowding, Single transverse palmar crease, Protruding tongue, Microcephaly,... OMIM:618106
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Hypospadias, Miscarriage, Short... ORPHA:2438
Keutel Syndrome
Cerebral calcification, Sinusitis, Miscarriage, Short hallux, Ventricular septal defect, Cartilag... OMIM:245150
Williams Syndrome
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Redundant skin, Micrognathia, Cardiomegal... ORPHA:904
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Microcephaly, Cerebellar hypoplasia, Clinodactyly, Short nose OMIM:618087
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Chromosome Xp11.23-P11.22 Duplication Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Precocious puberty, 2-3 toe cutaneous syndacty... OMIM:300801
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Prominence of the premaxilla, Short stature, Microcephaly, Prominent nose, ... OMIM:614886
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Overlapping toe, Ventricular septal defect, Microcephaly, Partial age... OMIM:617478
Stt3B-Cdg
Respiratory distress, Small scrotum, Microcephaly, Cryptorchidism, Optic atrophy, Intrauterine gr... ORPHA:370924
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Ma... OMIM:601356
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Micrognathia, Microcephaly, Jaundice, Hip dysplasia,... OMIM:208085
1Q41Q42 Microdeletion Syndrome
Short stature, Hypergonadotropic hypogonadism, Depressed nasal bridge, Broad nasal tip, Underdeve... ORPHA:250999
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Weill-Marchesani Syndrome
Ventricular septal defect, Short stature, Short thumb, Limitation of joint mobility, Pulmonic ste... ORPHA:3449
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati... ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Ectoderma... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Ectoderma... ORPHA:363958
Spondyloocular Syndrome
Osteopenia, Long toe, Short stature, Duodenal ulcer, Arachnodactyly, Femur fracture, Overlapping ... OMIM:605822
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Prominent nose, Bilateral cryptorchidism, High, narrow palate, Short philtrum, W... ORPHA:466791
Elsahy-Waters Syndrome
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteri... OMIM:211380
Fanconi Anemia, Complementation Group A
Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Absent thumb, Absent radius, Short ... OMIM:227650
Cat Eye Syndrome
Anal stenosis, Short stature, Intestinal malrotation, Ventricular septal defect, Rectal fistula, ... OMIM:115470
Juvenile Polyposis Of Infancy
Atrial septal defect, Short stature, Depressed nasal bridge, High, narrow palate, Rectal prolapse... ORPHA:79076
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... ORPHA:968
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Downturn... ORPHA:398069
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... ORPHA:70
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Short stature, Microcephaly, Malabsorption, Asthma, Fle... OMIM:601675
Fanconi Anemia, Complementation Group D2
Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Absent thumb, Absent radius, Esopha... OMIM:227646
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Flexion contracture, Depressed nasal ridge, Abno... ORPHA:847
Poikiloderma With Neutropenia
Joint laxity, Short stature, Depressed nasal bridge, Micrognathia, Joint stiffness, Carious teeth... OMIM:604173
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia ORPHA:99772
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Respiratory ... ORPHA:1461
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Ventricular septal defect, Respiratory failure, Hypertrophic cardiomyopa... OMIM:616277
X-Linked Intellectual Disability, Nascimento Type
Hypointensity of cerebral white matter on MRI, Hypoplasia of the pons, Deep philtrum, Downturned ... ORPHA:163956
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Esophageal atresia... ORPHA:77298
Myoectodermal Gonadal Dysgenesis Syndrome
Single transverse palmar crease, Clitoral hypoplasia, Cutaneous finger syndactyly, Scaling skin, ... OMIM:618419
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Thin upper lip vermilion, Clitoral hypertrophy, Toe syndactyly, Short stature, Mitral atresia, Bu... ORPHA:140952
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Pneumonia, Cardiomeg... OMIM:601005
Gómez-López-Hernández Syndrome
Thin vermilion border, Cerebellar vermis hypoplasia, Short stature, Anteverted nares ORPHA:1532
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Classical Ehlers-Danlos Syndrome
Osteopenia, Abnormality of the temporomandibular joint, Osteoarthritis, Generalized joint laxity,... ORPHA:287
Retinitis Pigmentosa 51
Polydactyly, Pallor OMIM:613464
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Distal Deletion 12Q
Single transverse palmar crease, Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasi... ORPHA:96149
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... OMIM:615779
Houge-Janssens Syndrome 3
Single transverse palmar crease, Microcephaly, Broad nasal tip, Muscular ventricular septal defec... OMIM:618354
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R... OMIM:265120
Histiocytoid Cardiomyopathy
Cyanosis, Ventricular septal defect, Cardiomegaly, Tachypnea, Optic atrophy, Cleft palate, Polycy... ORPHA:137675
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Short stature, Hypospadias, Coronary sinus enlargement, Microcephaly, Microgna... OMIM:619268
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Short stature, Kyphoscoliosis, Microcephaly, Abnormality of the dentition, Prominent nose, 2-3 to... ORPHA:391307
Genitopatellar Syndrome
Congenital hip dislocation, Small scrotum, Hypoplastic ischia, Micrognathia, Prominent nose, Knee... OMIM:606170
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Depressed nasal ridge, Respiratory failure, Narrow chest, Limb undergrowth, Abnorm... ORPHA:1861
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Fetal Valproate Spectrum Disorder
Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi... ORPHA:1906
Roifman-Chitayat Syndrome
Osteopenia, Short metacarpal, Depressed nasal bridge, Pneumonia, Short neck, Thin lower lip vermi... OMIM:613328
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Chronic gastritis, Mandibular prognathia, Mild postnatal growth retardation, Single t... OMIM:150230
Myopathy With Extrapyramidal Signs
Joint laxity, Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Microcepha... OMIM:615673
Mowat-Wilson Syndrome
Bifid scrotum, Large basal ganglia, Pectus carinatum, Widely spaced teeth, Atrial septal defect, ... OMIM:235730
Paternal Uniparental Disomy Of Chromosome 6
Joint laxity, Neonatal respiratory distress, Ventricular septal defect, Micrognathia, Postnatal g... ORPHA:96191
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Anal stenosis, Depressed nasal bridge, Optic nerve hypoplasia, Microgna... OMIM:620029
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Nasal polyposis, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiec... OMIM:606763
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou... ORPHA:2378
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Prominent superficial veins, Narrow nasal ridge, Underdeveloped nasal alae, Pyloric s... OMIM:614438
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... OMIM:610978
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Vacterl With Hydrocephalus
Absence of the sacrum, Micrognathia, Esophageal atresia, Cryptorchidism, Hypoplasia of the radius... ORPHA:3412
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Depressed nasal bridge, Broad nasal tip, Short neck, Cleft lip, Kyphosis, Hemivert... OMIM:618223
Distal Deletion 19P
Long toe, Vaginal hernia, Arachnodactyly, Ventricular septal defect, Hypoplasia of the maxilla, C... ORPHA:96129
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Ventricular septal defect, Op... OMIM:620025
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Microcephaly, Cryptorchidism, Thi... OMIM:617798
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... ORPHA:464329
Menke-Hennekam Syndrome 1
Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ... OMIM:618332
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Optic atrophy, Tachypnea, Respira... OMIM:614299
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Joint laxity, Megalencephaly, Thick lower lip vermilion, Wide nasal bridge, Wide mouth, Macroceph... OMIM:611087
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excava... OMIM:618975
Spontaneous Periodic Hypothermia
Abnormal pattern of respiration, Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Monosomy 22
Finger syndactyly, Wide nose, Single transverse palmar crease, Microcephaly, Short neck, Clubbing... ORPHA:96123
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent outer dy... OMIM:616037
Congenital Varicella Syndrome
Intrauterine growth retardation, Cerebral cortical atrophy, Micromelia, Microcephaly ORPHA:291
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia ORPHA:596
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough ORPHA:77260
Myopathy And Diabetes Mellitus
Hyporeflexia of upper limbs, Achilles tendon contracture, Shoulder girdle muscle weakness, Respir... ORPHA:2596
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory... ORPHA:70587
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Cyanosis, Stridor, Respiratory failure, Paroxysmal d... ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Growt... OMIM:619272
Aicardi-Goutieres Syndrome 1
Intracerebral periventricular calcifications, Short stature, Petechiae, Microcephaly, Basal gangl... OMIM:225750
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Microcephaly, Tapered finger, Broad nasal tip, ... OMIM:619680
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Short stature, Hypospadias, Ventricular sept... ORPHA:209905
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Ischemic stroke, Pleural empye... ORPHA:2038
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
Idiopathic Pulmonary Hemosiderosis
Crackles, Cardiomegaly, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Pallor, Cough ORPHA:99931
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Phocomelia, Atrial septal defect, Microgastria, Agenesis of corpus ca... ORPHA:2538
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Premature graying of hai... OMIM:194050
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Sinusitis, Nasal polyposis, Abnormal pericardium morphology, Cutis marmor... ORPHA:183
9Q33.3Q34.11 Microdeletion Syndrome
Small scrotum, Single transverse palmar crease, Short neck, Patellar hypoplasia, Bilateral coxa v... ORPHA:495818
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Flexion contracture, Abnormal form of th... ORPHA:581
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276575
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Micropenis, Abnormality of the cervical spine, Hypospadias, Tapered finger, Cryptorchidism, Short... ORPHA:464311
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Atrial septal... ORPHA:353281
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276580
Kabuki Syndrome 1
Congenital hip dislocation, Premature thelarche, Micrognathia, High palate, Prominent fingertip p... OMIM:147920
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Thin upper lip vermilion, Central apnea, Lumbar hyperlordosis, Progressive flexion ... ORPHA:522077
X-Linked Sideroblastic Anemia
Dyspnea, Pallor ORPHA:75563
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Respiratory distress, Swelling of proximal interphalangeal joints, Cutis marmorata... ORPHA:3260
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Dermotrichic Syndrome
Depressed nasal bridge, Aganglionic megacolon, Proportionate short stature, Short nose, Abnormal ... ORPHA:99688
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Depressed nasal bridge, Tapered finger, Precocious puberty, Cleft lip, Hyperlordosis, Hip disloca... OMIM:301066
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short stature, Tapered finger, Microcephaly, Hypoplasia of the corpus... OMIM:618367
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Hypoplastic right heart, Redundant skin, Kyphoscoliosis, Bil... OMIM:617403
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Short statur... OMIM:602782
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Small scrotum, Short stature, Short neck, Abnormal rib morphology, Hemiverte... ORPHA:2234
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Cerebral atrophy, Death in childhood OMIM:613759
Tetanus
Respiratory distress, Stiff neck, Trismus, Tachypnea, Abnormal autonomic nervous system physiolog... ORPHA:3299
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Depressed nasal bridge,... ORPHA:513456
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Single transverse palmar crease, Redundant skin, Micrognathia, Rectal prolapse, Death... OMIM:613177
Acute Interstitial Pneumonia
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... ORPHA:79126
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,... ORPHA:353277
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos... OMIM:252600
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short stature, Underdeveloped nasal alae, Respiratory insufficiency, Glossoptos... ORPHA:2031
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Death in infancy, Cyanosis, Hypospadias, Apnea, Optic neuropathy, Microcephaly... OMIM:252010
Microphthalmia, Syndromic 9
Atrial septal defect, Severe short stature, Short stature, Ventricular septal defect, Micrognathi... OMIM:601186
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D... ORPHA:534
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Cardiomegaly, Pericardial effusion,... ORPHA:555874
Loeys-Dietz Syndrome 1
Joint laxity, Arachnodactyly, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, ... OMIM:609192
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Cyanosis, Increased pulmonary vascular resistance, Nonproductive coug... ORPHA:60025
Macrocephaly/Autism Syndrome
Joint laxity, Depressed nasal bridge, Penile freckling, Cutis laxa, Hydrocele testis, High palate... OMIM:605309
Orofaciodigital Syndrome Type 14
Short neck, Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus callosum, Aplasi... ORPHA:434179
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart mo... OMIM:154500
Feingold Syndrome 1
Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Microcephaly, Micrognathia, Esoph... OMIM:164280
Vici Syndrome
Schizencephaly, Cerebellar vermis hypoplasia, Micrognathia, High palate, Atrial septal defect, Ag... OMIM:242840
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Microcephaly, Scoliosis, Atrial septal defect, Periventricular leukoma... ORPHA:357225
Meckel Syndrome, Type 9
Ambiguous genitalia, Limb undergrowth, Talipes equinovarus OMIM:614209
Hemoglobin D Disease
Pallor ORPHA:90039
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ventricular septal defect, Episodic tachypnea, Pneumonia, Pericardial effus... ORPHA:26793
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Leukoencep... OMIM:220110
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor... ORPHA:2363
Neurodegeneration With Brain Iron Accumulation 2A
Micrognathia, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Short nose OMIM:256600
X-Linked Intellectual Disability, Cantagrel Type
Tented upper lip vermilion, Short philtrum, Hypoplasia of the corpus callosum, Shawl scrotum, Sho... ORPHA:85277
Frontofacionasal Dysplasia
Short stature, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... ORPHA:1791
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Tracheoesophageal fistula, Respiratory insufficiency, Abnormal form of t... ORPHA:93941
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Exaggerated cupid's bow, Tapered finger, Broad nasal tip, Partial agenesis of the corpus callosum... OMIM:619480
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Anteverted nares, Preaxial hand polydactyly, Duplication o... OMIM:263630
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Recurren... OMIM:619769
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Joint laxity, Atrial septal defect, Tented upper lip vermilion, Megalencephaly, Wide mouth, Periv... ORPHA:500533
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... OMIM:610910
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Aplasia/Hypoplasia of the sternum, Left ventricular hyper... ORPHA:1686
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, B... ORPHA:2578
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Ileal atresia, Micrognathia, Micropenis, Agenesis of corpus callosum, ... OMIM:618820
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Micrognathia, Pectus excavatum, High palate, Patent foramen ovale OMIM:619699
Evans Syndrome
Epistaxis, Dyspnea, Jaundice, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Grange Syndrome
Short palm, Syndactyly, Ventricular septal defect, Increased susceptibility to fractures ORPHA:79094
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Bicuspid pulmonary valve, Pectus carinatum, Abnormal sternum... OMIM:610168
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Coccidioidomycosis
Respiratory distress, Abnormal sperm morphology, Osteomyelitis, Pericarditis, Pneumonia, Cough, B... ORPHA:228123
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Lissencephaly, Hypoplasia o... OMIM:619466
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pericardial effusion, Dyspnea, Hemothorax, Hypoxemia, Clubbing of fingers, Elevated pul... ORPHA:199241
Meester-Loeys Syndrome
Relative macrocephaly, Striae distensae, Short stature, Arachnodactyly, Poor wound healing, Gingi... OMIM:300989
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Microcephaly, Protruding tongue, Hand clenching, Thin corpus callosum OMIM:619580
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Short stature, Recurrent fractures, Bowed humerus, Kyphoscoliosis, Dentinogenesis i... OMIM:616507
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose, Polymic... OMIM:618774
Farber Disease
Respiratory distress, Short stature, Abnormality of the hand, Short toe, Flexion contracture, Ost... ORPHA:333
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Cl... ORPHA:99106
Alpha-Mannosidosis, Infantile Form
Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Pectus carinatum, Cortical thicken... ORPHA:309282
Congenital Disorder Of Glycosylation, Type It
Short stature, Ventricular septal defect, Micrognathia, Cardiomegaly, Dyspnea, Pierre-Robin seque... OMIM:614921
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Short stature, Hypospadias, Microcephaly, Submucous cleft hard palate, Flexion contracture, Cereb... OMIM:618891
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... OMIM:612852
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Aganglionic megacolon, Absent septum pellucidum, Hypospadias, Antevert... ORPHA:3339
Leishmaniasis
Abnormal oral mucosa morphology, Skin ulcer, Rhinitis, Pallor, Abnormal oral cavity morphology ORPHA:507
Joubert Syndrome 3
Central apnea, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Anteverted nares, Episodic t... OMIM:608629
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Kcnq2-Related Epileptic Encephalopathy
Apnea, Abnormal globus pallidus morphology, Cerebral atrophy, Facial erythema, Abnormal cerebral ... ORPHA:439218
Alternating Hemiplegia Of Childhood
Respiratory distress, Exaggerated cupid's bow, Apnea, Downturned corners of mouth, Cardiomyopathy... ORPHA:2131
Tolchin-Le Caignec Syndrome
Arachnodactyly, Micrognathia, Precocious puberty, Prominent nose, Submucous cleft hard palate, Wi... OMIM:618971
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Apnea, Optic atrophy, Respiratory distress ORPHA:79097
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Microcephaly, Prominent nose, Abnormal carpal morphology, Madelung deformity, Seve... ORPHA:319675
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Bifid thorac... ORPHA:268249
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... ORPHA:69085
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common at... OMIM:616749
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Apnea, Micrognathia ORPHA:1129
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Cutis marmorata, Esophageal varix, Foot oligodactyly, Trun... OMIM:616589
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Prematur... ORPHA:79474
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Cerebral at... OMIM:620306
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ectodermal dysplasia, Choanal stenosis, Scaling skin, Death in childhood, Atrial septal defect, N... OMIM:308205
Schisis Association
Micromelia, Microcephaly, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cleft ... ORPHA:63862
Delpire-Mcneill Syndrome
Ventricular septal defect, Cortical dysplasia, Hip dislocation, Tracheoesophageal fistula, Agenes... OMIM:619083
Non-Functioning Paraganglioma
Cranial nerve compression, Pallor, Flushing ORPHA:94080
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... OMIM:613426
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology, Short stature ORPHA:2374
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Limited hip extension, Ventricular septal defect, Apnea, Flexion c... OMIM:614653
Oculocerebral Hypopigmentation Syndrome, Cross Type
Arachnodactyly, Short stature, Anteverted nares, Microcephaly, Abnormal thumb morphology, Cryptor... ORPHA:2719
Mucolipidosis Type Ii
Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Patent foramen ovale, Tela... ORPHA:576
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Cortical dysplasia, Atrial septal defect, Pachygyria, Cleft upper lip, Pul... OMIM:100300
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... ORPHA:100057
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Tented upper lip vermilion, Micrognathia, Short neck, Widely-spaced maxillary cent... OMIM:309580
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, High palate, Microdont... OMIM:619777
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Short stature, Anteverted nares, Depressed nasal bridge, Central hypov... ORPHA:293987
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Toe syndactyly, Short stature, Intestinal malrotation, Ventricular septal d... OMIM:619657
Coxoauricular Syndrome
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... ORPHA:1508
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Anteverted nares, Depressed nasal bridge, Tapered finger, Supernumerary tooth, Thin vermilion bor... ORPHA:86818
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Talipes equinovarus, Microcephaly OMIM:150260
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Globus pallidus calcification, Bulbous nose, Wide nasal bridge, Mild sh... OMIM:620292
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Respiratory insufficiency ORPHA:1909
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Short stature, Ventricular septal defect, Pyloric stenosis, Cryptorchidism, Hypoplas... OMIM:218350
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Cyanosis, Dysplastic corpus callosum, ... ORPHA:488627
Fg Syndrome 5
Anteverted nares, Hypospadias, Depressed nasal bridge, Diastema, Long philtrum, Short nose OMIM:300581
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Cerebral atrophy, Secondary microcephaly, Pallor, Cerebellar hypoplasia OMIM:613839
Mesomelic Dysplasia, Savarirayan Type
Short stature, Abnormal thorax morphology, Hip dislocation, Fibular aplasia, Mesomelia, Short tib... OMIM:605274
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... ORPHA:3092
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Barrel-shaped chest, Short stature, Recurrent fractures, Ventricular septal defect, M... OMIM:259770
Monosomy 13Q34
Epistaxis, Prominent nasal bridge, Microcephaly, Micrognathia, Prominent nose, Postaxial hand pol... ORPHA:96168
Gracile Bone Dysplasia
Death in infancy, Short stature, Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Dec... OMIM:602361
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Microcephaly, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Optic a... ORPHA:79282
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Respiratory failure, Arthrogrypo... OMIM:607598
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy, Optic atrophy ORPHA:79312
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Back pain, Bicuspid aortic valve, Single transverse palmar crease, High, narrow pa... OMIM:619475
Meckel Syndrome, Type 1
External genital hypoplasia, Micrognathia, Short neck, Ambiguous genitalia, female, Lobulated ton... OMIM:249000
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Relative macrocephaly, Short stature, Ventricular septal defect, Sho... OMIM:607721
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Transaldolase Deficiency
Abnormal respiratory system physiology, Telangiectasia, Biventricular hypertrophy, Abnormality of... ORPHA:101028
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm... ORPHA:90051
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections... ORPHA:60032
Holoprosencephaly 7
Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Hypoplastic nasal septum, A... OMIM:610828
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum mo... OMIM:613795
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Respiratory distress ORPHA:240103
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Mesomelic short statu... ORPHA:1765
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa m... OMIM:305100
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation, Pectus excavatum, T... ORPHA:2847
Congenital Diaphragmatic Hernia
Hypoxemia, Prominent sternum, Intestinal malrotation, Respiratory distress ORPHA:2140
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Neuroocular Syndrome
Hyperextensibility of the finger joints, Downturned corners of mouth, Widely spaced teeth, Torus ... OMIM:619539
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Hypospadias, Postnatal growth retardation, Cryptorchidism, Dilated ... OMIM:610198
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Optic atrophy, ... OMIM:249270
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Hardikar Syndrome
Short stature, Cleft soft palate, Intestinal malrotation, Ventricular septal defect, Celiac disea... OMIM:301068
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar... OMIM:163400
Beta-Thalassemia Intermedia
Osteopenia, Jaundice, Osteoporosis, Skin ulcer, Increased susceptibility to fractures, Reduced bo... ORPHA:231222
Kagami-Ogata Syndrome
Pursed lips, Respiratory failure requiring assisted ventilation, Anteverted nares, Depressed nasa... ORPHA:254519
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Ventricular septal defect, Microcephaly, Jaundice, Hip dysplasia, Lissencephaly... OMIM:613404
Multifocal Atrial Tachycardia
Ventricular septal defect, Cryptorchidism, Dyspnea, Tachypnea, Pulmonic stenosis, Atrial septal d... ORPHA:3282
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Sp... OMIM:118100
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Flexion contracture, Esophageal varix, Dilated cardiomyopathy, Respiratory ... ORPHA:367
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Split hand, Clubbing, Cl... OMIM:600460
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Short stature, Recurrent fractures, Poor wound healing, Reduced bone mineral density, Scoliosis, ... OMIM:619115
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tented upper lip vermilion, Apnea, Thin vermilion border, Secondary microcephaly, High palate, Hy... OMIM:618056
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Exaggerated cupid's bow, Ventricular sept... OMIM:619306
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Short stature, Secondary microcephaly, Hypoplasia of the corpus callosu... ORPHA:289266
Pachyonychia Congenita
Respiratory distress, Natal tooth, Angular cheilitis, Palmoplantar blistering, Palmoplantar kerat... ORPHA:2309
Carnitine Deficiency, Systemic Primary
Respiratory distress, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic card... OMIM:212140
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Tented upper lip vermilion, Lack of facial subcutaneous fat, Progeroid facia... OMIM:614098
Thakker-Donnai Syndrome
Ventricular septal defect, Anteverted nares, Short neck, Bulbous nose, Hemivertebrae, Tracheoesop... ORPHA:1780
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... ORPHA:284984
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Short neck, Tr... OMIM:614083
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anteverted nares, Short stature, Depressed nasal bridge, Jaundice, Macroglossia, Severe postnatal... OMIM:613038
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Short stature, Leukoencephalopathy, Growth delay, Atrial septal defect, In... OMIM:617744
Kindler Epidermolysis Bullosa
Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Sho... ORPHA:2908
Congenital Myopathy 11
Atrial septal defect, Neonatal respiratory distress, Apneic episodes in infancy, Patent foramen o... OMIM:619967
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... ORPHA:747
Oromandibular Dystonia
Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm... ORPHA:93958
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Microcephaly, Hypoplasia of the radius, Aplasia of the 1st metacarpa... OMIM:617247
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Microcephaly, Wide anterior fontanel, Flexion contracture, Optic atrophy, Cereb... OMIM:609180
Malaria
Respiratory distress ORPHA:673
Succinic Acidemia
Respiratory distress OMIM:600335
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Ecchymosis, Short nose, Bruising susceptibility, Joint hemorrhag... OMIM:277450
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Death in childhood, Abnormal cerebral white matter morphology, Pallor, Microcephaly OMIM:246450
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
White-Kernohan Syndrome
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n... OMIM:619426
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Tularemia
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Cough, P... ORPHA:3392
Intellectual Developmental Disorder With Neuropsychiatric Features
Thin vermilion border, Depressed nasal bridge, Smooth philtrum OMIM:617532
Truncus Arteriosus
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Ab... ORPHA:3384
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Bdv Syndrome
Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Delayed puberty, Atrial septal defec... OMIM:619326
Ehlers-Danlos Syndrome, Vascular Type
Hypermobility of distal interphalangeal joints, Periodontitis, Finger joint hypermobility, Uterin... OMIM:130050
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Short neck, Pachygyria, D... ORPHA:2328
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Short stature, Ventricular septal defect, Depressed nasal bridge, M... OMIM:618325
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... ORPHA:2255
Trichohepatoenteric Syndrome 1
Villous atrophy, Wide nose, Short stature, Hypospadias, Ventricular septal defect, Anteverted nar... OMIM:222470
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... OMIM:182250
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... ORPHA:54028
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip... ORPHA:79404
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Pallor, Short stature OMIM:611590
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Ventricular septal defect, Depressed nasal bridge, Microcephaly, Wide nasal br... OMIM:619418
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Microcephaly, Jaundice, Dilated cardiomyopathy, Tachypnea, Leukoencephalopathy, Pallor ORPHA:20
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Cardiomegaly, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiecta... ORPHA:980
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Intestinal malrotation, Ventricular septal defect, Hiatus hernia, Microcephaly, ... OMIM:616682
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Cryptorchidism, ... ORPHA:3427
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, Microcephaly, Cryptorchidism, 2-3 toe syndactyly, Anteriorly pla... OMIM:618653
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Agenesis of cerebellar vermis, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia,... OMIM:601322
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Microcephaly, Respiratory insufficiency, Cardiomyopathy ORPHA:159
Waldenström Macroglobulinemia
Cutis marmorata, Epistaxis, Malabsorption, Respiratory insufficiency, Urticaria, Gingival bleedin... ORPHA:33226
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Respiratory insufficiency, Cyanosis OMIM:610773
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Bicuspid aortic valve, Apnea, Deep philtrum, Aspiration pneumonia, Atrial septal defe... ORPHA:438213
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Short stature, Single transverse palmar crease, Ventricular septal defect, Mic... OMIM:614947
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Microcephaly, Cerebral atrophy, Growth delay, Wide mo... OMIM:103050
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Depressed nasal bridge, Microcephaly, Long nose, Underdeveloped nasal alae, Hypoplasia of the cor... ORPHA:457351
Multiple Endocrine Neoplasia Type 2
Joint laxity, Reduced subcutaneous adipose tissue, Cervical neoplasm, Aganglionic megacolon, Kyph... ORPHA:653
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial g... OMIM:261740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Short nasal bridge, Microcephaly, Micrognathia, Optic atrophy, Aplasia/Hypoplasia of the corpus c... OMIM:253280
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Scimitar Syndrome
Respiratory distress, Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous ... ORPHA:185
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Cardiomegaly, Pericardial effusion, Dyspnea, Muscu... OMIM:115197
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Atrial septal defect, Exaggerated cupid's bow, Microcephaly, Wide nasal br... OMIM:300896
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Si... ORPHA:2250
Gabriele-De Vries Syndrome
Micrognathia, High palate, Finger joint hypermobility, Patent foramen ovale, Agenesis of corpus c... ORPHA:506358
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Pulmonary arterial hy... ORPHA:70588
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal b... ORPHA:920
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Renal And Mullerian Duct Hypoplasia
Micrognathia, Hydrocele testis, Severe postnatal growth retardation, Anteriorly displaced urethra... OMIM:266810
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Exertional dyspnea, Cyanosis, Microcephaly OMIM:250800
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility, Pallor ORPHA:3226
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Optic atrophy, Respiratory distress ORPHA:289916
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Micrognathia, 2-3 toe cutaneous syndactyly, Downturned corners of mouth, High palate, Hippocampal... OMIM:614756
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Ventriculomegaly With Defects Of The Radius And Kidney
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb OMIM:602200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Multifocal hyperintensity of cerebral white matter on MRI, Respiratory distress, Respiratory fail... ORPHA:308552
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Pectus excavatum, Double outlet right ventricle, Single ventricle of... OMIM:620294
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Myocarditis, Tachypnea, Arthritis, Abn... ORPHA:36234
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Microcephaly OMIM:200130
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Anteverted nares, Single transverse palmar crease, Microcephaly, Osteoporos... OMIM:615273
Osteopetrosis With Renal Tubular Acidosis
Cerebral calcification, Short stature, Recurrent fractures, Persistence of primary teeth, Microgn... ORPHA:2785
Isolated Childhood Apraxia Of Speech
High, narrow palate, Caudate atrophy, Submucous cleft hard palate, Abnormal caudate nucleus morph... ORPHA:209908
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Anteriorly placed anus, Abnormality of the uterus, Triphalang... ORPHA:857
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Hypospadias, Anteverted nares, Cerebral white matter hypoplasia, Tapere... ORPHA:477993
Sotos Syndrome
Cerebellar vermis hypoplasia, No permanent dentition, Flexion contracture, Increased head circumf... ORPHA:821
Early Infantile Epileptic Encephalopathy
Diffuse cerebral atrophy, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Mi... ORPHA:1934
Hereditary Spherocytosis
Jaundice, Gout, Skin ulcer, Growth delay, Pallor, Restrictive cardiomyopathy ORPHA:822
Fadd-Related Immunodeficiency
Ventricular septal defect, Cerebral atrophy ORPHA:306550
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Re... OMIM:609465
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... ORPHA:264675
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Malrotation of small bowel, Or... ORPHA:139466
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Br... OMIM:601927
Hb Bart'S Hydrops Fetalis
Pericarditis, Pallor ORPHA:163596
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, External genital hypoplasia, Optic ... ORPHA:141099
Oculopharyngodistal Myopathy 1
Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf... OMIM:164310
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Pectus excavatum, ... OMIM:619525
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Limitation of joint mobility, Erythema, Growth delay, Arthritis, Urticari... ORPHA:343
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Atrial septal defect, Cerebral calcification, Cerebellar vermis hypoplasi... OMIM:620024
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Depressed nasal bridge, Wide anterior fontanel, Jaundice, Macrocephaly, Neo... OMIM:231680
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Cardiomegaly, Respiratory insufficiency due to muscle weakness, ... ORPHA:365
Episodic Ataxia Type 1
Hand clenching, Kyphoscoliosis, Respiratory distress, Scoliosis ORPHA:37612
Boomerang Dysplasia
Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na... OMIM:112310
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, H... ORPHA:206436
Chromosome 3Q29 Duplication Syndrome
Microcephaly, Bulbous nose, Wide nasal bridge, Multiple palmar creases, Macrocephaly, Short nose OMIM:611936
Cadds
Intrauterine growth retardation, Short nose, Micrognathia, Abnormal cerebral white matter morphology ORPHA:369942
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Hypoplasia of the pyramidal tract, Spinal rigidity, Flexion contracture, Optic atrophy, D... OMIM:253800
Myotonic Dystrophy 1
Respiratory distress, Cerebral atrophy, Facial diplegia, Hypogonadism, Testicular atrophy OMIM:160900
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Azoospermia, Hypogonadism, Pallor OMIM:615234
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Cleft soft palate, Kyphoscoliosis, Atlantoaxial instability, Cutis laxa, Talipes equi... OMIM:614557
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Postnatal growth retardation, Abnormal heart morphology, Coat hanger s... ORPHA:254534
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Kyphosis, Cleft palate, Chylothorax, Te... OMIM:153400
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Cryptorchidism, Respiratory failure, Cerebellar hypoplasia, Atrial septal... OMIM:620327
Diets-Jongmans Syndrome
Thin upper lip vermilion, Short stature, Hypospadias, Ventricular septal defect, Broad nasal tip,... OMIM:618846
Diamond-Blackfan Anemia 8
Short stature, Wide nasal bridge, Growth delay, Short nose, Thick upper lip vermilion OMIM:612563
Pmm2-Cdg
Osteopenia, Mandibular prognathia, Respiratory distress, Multiple joint contractures, Cerebellar ... ORPHA:79318
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy, Apnea, Cerebral atrophy OMIM:261680
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Ventricular septal defect, Increased pulmonary vascular resistanc... ORPHA:97214
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Lymphatic Malformation 6
Short stature, Micrognathia, Pectus excavatum, Hydrocele testis, Pleural effusion, Chylothorax, S... OMIM:616843
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Redundant skin, High, narrow palate, Osteoarthritis, Abnormality of t... ORPHA:286
Buerger Disease
Acrocyanosis, Skin ulcer ORPHA:36258
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Episodic tachypnea, Microcephaly OMIM:615160
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Cryptorchidism, Increased overbite, Macrocephaly, Micropenis OMIM:618504
Hereditary Folate Malabsorption
Pallor, Cerebral calcification, Glossitis, Cheilitis ORPHA:90045
Dextrocardia
Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Abnormal reproductive system mo... ORPHA:1666
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia,... OMIM:243150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Dental... OMIM:225400
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Intestinal malrotation, Short hallux, Micrognathia, Postnatal growt... OMIM:620305
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Ventricular septal defect, Abnormal stomach morphology, Neonatal ... ORPHA:141127
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria, Abnorma... ORPHA:268943
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Concave nasal ridge, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Apneic episodes in infancy, Cerebral atrophy OMIM:301058
Fanconi Anemia, Complementation Group N
Ventricular septal defect, Short neck, Postnatal growth retardation, Short thumb, Microcephaly OMIM:610832
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Overriding aorta, Short stature, Absent septum pellucidum, Hypospadias, Mic... OMIM:309801
Primary Hyperoxaluria
Optic disc pallor, Cutis marmorata, Recurrent fractures, Abnormality of the dentition, Generalize... ORPHA:416
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Cutis marmorata, Macrocephaly, Hypoplasia of the corp... OMIM:613735
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Fucosidosis
Cardiomegaly, Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebrae, Acroc... ORPHA:349
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... OMIM:615512
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Stridor, Cough ORPHA:142
Aortic Arch Interruption
Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aort... ORPHA:2299
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Microcephaly ORPHA:927
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectus excavatum, Orofac... ORPHA:60030
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Stiff neck, Abnormal substantia ... ORPHA:79139
Prolactinoma
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Osteoporosis, Hypogonadism, Pallo... ORPHA:2965
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Pallor ORPHA:263455
Aicardi-Goutières Syndrome
Cerebral calcification, Multiple joint contractures, Short stature, Cutis marmorata, Microcephaly... ORPHA:51
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Intestinal malrotation,... OMIM:270100
Senior-Loken Syndrome 8
Polydactyly, Pallor OMIM:616307
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Decreased ... OMIM:619608
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, A... ORPHA:99104
Cardiac-Urogenital Syndrome
Bifid scrotum, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hyposp... OMIM:618280
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Letterer-Siwe Disease
Stomatitis, Dyspnea, Jaundice, Pallor OMIM:246400
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... ORPHA:1330
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U... ORPHA:100050
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Osteoporosis, Increased susceptibility to fractures, Urticaria, Pallor, Flushing ORPHA:98849
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Cerebral calcification, Cyanosis, Osteomalacia, Ca... ORPHA:51608
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Short stature, Microcephaly, Jaundice, Growth delay, Atrial septal defect,... ORPHA:1667
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Atrial septal defect, Short stature, Dextrocardia, Tracheoesophageal fi... OMIM:277380
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric... ORPHA:500095
Cardiac Valvular Dysplasia 1
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... OMIM:212093
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Growth delay, Thick vermilion border, H... OMIM:252160
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Choanal atresia, Esophageal atresia, Tracheoesophageal fi... ORPHA:1923
Toxic Epidermal Necrolysis
Respiratory distress, Malabsorption, Intestinal perforation, Erythema, Tracheoesophageal fistula,... ORPHA:537
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Broad nasal ti... ORPHA:466943
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Knee flexion contracture, Wrist flexio... OMIM:618733
15Q11.2 Microdeletion Syndrome
Thick cerebral cortex, Ventricular septal defect, Microcephaly, Abnormal heart morphology, Total ... ORPHA:261183
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous ... OMIM:250790
Paganini-Miozzo Syndrome
Mandibular prognathia, Malar flattening, Thin vermilion border, Downturned corners of mouth OMIM:301025
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Short stature, Depressed nasal bridge, Cryptorchidism, Gout, Wide mouth, High palate... OMIM:300661
Klippel-Trénaunay Syndrome
Microcephaly, Pulmonary embolism, Upper limb asymmetry, Respiratory insufficiency, Abnormal tricu... ORPHA:90308
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cranial nerve compression, Pallor, Flushing ORPHA:276621
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Pagod Syndrome
Death in infancy, Abnormal clavicle morphology, Short stature, Microcephaly, Situs inversus total... ORPHA:991
Slc39A8-Cdg
Osteopenia, Short stature, Sudden episodic apnea, Craniosynostosis, Elbow flexion contracture, Kn... ORPHA:468699
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Submucous cleft ha... OMIM:157170
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Myocarditis, Nonproductive cough, Rhinitis, Ecchymosi... ORPHA:319213
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of ... ORPHA:31826
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Scapular winging, Micrognathia, Hyperlordosis, Dental malocclusion, Wid... ORPHA:73223
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Pallor, Exertional dyspnea ORPHA:90033
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90036
Hypermobile Ehlers-Danlos Syndrome
Apnea, Malabsorption, Decreased nerve conduction velocity, Abnormality of the dentition, Osteoart... ORPHA:285
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90037
Non-Functioning Pituitary Adenoma
Macroorchidism, postpubertal, Hypogonadotropic hypogonadism, Female hypogonadism, Hypogonadism, P... ORPHA:91349
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, Ventricular septal defect, Cryptorchidism, Growth delay, Thin corpus ca... OMIM:619908
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O... ORPHA:3016
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Proportionate short stature OMIM:617044
Chiari Malformation Type Ii
Cyanosis, Agenesis of corpus callosum, Inspiratory stridor OMIM:207950
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pe... ORPHA:781
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Jaundice, Dilated cardiomyopathy,... OMIM:619573
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly... OMIM:107480
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture, Cerebral cortical atrophy, Microcephaly OMIM:618201
Diphallia
Bifid scrotum, Atrial septal defect, Rectoperineal fistula, Hypospadias, Absent thumb, Epispadias... ORPHA:227
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Joint stiffness ORPHA:2400
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis, Microcephaly OMIM:619881
Encephalopathy, Ethylmalonic
Focal T2 hyperintense basal ganglia lesion, Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Abnormal globus pallidus morphology, Cardiomyopathy OMIM:251000
Irida Syndrome
Abnormal intestine morphology, Pallor ORPHA:209981
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Digeorge Syndrome
Pilonidal sinus, Short stature, Ventricular septal defect, Microcephaly, Micrognathia, High, narr... OMIM:188400
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Prematurely aged appearance, Poor wound healing, Progeroid facial appe... OMIM:123700
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Absent septum pellucidum, Anteverted nares, Microcep... OMIM:619895
Johanson-Blizzard Syndrome
Single transverse palmar crease, Anteriorly placed anus, Downturned corners of mouth, Death in ch... OMIM:243800
Imerslund-Gräsbeck Syndrome
Pallor, Glossitis, Angular cheilitis ORPHA:35858
Mpdu1-Cdg
Wide anterior fontanel, Optic atrophy, Prominent frontal sinuses, Thin vermilion border, Scaling ... ORPHA:79323
Cold Agglutinin Disease
Back pain, Pallor ORPHA:56425
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Death in infancy, Multiple rib fractures, Femur fracture, Re... OMIM:612301
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Microceph... OMIM:618426
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... ORPHA:2041
Pterygium Colli, Isolated
Short nose OMIM:177990
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Atrial septal defect, Short stature OMIM:620211
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Cleft Soft Palate
Cleft soft palate OMIM:119570
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Autoamputation of digits, Short stature, Jaundice, Osteomyelitis leading to... OMIM:256810
Meacham Syndrome
Death in infancy, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Septate... OMIM:608978
Bardet-Biedl Syndrome 20
Papilledema, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, Asthma,... OMIM:619471
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition... ORPHA:99050
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, Hypoplas... OMIM:200995
Rodrigues Blindness
Narrow nasal bridge, Short stature, Nasal flaring, Ectodermal dysplasia, Tooth malposition OMIM:268320
Slc35A1-Cdg
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pleural effusion, Pro... ORPHA:1546
Tsh-Secreting Pituitary Adenoma
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Pericardial effusion, Osteoporosi... ORPHA:91347
Craniofacial Microsomia 1
Block vertebrae, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Cleft upper ... OMIM:164210
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ventricular septal defect, Ovotestis, Cleft lip, Cleft palate, Sex reversal, Intraut... OMIM:611812
Beta-Ketothiolase Deficiency
Tachypnea, Pallor, Cough ORPHA:134
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology OMIM:614954
Noonan Syndrome 9
Ventricular septal defect, Short stature, Short neck, Cryptorchidism, Pulmonic stenosis OMIM:616559
Primary Dystonia, Dyt4 Type
Respiratory distress, Movement abnormality of the tongue, Open mouth, Kyphoscoliosis ORPHA:98805
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Jaundice, Pallor OMIM:266200
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Intestinal perforation, Myocarditis, Dyspnea, Pleural empyema, Pallor, Septic arthriti... ORPHA:544482
Congenital Enterovirus Infection
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion ORPHA:292
Myelofibrosis
Myelofibrosis, Pallor, Purpura OMIM:254450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Hypogeusia, Growth delay, Decreased sensitivity to hypoxemia, Scoliosis,... OMIM:223900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Azoospermia, Hypogonadism, Pallor ORPHA:300298
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Cortical dysplasia, Porencephalic... OMIM:613001
Dend Syndrome
Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th finger, Sho... ORPHA:79134
1P21.3 Microdeletion Syndrome
Broad nasal tip, Micrognathia, Wide mouth, Macrocephaly, Short nose, Joint hypermobility ORPHA:293948
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Multiple joint contractures, Neuronal loss in basal ... ORPHA:506
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Hereditary Pheochromocytoma-Paraganglioma
Cranial nerve compression, Pallor, Flushing ORPHA:29072
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Short stature, Gingival bleeding ORPHA:98870
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Microcephaly, Situs inversus totalis, Atrioventricular cana... OMIM:605376
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Microcephaly, Bulbous nose, Optic atrophy, Simplified gyral pattern, Lissencephaly, Macrocephaly,... OMIM:615219
Familial Dysautonomia
Orthostatic hypotension, Recurrent fractures, Optic atrophy, Osteolysis, Growth delay, Scoliosis,... ORPHA:1764
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Severe short stature, Anteverted nares, Microcephaly, Optic atrophy, Wide nasal bridge... ORPHA:2526
Listeriosis
Respiratory distress, Back pain, Pericarditis, Stiff neck, Miscarriage, Osteomyelitis, Pneumonia,... ORPHA:533
Lymphatic Malformation 13
Chronic lung disease, Depressed nasal bridge, Hydrocele testis, Neonatal death, Long philtrum, At... OMIM:620244
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Respiratory insufficiency, Pulmonary arterial hypert... OMIM:617021
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys... ORPHA:141083
Shprintzen Omphalocele Syndrome
Neonatal respiratory distress, Lumbar hyperlordosis, Short stature, Kyphosis, Flared nostrils, Wi... OMIM:182210
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Ethylmalonic Encephalopathy
Abnormal basal ganglia MRI signal intensity, Acrocyanosis, Petechiae ORPHA:51188
Frontofacionasal Dysplasia
Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Midline defect of the nose, Bifid no... OMIM:229400
Von Hippel-Lindau Disease
Back pain, Papilledema, Myocarditis, Papillary cystadenoma of the epididymis, Cardiomyopathy, Pal... ORPHA:892
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Tay-Sachs Disease
Aspiration, Pallor OMIM:272800
Holocarboxylase Synthetase Deficiency
Growth delay, Tachypnea, Respiratory distress ORPHA:79242
Aregenerative Anemia
Dyspnea, Bruising susceptibility, Pallor ORPHA:101096
Liver Disease, Severe Congenital
Chronic gastritis, Micrognathia, Cardiomegaly, Protein-losing enteropathy, Cough, Atrial septal d... OMIM:619991
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Congenital hip dislocation, Limb joint contracture, Coxa valga, Achilles tendo... ORPHA:404454
Sheehan Syndrome
Orthostatic hypotension, Dry skin, Pallor ORPHA:91355
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Hy... OMIM:618775
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal... OMIM:122880
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Macroglossia, Large hands, ... OMIM:617107
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Orchi... ORPHA:48435
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Ventricular septal defect, Depressed nasal bridge, High, narrow palate, Short phil... OMIM:619575
Pituitary Apoplexy
Abnormal caudate nucleus morphology, Hypergonadotropic hypogonadism, Pallor ORPHA:95613
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Alström Syndrome
Respiratory distress, Abnormality of dental color, Thoracic scoliosis, Hypoplasia of the Leydig c... ORPHA:64
Childhood Absence Epilepsy
Pallor, Hyperventilation ORPHA:64280
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Gastrointestinal stroma tumor, Myocarditis, Erythema, S... ORPHA:221
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Cerebellar vermis hypoplasia, Concave nasal ridge, Hypodontia, Microdontia,... OMIM:602482
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Hyperintens... OMIM:617239
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Mitochondrial swelling OMIM:615595
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion OMIM:617300
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Molybdenum Cofactor Deficiency, Complementation Group A
Microcephaly, Cerebral atrophy, Growth delay, Thick vermilion border, Hypoplasia of the corpus ca... OMIM:252150
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Dysplast... OMIM:620067
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Short stature, Microcephaly, Growth delay, Macroglossia, Atrial septal defect ORPHA:93947
Acquired Purpura Fulminans
Acrocyanosis, Pyoderma gangrenosum, Macular purpura ORPHA:49566
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Prominent nose, Microcephaly, Erythema, Resp... OMIM:614748
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Pallor ORPHA:331206
Diamond-Blackfan Anemia 12
Ventricular septal defect, Triphalangeal thumb OMIM:615550
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Erythema, Steatorrhea, Pallor, Death in childhood OMIM:557000
Mercury Poisoning
Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Respiratory failure, In... ORPHA:330021
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Osteomyelitis, Gastritis, Pneumonia, Malabsorption, Ileus, Urticaria, Inter... ORPHA:37042
Eosinophilic Fasciitis
Arthritis, Acrocyanosis ORPHA:3165
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Intestinal atresia ORPHA:3405
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Depressed nasal bridge, Short neck, Wide nasal bridge, Growth d... OMIM:600268
Nocardiosis
Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pr... ORPHA:31204
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... OMIM:614779
Syndromic Diarrhea
Villous atrophy, Short stature, Gastritis, Bicuspid aortic valve, Ventricular septal defect, Wide... ORPHA:84064
Plague
Respiratory distress, Chapped lip, Abnormality of the elbow, Enterocolitis, Endocarditis, Skin ul... ORPHA:707
Retinitis Pigmentosa 75
Pallor OMIM:617023
Meacham Syndrome
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Cry... ORPHA:3097
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Depressed nasal bridge, Rectal fistula, Cryptorc... ORPHA:49
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Long nose, Pulmonic stenosis OMIM:610205
Refractory Anemia With Excess Blasts
Anemic pallor, Exertional dyspnea ORPHA:86839
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Dilated cardiomyopathy, Optic atrophy, Episodic respiratory distress, Focal T2 hy... ORPHA:255210
Meckel Syndrome, Type 7
Situs inversus totalis, Postaxial foot polydactyly, Atrial septal defect, Aortic valve stenosis, ... OMIM:267010
Cardiomyopathy, Familial Hypertrophic, 11
Dyspnea, Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaort... OMIM:612098
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Isolated Arrhinia
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... ORPHA:1134
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... OMIM:615067
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Biotinidase Deficiency
Respiratory distress, Apnea, Optic neuropathy, Optic atrophy, Hyperventilation ORPHA:79241
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... ORPHA:95455
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Orthostatic hypotension, Decreased adipose tissue around nec... OMIM:606721
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Pallor OMIM:616959
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Postaxial polydactyly OMIM:219730
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Back pain, Epistaxis, Pneumonia, Dyspnea, Respiratory failure, Cough, Ecchy... ORPHA:340
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Pulmonary arterial hypertension, Ventricular septal defect, Epistaxis ORPHA:369929
Cocaine Intoxication
Respiratory distress, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, Colitis, Ischemi... ORPHA:90068
Myasthenia Gravis
Dyspnea, Acrocyanosis, Rheumatoid arthritis ORPHA:589
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Elliptocytosis 1
Jaundice, Pallor OMIM:611804
Transketolase Deficiency
Ventricular septal defect, Proportionate short stature, Abnormal heart morphology, Atrial septal ... ORPHA:488618
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Pallor OMIM:194380
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Cryptorchidism, Tachypnea, Periventricular white matter hyperintensities,... OMIM:613834
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Diamond-Blackfan Anemia 5
Ventricular septal defect, Short stature, Hypospadias OMIM:612528
Craniorachischisis
Bifid sternum, Anencephaly, Anal atresia, Sirenomelia ORPHA:63260
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposis, Adenomatous colo... ORPHA:329971
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Left ventricular hypertrophy, Pulmonary art... OMIM:615474
Colchicine Poisoning
Respiratory distress, Myocarditis, Cardiorespiratory arrest ORPHA:31824
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Renal Agenesis
Absent vas deferens, Ventricular septal defect, Talipes equinovarus, Anal atresia, Aplasia/hypopl... ORPHA:411709
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Cutis marmorata, Optic neuropathy, Optic atrophy, Pathologic frac... OMIM:259900
Peroxisome Biogenesis Disorder 4B
Single transverse palmar crease, Decreased nerve conduction velocity, Optic atrophy, Macrocephaly... OMIM:614863
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Diamond-Blackfan Anemia 4
Growth delay, Atrial septal defect, Short stature OMIM:612527
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Intrauterine growth retardation, Jaundice, Death in infancy OMIM:617156
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Respiratory insufficienc... ORPHA:1880
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Patent foramen ovale, Anteriorl... OMIM:618748
Gitelman Syndrome
Respiratory distress, Cerebral calcification, Pericardial effusion, Gout, Delayed puberty ORPHA:358
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Intestinal malrotation, Situs inversus totalis, Neonatal death, Aortic valv... OMIM:208540
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Pallor, Cough, Exe... OMIM:233450
Tuberous Sclerosis Complex
Respiratory distress, Cortical dysplasia, Cardiac rhabdomyoma, Respiratory failure, Generalized a... ORPHA:805
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Cerebellar hyp... OMIM:606519
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Norrie Disease
Narrow nasal bridge, Microcephaly, Cryptorchidism, Delayed puberty, Optic atrophy, Thin vermilion... ORPHA:649
Leptospirosis
Respiratory distress, Papilledema, Pericarditis, Jaundice, Cough, Pleural effusion ORPHA:509
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Intrau... ORPHA:436252
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338

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 Pds5b

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 Pds5b.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Pds5btm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pds5btm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pds5btm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Pds5btm1a(EUCOMM)Wtsi PMC5827107

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
Pds5btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pds5btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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