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Gene: Bpnt2 MGI:1915720

Gene Summary

Name:

3'(2'), 5'-bisphosphate nucleotidase 2

Synonyms:

gPAPP, 1110001C20Rik, Impad1, Jaws

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal gait		Bpnt2^{tm1a(KOMP)Wtsi}	HET		Early adult	9.21×10^-06
increased body weight		Bpnt2^{tm1a(KOMP)Wtsi}	HET		Early adult	2.67×10^-05

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

Impad1^{tm1a(KOMP)Wtsi}
knee, WT, Male, WTSI

Impad1^{tm1a(KOMP)Wtsi}
HET, Male, WTSI

View all 173 images

Impad1^{tm1a(KOMP)Wtsi}
tail skin, HET, Female, WTSI

Impad1^{tm1a(KOMP)Wtsi}
tail skin, WT, Female, WTSI

Human diseases caused by Bpnt2 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.

Human diseases associated with Bpnt2 (1 diseases)
Human diseases predicted to be associated with Bpnt2 (1682 diseases)

The table below shows human diseases associated to Bpnt2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Chondrodysplasia With Joint Dislocations, Gpapp Type		Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo...	OMIM:614078

The table below shows human diseases predicted to be associated to Bpnt2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Benign Hereditary Chorea	Gait disturbance	ORPHA:1429
Psychogenic Movement Disorders	Gait disturbance	ORPHA:71519
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Neonatal respiratory distress, Depressed nasal bridge, Ante...	OMIM:618961
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617405
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia...	OMIM:151210
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Micromelia, Postax...	OMIM:617895
Fibrochondrogenesis 2	Anteverted nares, Thoracic hypoplasia, Micrognathia, Metaphyseal cupping, Hypoplastic ilia, Metap...	OMIM:614524
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance...	OMIM:215045
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Iliac crest se...	OMIM:613320
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast...	OMIM:607778
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Abnormal pelvic g...	ORPHA:1803
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Mental Retardation Syndrome, Mietens-Weber Type	Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Narrow nose, Di...	OMIM:249600
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,...	ORPHA:85166
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va...	ORPHA:2831
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Recurrent respiratory infections, Rhizomelia, Anteverted nares, Micromelia...	ORPHA:1842
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Thoracic Dysostosis, Isolated	Pectus excavatum, Recurrent respiratory infections, Short ribs, Bell-shaped thorax	OMIM:187750
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Mesomelic/rhizomelic limb shor...	ORPHA:2632
Fibrochondrogenesis	Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Micromelia, Camptodactyly of fing...	ORPHA:2021
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Micrognathia, Missing ribs, Lateral c...	ORPHA:1801
Thoracopelvic Dysostosis	Neonatal respiratory distress, Short ribs	OMIM:187770
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, High palate, Short philtrum,...	OMIM:201170
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Abnormal thorax morphology, Lateral humeral condyle aplasia, Fibular h...	OMIM:164900
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia...	OMIM:108720
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Cardiorespiratory...	ORPHA:93296
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Narrow chest, Short ribs	OMIM:600972
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Meso...	OMIM:605274
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac...	OMIM:187600
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Recurrent respirato...	OMIM:616716
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial han...	OMIM:241800
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Metaphyseal dysplasia, Thoracic kyphoscoliosis, Proximal placement of thumb, ...	OMIM:613330
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Neonatal respiratory dis...	OMIM:602471
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fing...	ORPHA:141152
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Barrel-shaped chest, ...	OMIM:271700
Van Bogaert-Hozay Syndrome	Depressed nasal bridge, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand,...	OMIM:277150
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,...	ORPHA:2249
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Hypoplast...	ORPHA:56304
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Pectus...	OMIM:223800
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad...	OMIM:171480
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Cleft p...	ORPHA:1988
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis	OMIM:618155
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Short palm, S...	ORPHA:93328
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Atelosteogenesis, Type Ii	Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, La...	OMIM:256050
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Achondroplasia	Respiratory distress, Bowing of the legs, Femoral bowing, Choanal stenosis, Narrow greater sciati...	OMIM:100800
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a...	OMIM:173800
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Narrow chest, Mesomelia, Br...	OMIM:611263
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen...	OMIM:142900
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Orofaciodigital Syndrome Iii	Pectus excavatum, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot...	OMIM:258850
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement	OMIM:276821
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Seckel Syndrome 4	11 pairs of ribs, Steep acetabular roof, Underdeveloped nasal alae	OMIM:613676
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femo...	OMIM:600920
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ...	OMIM:211350
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Anteverted nares, De...	ORPHA:950
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig...	OMIM:206920
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Micrognathia, Duplicati...	ORPHA:2756
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Postaxial polydactyly...	OMIM:258860
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal pala...	ORPHA:1277
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia	OMIM:602196
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal nasal morphology...	ORPHA:2878
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Hypoplastic vertebral bodies, Oligodontia, High palate, Nar...	OMIM:224300
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
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu...	ORPHA:2256
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of t...	OMIM:210720
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Wide nasal bridge, Prenatal death, Camptodact...	OMIM:618393
Odontochondrodysplasia	Respiratory distress, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Microme...	ORPHA:166272
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Mi...	ORPHA:958
Three M Syndrome 1	Scapular winging, Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Pectus...	OMIM:273750
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic ilia, Hy...	ORPHA:1865
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ...	ORPHA:2557
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Micrognathia, Short long bone, Narrow chest, Flared elbow metap...	ORPHA:1423
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Anteverted nares, Fractured radius, Decreased fibular diamet...	OMIM:616897
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose	OMIM:300577
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F...	OMIM:250420
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat...	OMIM:607326
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Stillbirth, Polydact...	ORPHA:294975
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Depressed nasal bridge, Bowed humerus, Ulnar bowing, Femoral bowing,...	OMIM:620076
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ...	OMIM:300863
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Cleft palate, Fibul...	OMIM:164745
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Anteverted nares, Rocker bo...	ORPHA:2616
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro...	OMIM:208500
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Tarp Syndrome	Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial po...	OMIM:311900
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Micrognathia, Clinodactyly, Thick nasal alae	ORPHA:357175
Greenberg Dysplasia	Micromelia, Micrognathia, Beaded ribs, Depressed nasal ridge, Abnormal lung lobation, Tetraphocom...	OMIM:215140
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Short femoral neck, Corner fract...	OMIM:184255
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Diaphanospondylodysostosis	Respiratory distress, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax	ORPHA:66637
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Ulbright-Hodes Syndrome	Respiratory distress, Micrognathia, Phocomelia, Short metacarpal, Depressed nasal bridge, Humeror...	ORPHA:3404
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Midface retrusion, Brachycephaly, Brachydactyly	ORPHA:35099
Seckel Syndrome 1	11 pairs of ribs, Ivory epiphyses, Pes planus, Dental crowding, Selective tooth agenesis, Abnorma...	OMIM:210600
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Lateral clavicle hook, Preaxial polyda...	OMIM:615503
Otoonychoperoneal Syndrome	Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Knee flexion contra...	OMIM:259780
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Bell-shaped thorax, Li...	OMIM:602557
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Flat occiput, Brachycephaly, Long philtrum, Sm...	ORPHA:46
Hypophosphatasia, Infantile	Recurrent respiratory infections, Death in infancy, Apnea, Micromelia, Bowing of the legs, Stillb...	OMIM:241500
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Micrognathia, Clinodactyly, Thick nasal alae	OMIM:615162
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Wide nose, Short femur, Rhizomelia, Sandal gap, Recurrent up...	OMIM:607143
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cle...	OMIM:251230
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares, Aplastic cl...	ORPHA:50945
Cleidocranial Dysplasia	Recurrent respiratory infections, Hypoplastic scapulae, Depressed nasal bridge, Down-sloping shou...	ORPHA:1452
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Atelectasis, Short toe, Short thorax, Broad palm, Respi...	OMIM:269860
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Long palm, Choanal atresi...	ORPHA:2759
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Micrognathia, Postaxial polydactyly, ...	OMIM:617866
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Osteoglophonic Dysplasia	Respiratory distress, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Bro...	OMIM:166250
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Death in infancy, Anteverted nares, Micrognathia, Wide anterior fontanel,...	OMIM:619135
Odontochondrodysplasia 1	Respiratory distress, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short pha...	OMIM:184260
Achondrogenesis, Type Ii	Microretrognathia, Barrel-shaped chest, Broad long bones, Short tubular bones of the hand, Short ...	OMIM:200610
Legg-Calvé-Perthes Disease	Joint dislocation, Cartilage destruction, Abnormality of the dentition	ORPHA:2380
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Depressed nasal bridge, Small abnormally formed scapu...	ORPHA:140
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi...	ORPHA:2752
Spondyloepiphyseal Dysplasia, Nishimura Type	Recurrent respiratory infections, Delayed epiphyseal ossification, Small hand, Cone-shaped epiphy...	OMIM:618618
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Amelia	OMIM:601357
Cleidocranial Dysplasia 1	Respiratory distress, Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finge...	OMIM:119600
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ...	OMIM:615630
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, ...	ORPHA:1145
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossification of carpa...	OMIM:618395
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Craniosynostosis-Mental Retardation-Clefting Syndrome	Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth	OMIM:218650
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Respiratory...	ORPHA:1832
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p...	OMIM:250220
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postax...	OMIM:617102
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Clinodactyly of the 5th finger, Short...	ORPHA:217340
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo...	OMIM:614078
Grant Syndrome	Joint dislocation, Frontal bossing, Bowing of the long bones, Micrognathia, Open bite, Abnormal r...	ORPHA:2097
Campomelic Dysplasia	Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Micrognathia, Delayed ep...	OMIM:114290
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Large ...	ORPHA:2563
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t...	OMIM:212780
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, Cl...	ORPHA:1106
Acrocephalopolydactyly	Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Thoracic hypoplasia, Brachy...	ORPHA:221054
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Flared, irregular rib ends, Micromelia, Coxa vara	ORPHA:168555
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Advan...	OMIM:224400
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Gait disturbance, Obesity	ORPHA:436141
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1040
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Cleft lip, Lateral clavi...	OMIM:617925
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Radial Ray Hypoplasia With Choanal Atresia	Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin...	OMIM:179270
Immunodeficiency 43	Hypoplasia of the ulna, Recurrent respiratory infections, Radial bowing, Lung abscess, Bronchiect...	OMIM:241600
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,...	ORPHA:63446
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections...	ORPHA:60032
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Orofaciodigital Syndrome Ix	Median cleft lip, Toe syndactyly, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna...	ORPHA:93329
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Abnormal...	ORPHA:969
Crane-Heise Syndrome	Finger syndactyly, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Toe syndactyly...	ORPHA:1512
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Prieto Syndrome	11 pairs of ribs, Coxa valga, Prominent nose, Talipes equinovarus, Radial deviation of finger, Cl...	OMIM:309610
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bri...	OMIM:222765
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho...	ORPHA:750
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Short femur, Depressed nasal bridge, Anteverted nares, Metaphyseal spurs, W...	OMIM:618188
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Anteverted nares, Missing ribs, Short thorax, Abnormal rib morp...	ORPHA:1797
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Large hands, Taurodont...	OMIM:157980
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Tarp Syndrome	Finger syndactyly, Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Microgn...	ORPHA:2886
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Turricephaly, Parietal foramina, Brachycephaly, Downturned corne...	OMIM:601224
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal...	ORPHA:2145
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ...	ORPHA:397715
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Coxa valga, Micrognathia, Wide anterior fontanel, Abnormality of the elbow, Brac...	ORPHA:163649
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi...	OMIM:613848
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Mes...	ORPHA:2631
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Broad palm...	ORPHA:93351
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, ...	OMIM:224690
Melnick-Needles Syndrome	Short humerus, Recurrent respiratory infections, Hypoplastic scapulae, Micrognathia, Coxa valga, ...	OMIM:309350
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Perching Syndrome	Respiratory distress, Depressed nasal bridge, Camptodactyly	OMIM:617055
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Chitayat Syndrome	Hallux valgus, Respiratory distress, Recurrent respiratory infections, Depressed nasal bridge, An...	OMIM:617180
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Ap...	ORPHA:93298
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Proximal placement of thumb, Long nose, Bulbous nose, Short sternum,...	OMIM:620113
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ...	ORPHA:1190
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Dental malocclusion, Brachycephaly, Cone-shaped epiphyses o...	OMIM:602849
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp...	ORPHA:2519
Waardenburg Syndrome Type 3	Narrow nasal bridge, Camptodactyly of finger, Atelectasis, Abnormal finger morphology, Cutaneous ...	ORPHA:896
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Ground-...	ORPHA:79126
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Micromelia, Micrognathia, Dyspnea, Hypoplasia of th...	ORPHA:3015
Achondrogenesis Type 1A	Multiple rib fractures, Anteverted nares, Micromelia, Micrognathia, Short thorax, Short foot, Apl...	ORPHA:93299
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Recurre...	OMIM:618356
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Tachypnea, Nasal...	ORPHA:70587
W Syndrome	Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Elbow dislocation...	ORPHA:2804
Kinsship Syndrome	Thin upper lip vermilion, Death in infancy, Pes planus, Micrognathia, Coxa valga, Thick lower lip...	OMIM:619297
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Craniosynostosis 2	Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Trigon...	OMIM:604757
Metatropic Dysplasia	Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Aplasia/Hyp...	ORPHA:2635
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Tibial bowing, Narrow chest, Hypoplastic iliac win...	ORPHA:96334
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal chondrodysp...	OMIM:156400
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal widening of metacarpals, Co...	OMIM:602535
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f...	OMIM:277170
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Death in infancy, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Elbo...	OMIM:616809
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Short palm, Flat occiput, Abnormal thumb morphology, Abnormal finger morphology, Brachycephaly, C...	ORPHA:2511
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger	OMIM:155050
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension, Thoracic hypoplasia	ORPHA:156728
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Micrognathia, Aplasia/Hyp...	OMIM:613803
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Pseudodiastrophic Dysplasia	Frontal bossing, Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow dislocation, Hypoplasia ...	OMIM:264180
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo...	OMIM:252600
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Clark-Baraitser Syndrome	Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Dolichocephaly, Brachycephaly, Dow...	OMIM:617752
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Short sternum, Short nose	OMIM:222448
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, High palate, Clinodactyly of the 5th finger, ...	OMIM:300373
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Duane-Radial Ray Syndrome	Syndactyly, Abnormal nasopharynx morphology, Hypoplasia of the ulna, Radial deviation of the hand...	OMIM:607323
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Short foot, Abnormal hand morphology, Small hand, Cleft palate	OMIM:300261
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Microgna...	OMIM:600325
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Proximal placement of thumb, Limited elbow movement, Micrognathia, Smal...	OMIM:300590
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Micrognathia	ORPHA:2015
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o...	OMIM:274000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty...	ORPHA:2370
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Neonatal respiratory distress, Anteverted nares, Micrognathia,...	OMIM:616266
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate...	OMIM:119800
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abn...	ORPHA:2319
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Cornelia De Lange Syndrome 1	Anteverted nares, Single transverse palmar crease, Depressed nasal bridge, Choanal atresia, Micro...	OMIM:122470
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Recurrent respiratory infections, Depress...	ORPHA:628
Kniest Dysplasia	Respiratory distress, Hip contracture, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped long b...	OMIM:156550
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi...	OMIM:619611
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Dental crowding, Micrognathia, Narrow mouth, Brachycephaly,...	ORPHA:251019
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect...	OMIM:225500
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Anteverted nares, Cone-shaped epiphyses of the phalanges of ...	ORPHA:420794
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Atelectasis, Thin ribs, Neonatal death	OMIM:300219
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Polydactyly, Bronchiolitis	OMIM:615993
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Underdeveloped nasal alae, Limited elbow extension, Short metatarsa...	OMIM:180870
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P...	ORPHA:70588
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Long clavicles, Depressed nasal bridge, Anteverted nares, Increa...	OMIM:269150
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal thorax morphology, Abnormal l...	ORPHA:50251
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Micrognathia, Unilambdoid synostosis, Brachycephaly, Plagiocephaly,...	OMIM:618577
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Choanal stenosis, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Short ...	ORPHA:95699
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As...	ORPHA:2902
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Enlargement ...	OMIM:271650
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Talipes, Pectus excavatum, Cleft palate, High palate,...	ORPHA:376
Opsismodysplasia	Recurrent respiratory infections, Depressed nasal bridge, Tapered finger, Pectus excavatum, Squar...	ORPHA:2746
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Hand polydactyly, Pulmonary hypoplasia...	OMIM:314390
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Neonatal respiratory distress, Depressed nasal bridge, Antevert...	OMIM:610015
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Femoral retroversion	OMIM:607371
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova...	ORPHA:244
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm...	ORPHA:2911
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Beaded ribs, Respiratory insufficiency, Tibial bowing, Thi...	OMIM:166210
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu...	ORPHA:79127
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Frontal bossing, Sandal gap, Camptodactyly of finger, Cr...	ORPHA:1520
Pierpont Syndrome	Short toe, Brachycephaly, Short foot, Broad philtrum, Prominent median palatal raphe, Thin vermil...	OMIM:602342
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Arthrogryposis, Distal, Type 1C	Pursed lips, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Shox-Related Short Stature	Micrognathia, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lo...	ORPHA:314795
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Widely spaced teeth, Narrow chest, Microdontia, Anodontia, Rhiz...	OMIM:218330
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly	OMIM:309545
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha...	OMIM:263520
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Choanal stenosis, Talipe...	OMIM:619859
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Pectus excavatum, Respiratory insufficiency, Restr...	OMIM:614399
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Hip subluxation	OMIM:620200
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares	ORPHA:1450
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly, Cleft palate, High pal...	ORPHA:1784
Non-Distal Duplication 10Q	Frontal bossing, Micrognathia, Brachycephaly, Everted lower lip vermilion, High palate	ORPHA:1695
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Acromesomelia, Sprengel anomaly, Brachydactyly	ORPHA:40
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Bilateral single transverse palmar creases, Micromelia, S...	ORPHA:50810
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Scarf Syndrome	Wide nasal base, Short sternum, Pectus carinatum	ORPHA:3134
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Depressed nasal brid...	OMIM:619479
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Brachycephaly, Craniosynostosis	ORPHA:178377
Diaphanospondylodysostosis	Respiratory distress, Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, ...	OMIM:608022
Pyknoachondrogenesis	Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac wing morphology, Dep...	ORPHA:3003
Distal Duplication 5Q	Hypoplasia of the ulna, Prominent nasal bridge, Absent thumb, Micrognathia, Hypoplasia of the rad...	ORPHA:96097
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Mucolipidosis Ii Alpha/Beta	Micrognathia, Metaphyseal widening, Death in childhood, Depressed nasal bridge, Anteverted nares,...	OMIM:252500
Gómez-López-Hernández Syndrome	Turricephaly, Thin vermilion border, Brachycephaly, Midface retrusion	ORPHA:1532
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Cooper-Jabs Syndrome	Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal ri...	ORPHA:1488
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Long nose, Abnormal rib morphology, Clinodactyly of the 5th...	ORPHA:52
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f...	ORPHA:1837
Scarf Syndrome	Barrel-shaped chest, Prominent nasal bridge, Wide nasal bridge, Pectus carinatum, Short sternum	OMIM:312830
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly	OMIM:614416
Larsen-Like Syndrome	Joint dislocation, Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, C...	OMIM:608545
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Narrow nasal bridge, 11 pairs of ribs, Brachydactyly, Depressed nasal bridge, Broad hallux, Micro...	OMIM:620073
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Short femur, Micrognathia, Abnormal foot morphology, Upper limb undergrowth,...	ORPHA:94068
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Narro...	OMIM:251450
Braddock Syndrome	Neonatal respiratory distress, Missing ribs, Pectus excavatum, Preaxial hand polydactyly, Microgn...	ORPHA:52047
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Micrognathia, Brachycephaly, Ulnar deviation of fin...	ORPHA:1387
Microcephaly-Microcornea Syndrome, Seemanova Type	High palate, Brachycephaly, Narrow mouth	ORPHA:2528
Cornelia De Lange Syndrome 5	Toe syndactyly, Proximal placement of thumb, Micrognathia, Small hand, Brachycephaly, Cleft palat...	OMIM:300882
Pierpont Syndrome	Thin upper lip vermilion, Short toe, Brachycephaly, Broad philtrum, Thin vermilion border, Widely...	ORPHA:487825
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Respiratory failure, Narrow chest, Limb undergrowth, Abnormal metaphysis m...	ORPHA:1861
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnorma...	ORPHA:83
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface...	ORPHA:93258
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Persistent open anterior fontanelle, Arachnodactyly, Dental crowding, Narrow mou...	OMIM:615539
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln...	ORPHA:2741
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Respiratory insufficiency, Missing ribs	ORPHA:1759
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:304120
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Pe...	OMIM:263750
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Synostos...	ORPHA:90652
Opsismodysplasia	Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Short metacarpal...	OMIM:258480
Omodysplasia 1	Short humerus, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, Micrognathia, Pulm...	OMIM:258315
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Clinodactyly, Micrognathia	OMIM:300934
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth tongue, Short tibia...	OMIM:601559
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Moebius Syndrome	Respiratory distress, Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal...	OMIM:157900
Muenke Syndrome	Tarsal synostosis, High, narrow palate, Brachycephaly, Short foot, Cone-shaped epiphysis, Plagioc...	ORPHA:53271
Craniosynostosis 6	Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,...	OMIM:616602
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Tapered finger, Small hand, Brachycephaly, Downturned corners of mouth, Prominent occiput, Hip dy...	OMIM:618672
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia...	OMIM:613390
Coffin-Siris Syndrome 11	Frontal bossing, Prominent metopic ridge, Cleft soft palate, Esophageal atresia, Small hand, Down...	OMIM:618779
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Cleft palate, Ulnar deviation of finger, Flatten...	OMIM:222600
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Short nose	ORPHA:1495
Robinow Syndrome, Autosomal Recessive 2	Frontal bossing, Midface retrusion, Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Ab...	OMIM:618529
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Anteverted nares, Upper limb undergrowth, Thoracic hypoplasia	OMIM:613124
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Frontal bossing, Flat occiput, Micrognathia, High, narrow palate, Faci...	ORPHA:2780
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Achondrogenesis	Anteverted nares, Micromelia, Micrognathia, Short thorax, Aplasia/Hypoplasia of the lungs, Narrow...	ORPHA:932
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Micrognathia, Metaphyseal widening, Pectus carinatum, Depressed nasal bridg...	ORPHA:536467
Interstitial Lung Disease 2	Dyspnea, Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neut...	OMIM:178500
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Rhizomelia, Depressed nasal bridge, Narrow chest	OMIM:617661
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Depressed nasal bridge, Postaxial polydactyly, Postaxial hand polydactyly, ...	OMIM:617088
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Overtubulated long bones, Short clavicles, Convex nasal ...	OMIM:619793
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Cleft soft palate, Gingival overgrowth, Mesomelia, Mi...	OMIM:616331
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Pectus excavatum, Triceps aplasia, Patellar aplasia, Hy...	OMIM:161200
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Anteverted nares, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, C...	OMIM:617877
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot	OMIM:183700
Spondyloepiphyseal Dysplasia, Kimberley Type	Short thorax, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Microretrognathia, Short th...	OMIM:618363
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Short nose	OMIM:615042
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hypoplasia of the od...	OMIM:184250
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Summitt Syndrome	Obesity	OMIM:272350
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age	OMIM:256450
Cardioacrofacial Dysplasia 2	Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurrent patellar dislocatio...	OMIM:619143
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Anosmia, Bronchiectasis, Immotil...	OMIM:244400
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Brach...	OMIM:615761
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Rocker bottom foot, Micrognathia, Respiratory insufficienc...	ORPHA:1143
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, High palate, Foot oligod...	OMIM:276820
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Brachydactyly, Toe syndactyly, Camptodactyly of finger, Open bite, Short toe, Abno...	ORPHA:1327
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal oss...	OMIM:210710
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Patellar hypoplasia, Short femoral neck, Irregular patellae, Broad femoral ...	OMIM:609325
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clinodactyly, Short nose	ORPHA:261120
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo...	ORPHA:3121
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, Anteverted n...	OMIM:600373
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Clubbing, Bronchiecta...	ORPHA:60033
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Prominent metopic ridge, Midface retrusion, Arachnodactyly, Postaxial polydactyl...	OMIM:619721
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma...	ORPHA:429
Orofaciodigital Syndrome Type 5	Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral...	ORPHA:2919
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia	OMIM:300580
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Short sternum, Short nose	OMIM:257300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Dental malocclusion, Coxa vara, ...	OMIM:608940
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Idiopathic Pulmonary Fibrosis	Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,...	ORPHA:2032
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Pectus excavatum, Short nose	OMIM:615398
Turnpenny-Fry Syndrome	Dental crowding, Pectus carinatum, Downturned corners of mouth, Prominent interphalangeal joints,...	OMIM:618371
Congenital Heart Defects And Ectodermal Dysplasia	Frontal bossing, Premature loss of primary teeth, 2-3 toe cutaneous syndactyly, Brachycephaly, Wi...	OMIM:617364
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Tented upper lip vermilion, Talipes equinovarus, Long philtrum	OMIM:619972
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, High, narrow pal...	ORPHA:957
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta	ORPHA:1514
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Pes planus, Arachnodactyly, Cleft lip, Cleft palate, Large hands, Thoracic kyphosis	OMIM:300263
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abnormal pelvis bone ossification, ...	ORPHA:1426
Vulto-Van Silfhout-De Vries Syndrome	Frontal bossing, Tented upper lip vermilion, 2-3 toe cutaneous syndactyly, Thick lower lip vermil...	OMIM:615828
8Q12 Microduplication Syndrome	Narrow mouth, Brachycephaly, Short foot, Everted lower lip vermilion, Long philtrum	ORPHA:228399
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn...	ORPHA:1427
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
Farber Disease	Respiratory distress, Abnormality of the hand, Nodular pattern on pulmonary HRCT, Atelectasis, Sh...	ORPHA:333
Maxillonasal Dysplasia	Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed nasal r...	ORPHA:1248
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
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq...	OMIM:265120
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Short thorax, Small hand,...	ORPHA:1597
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Wide nasal bridge, Abn...	OMIM:109400
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi...	OMIM:602080
German Syndrome	Camptodactyly of finger, Micrognathia, Brachycephaly, Orofacial cleft, Everted lower lip vermilio...	ORPHA:2077
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Bronchospasm, Absent ...	OMIM:612813
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Bowing of the long bones, Abnormal dental enamel morphology,...	ORPHA:1798
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Pectus excavatum, Cleft palate, Pectus carinatum, Glossoptosis, Long philtrum, Abno...	ORPHA:166100
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina, Brachycepha...	OMIM:603116
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Frontal bossing, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig...	ORPHA:314575
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Fing...	OMIM:601492
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Wide nasal bridge, Respiratory insufficiency,...	OMIM:224410
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Proximal upper limb muscle hypertrophy, Pulmonary fibrosis, Bronchiolitis, Exertiona...	ORPHA:254361
Occipital Horn Syndrome	Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate fusion, Pectus...	OMIM:304150
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist...	OMIM:302950
Lujan-Fryns Syndrome	Dental crowding, Arachnodactyly, Camptodactyly of finger, Micrognathia, Abnormality of the dentit...	ORPHA:776
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Dolichoce...	OMIM:615433
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Respiratory insufficien...	ORPHA:1914
Contractural Arachnodactyly, Congenital	Micrognathia, Brachycephaly, Knee flexion contracture, High palate, Wrist flexion contracture, Ar...	OMIM:121050
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Diastema, Conical tooth, Genu valgum, Long thorax...	OMIM:619142
Potocki-Shaffer Syndrome	Micrognathia, Parietal foramina, Brachycephaly, Downturned corners of mouth, Short philtrum	ORPHA:52022
Aase-Smith Syndrome	Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abn...	ORPHA:916
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Underdeveloped nasal alae, Shor...	OMIM:263650
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Aplastic clavicle, Micromelia, Postaxial polydactyly, Preaxial polydactyl...	OMIM:616546
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Prominent metopic ridge, Flat occiput, Overlapping toe, Postaxial polyd...	OMIM:613792
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Micrognath...	OMIM:613849
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Brachycep...	ORPHA:171839
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micrognathia, Pect...	OMIM:616145
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High p...	ORPHA:93307
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Noonan Syndrome 12	11 pairs of ribs, Pectus excavatum, Proximal placement of thumb	OMIM:618624
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs	ORPHA:2204
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin...	ORPHA:435638
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Thin vermilion border, Hig...	OMIM:601853
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short phalanx of fi...	OMIM:266920
Intellectual Developmental Disorder, Autosomal Dominant 26	Micrognathia, Deep philtrum, Brachycephaly, Wide mouth, Thick vermilion border, Short philtrum, N...	OMIM:615834
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Abnormal thorax morphology, Recurrent upper respiratory tract in...	ORPHA:508542
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp...	ORPHA:1529
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal...	ORPHA:3201
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan...	DECIPHER:46
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Anteverted nares, Overlapping toe, Short ...	ORPHA:3309
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Depressed nasal bridge, Broad ha...	OMIM:618019
Micromelic Bone Dysplasia With Cloverleaf Skull	Cloverleaf skull, Micromelia	OMIM:156830
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Brachycephaly, High palate, Clin...	OMIM:201000
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus...	ORPHA:64755
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age	OMIM:601820
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Arachnodactyly, Camptoda...	ORPHA:1716
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Respiratory insufficiency, Ulnar d...	ORPHA:1895
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Tapered finger, Brachycephaly, Downturned corners of mouth, Clinodactyl...	ORPHA:352530
Brachytelephalangic Chondrodysplasia Punctata	Tachypnea, Depressed nasal ridge, Thick nasal alae, Hypoplastic cervical vertebrae, Vertebral hyp...	ORPHA:79345
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto...	OMIM:618736
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Limited elbow movement, Limited w...	OMIM:617809
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ...	OMIM:143095
Orofaciodigital Syndrome Xix	Frontal bossing, Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory...	OMIM:620107
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, ...	OMIM:179613
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity	OMIM:616756
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br...	ORPHA:93259
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Episodic tachypnea, Micrognathia, Apneic episodes in infancy, Supernumerary ribs, Short nose, Thi...	ORPHA:163961
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metap...	ORPHA:177
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Depressed nasal bridge, Micrognathia, Small hand, Upper limb undergrowth, S...	OMIM:608799
Even-Plus Syndrome	Epiphyseal dysplasia, Brachycephaly, Dysplasia of the femoral head, High palate, Hypodontia, Midf...	OMIM:616854
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatarsal, Advanced ossificati...	OMIM:614613
Kury-Isidor Syndrome	Finger syndactyly, Frontal bossing, Tented upper lip vermilion, Rocker bottom foot, Proximal plac...	OMIM:619762
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Hip dysplasia	OMIM:618379
2Q23.1 Microdeletion Syndrome	Tented upper lip vermilion, Sandal gap, Macrodontia, Brachycephaly, Hip dysplasia, Everted lower ...	ORPHA:228402
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Wide nose, Rocker bottom foot, Wide nasal bridge, Adduct...	ORPHA:89844
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Spina bifida occulta...	OMIM:218600
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Rhizomelia, Depressed nasal bridge, Wide anterior fontanel, ...	OMIM:616482
Focal Dermal Hypoplasia	Narrow nasal bridge, Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptoda...	ORPHA:2092
Image Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Micromelia	ORPHA:85173
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ...	ORPHA:2928
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Spondylocostal Dysostosis 5	Pectus carinatum, Posterior rib fusion, Supernumerary ribs, Missing ribs	OMIM:122600
Seckel Syndrome 5	11 pairs of ribs, Prominent nasal bridge, Micrognathia, Short middle phalanx of finger, Clinodact...	OMIM:613823
Hallermann-Streiff Syndrome	Choanal atresia, Tracheomalacia, Micrognathia, Underdeveloped nasal alae, Small hand, Respiratory...	ORPHA:2108
Joubert Syndrome 21	Apnea, Dyspnea, Single naris, Bell-shaped thorax, Respiratory failure, Short ribs, Pulmonary hypo...	OMIM:615636
Pde4D Haploinsufficiency Syndrome	Micrognathia, Short metatarsal, Brachycephaly, Short philtrum, Bilateral coxa valga, Short phalan...	ORPHA:439822
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Downturned corners of mouth, Deep philtrum, Brachycephaly	OMIM:618859
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition	OMIM:618603
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Brachycephaly, Wide mouth, Macroglossia, Plagiocephaly, Everted lower lip vermil...	OMIM:616789
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Cebalid Syndrome	Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, High palate, Dolichocephaly, Midfac...	OMIM:618774
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Micrognathia, Mandibular condyle hypoplasia, Short mandibular rami, ...	OMIM:614669
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Rhizomelia, Abnormal respiratory system physiology, Absent nasal bridge, Mes...	ORPHA:171866
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Cleft lip, Pierre-Robin sequence, Brachycephaly, Cleft palate, Short ph...	OMIM:619504
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Prominent nasal bri...	OMIM:154400
Stickler Syndrome, Type Ii	Arthropathy, Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequen...	OMIM:604841
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submu...	OMIM:614701
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal nasal morphology, Hypoplasia of the radiu...	ORPHA:245
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Scapular winging, Neonatal respiratory distress, Depressed nasal bridge, Singl...	OMIM:618870
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Depressed nasal bridge, Antevert...	OMIM:217980
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Lateral femoral bowing	OMIM:239000
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Thin upper lip vermilion, Frontal bossing, Tapered finger, Brachycephaly, Plagio...	OMIM:616801
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, ...	ORPHA:85199
Spondylocostal Dysostosis 4, Autosomal Recessive	Missing ribs, Pectus excavatum, Reduced forced vital capacity, Reduced forced expiratory volume i...	OMIM:613686
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Pectus carinatum, Narrow greater sciatic notch, Short palm, Neonatal resp...	OMIM:312870
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Proximal placement of thumb, Short hallux, Abnormality of t...	ORPHA:90650
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ...	ORPHA:356961
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Micrognat...	ORPHA:314655
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Abnormal sacroiliac joint morphology, Short thorax, Respirato...	ORPHA:2655
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Brachycephaly, Abnormal metacarpal morphology, Abnormal palate mor...	ORPHA:93262
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Respiratory distress, Recurrent respiratory infections, Anteverted nares, Ov...	OMIM:619383
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec...	OMIM:620233
Intellectual Developmental Disorder, X-Linked 108	Overweight, Broad-based gait, Difficulty walking	OMIM:301024
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Short thumb, Wide ...	ORPHA:401935
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Tapered finger...	OMIM:618430
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Metaphyseal widening, Brachycephaly, Metatarsal osteolysis, Camptodactyly of toe, W...	OMIM:259600
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Prea...	ORPHA:3098
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Missing ribs, Micrognathia, Abnormal rib morphology, Abnor...	ORPHA:3301
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Recurrent respiratory infections, Short nose, Postaxial hand polydactyly	ORPHA:1389
17P13.3 Microduplication Syndrome	Clinodactyly of the 5th finger, Wide nose, Congenital hip dislocation, Short nose	ORPHA:217385
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Metaphyseal sclerosis,...	OMIM:260400
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humero...	OMIM:207410
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Bardet-Biedl Syndrome 8	Brachycephaly, Postaxial polydactyly	OMIM:615985
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty...	OMIM:101200
Pontocerebellar Hypoplasia, Type 3	High, narrow palate, Brachycephaly, Downturned corners of mouth, High palate, Long philtrum	OMIM:608027
Sweeney-Cox Syndrome	2-4 finger syndactyly, Prominent metopic ridge, 2-5 finger cutaneous syndactyly, Flat occiput, Mi...	OMIM:617746
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Prominent nose, Long nose, Elbow dislocation, Bulbous nose, Missing ribs, Depr...	ORPHA:2769
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:620321
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Micrognathia, Hip dysplasia, Clinodactyly of the 5th finger, Sh...	OMIM:617991
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia	ORPHA:296
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn...	ORPHA:363417
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Peho-Like Syndrome	Short nose, Tapered finger	OMIM:617507
Smith-Magenis Syndrome	Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal insufficiency, Brachyce...	OMIM:182290
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Brachycephaly	OMIM:264470
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Wide anterior fontanel, Brachycephaly, Hand polydactyly, High palate, B...	OMIM:239710
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Deep philt...	ORPHA:404440
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Aspergillosis	Sinusitis, Abnormal long bone morphology, Diffuse reticular or finely nodular infiltrations, Coug...	ORPHA:1163
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Frontal bossing, Wide cranial sutures, Broad long bones, Dental crowdi...	OMIM:257850
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Brachycephaly, High palate, Widely spaced teeth, Solitary median maxi...	ORPHA:66625
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Micrognathia, Multiple joint dislocation, Brachycephaly, Knee dislocation, Shoulder dislocation, ...	OMIM:245600
3C Syndrome	Finger syndactyly, Recurrent respiratory infections, Death in infancy, Depressed nasal bridge, Mi...	ORPHA:7
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma...	ORPHA:3138
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Bulbous nose, Wide nasal bridge, Micrognathia	ORPHA:261304
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Nasal congestio...	ORPHA:137914
Kagami-Ogata Syndrome	Long clavicles, Depressed nasal bridge, Anteverted nares, Micrognathia, Coxa valga, Long fingers,...	OMIM:608149
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Abno...	ORPHA:457395
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin...	OMIM:606851
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly, Slender long bone, Decrea...	OMIM:618265
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Short distal phalanx of toe, Short nose, Bilateral triphalangeal ...	OMIM:619356
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Clinodactyly of the 5th finger, Short nose, Anteverted nares, Rocker bottom foot	OMIM:618506
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Intestinal malrotation, Micrognathia, Abnormality of the...	ORPHA:3035
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, 2-3 toe syndactyly, Brachycephaly, High palate, Talipes equinovarus, Short philt...	ORPHA:3306
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br...	ORPHA:93260
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Hip disloca...	OMIM:301041
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Single transverse palmar crease, Micrognathia, Bulbous nose, Clinodactyly, Wide...	OMIM:613604
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Brachycephaly, Camptodactyly of finger, Dolichocephaly	ORPHA:272
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Brachycephaly, Bilate...	OMIM:618142
Ritscher-Schinzel Syndrome 1	Syndactyly, Missing ribs, Micrognathia, Brachycephaly, Cleft palate, Prominent occiput, Anal atresia	OMIM:220210
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Apnea, Micrognathia	ORPHA:1129
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Short thorax, Respiratory insufficiency, Aplasia/Hypoplasia o...	ORPHA:93274
Laurence-Moon Syndrome	Finger syndactyly, Hand polydactyly, Brachycephaly, Brachydactyly	ORPHA:2377
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D...	OMIM:605282
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Ground-glass opacification, Reduced forced vital c...	ORPHA:91359
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Microdontia, Promin...	OMIM:135900
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nares, Micromeli...	OMIM:211750
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Clef...	OMIM:607597
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia	ORPHA:1508
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Tapered finger, Hip dislocation, Brachycephaly, Narrow palate, Wide ...	OMIM:619435
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Craniosynostosis, Long fingers, Brachycephaly, Downturned corners ...	OMIM:613174
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Ground-glass opacification, Nonproductive...	ORPHA:1302
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Brachycephaly, Downturned corners of mouth, Macroglossia, Wide mouth, Plagiocephaly, ...	ORPHA:369891
Crouzon Syndrome	Frontal bossing, Turricephaly, Brachycephaly, Narrow palate, Multiple suture craniosynostosis, Mi...	ORPHA:207
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Dental crowding, Brachycephaly	ORPHA:320385
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Wide anterior fontanel, Metaphyseal widening, Brachyce...	OMIM:263210
Raine Syndrome	Death in infancy, Bowing of the long bones, Natal tooth, Midface retrusion, Micromelia, Micrognat...	OMIM:259775
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Short nose, Anteverted nares	ORPHA:531
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Aplasia/Hypoplasia of...	ORPHA:1225
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Short nose, Depressed nasal bridge, Hypoplastic ischia	OMIM:616910
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Thin upper lip vermilion, Prominent metopic ridge, Brachycephaly, Plagiocephaly, High palate	OMIM:618862
Hypomandibular Faciocranial Dysostosis	Death in infancy, Midface retrusion, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachyce...	ORPHA:1790
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Prominent nasal bridge, Long nose, Short long bone, Short palm, Tracheobronchom...	OMIM:619184
Monosomy 18P	Micrognathia, Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mouth, Short phil...	ORPHA:1598
Teebi Hypertelorism Syndrome 2	Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Clinodactyly of the ...	OMIM:619736
Spondyloepimetaphyseal Dysplasia, Shohat Type	Thoracic hypoplasia, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, F...	ORPHA:93352
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal ...	ORPHA:93271
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Broad metatarsal, Short metatarsal, 2-3 toe syndactyly, Sym...	ORPHA:1540
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sagittal craniosynostosis, Micrognathia, Scaphocephaly, Small hand, Brachycephaly, Cleft palate, ...	ORPHA:459061
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Multiple rib fractures, Rhizomeli...	OMIM:616229
Spondyloepimetaphyseal Dysplasia, X-Linked	Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum...	OMIM:300106
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha...	ORPHA:1647
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Micrognathia, Brachycephaly, Wide mouth, Smooth philtrum	OMIM:615419
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D...	OMIM:101600
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough	ORPHA:77260
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Pectus excavatum, Postaxial hand po...	OMIM:613610
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Anteverted nares, Micromelia, Genu valgum, Convex nasal ridge	ORPHA:1035
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Dental crowding, Brachycephaly	OMIM:615031
Hypertrichosis Cubiti	Abnormality of the elbow, Rhizomelia, Prominent nasal bridge, Micromelia	ORPHA:2220
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Abnormal ...	ORPHA:1458
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Sandal gap, Single transverse palmar crease, Micrognathia, Atelectasis, Recurre...	OMIM:613177
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Respiratory distress, Tapered finger, Hip dysplasia, Finger joint hypermobil...	ORPHA:544503
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulde...	OMIM:620369
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly, Bifid uvula, Cleft palate, Cleft upper lip	OMIM:300958
Richieri-Costa/Guion-Almeida Syndrome	Cleft upper lip, Brachycephaly, Cleft palate, Spina bifida occulta, Abnormal digit morphology	OMIM:268850
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Achard Syndrome	Broad skull, Arachnodactyly, Brachycephaly, Micrognathia	OMIM:100700
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Acromelic Frontonasal Dysostosis	Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia...	OMIM:603671
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta...	OMIM:300990
Rhiny	Short nose, Anteverted nares	OMIM:180360
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cl...	ORPHA:87
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Flat capital femoral epiphys...	OMIM:271510
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Cleft p...	OMIM:108721
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary...	ORPHA:36238
Menkes Disease	Metaphyseal spurs, Metaphyseal widening, Brachycephaly, Death in childhood, Wormian bones	OMIM:309400
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Micromelia, Abnormal thorax morphology, Abnormal rib ...	ORPHA:1318
Congenital Diaphragmatic Hernia	Respiratory distress, Prominent sternum, Pulmonary hypoplasia, Hypoxemia	ORPHA:2140
Hall-Riggs Syndrome	Anteverted nares, Prominent nose, Wide nasal bridge, Abnormal epiphysis morphology, Limb undergro...	ORPHA:2107
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flaring of ...	OMIM:271640
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Micrognathia, Bowing of the legs, Deep philtrum, Metaphys...	OMIM:255800
Martsolf Syndrome 1	Short metacarpal, Micrognathia, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata...	OMIM:212720
Shprintzen-Goldberg Syndrome	Bowing of the long bones, Arachnodactyly, Anteverted nares, Camptodactyly of finger, Micrognathia...	ORPHA:2462
Stevenson-Carey Syndrome	Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Hip dysplasia, Narrow mouth, J...	OMIM:611961
Oculocerebrofacial Syndrome, Kaufman Type	Flat occiput, Arachnodactyly, Micrognathia, High, narrow palate, Brachycephaly, Wide mouth, Abnor...	ORPHA:2707
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Proximal placement of thumb, Limited elbow movement, Micrognathia, Brachycephaly, Downturned corn...	OMIM:610759
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Desbuquois Dysplasia 2	Dental crowding, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short ph...	OMIM:615777
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Short humerus, Recurrent respiratory infections, Short femur, Apnea, Polyda...	ORPHA:17
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a...	OMIM:619148
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulm...	OMIM:612387
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Overlapping...	OMIM:618316
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Flat occiput, Overlapping toe, Down-sloping shoulders, Tapered finger, ...	OMIM:617452
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly...	ORPHA:505237
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Anosmia, Genu valgum, Abnormal metacarpal morphology, Abnormal nostril morphology,...	ORPHA:1295
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Brachycephaly, Hypoplastic vertebral bodies, Plagiocephaly, Clinoda...	ORPHA:2163
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High pal...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High pal...	ORPHA:99228
Monosomy X	Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High pal...	ORPHA:99226
Turner Syndrome	Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High pal...	ORPHA:881
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus exca...	OMIM:271225
Zechi-Ceide Syndrome	Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Long foot, Short distal...	OMIM:612916
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract i...	ORPHA:3078
Xylt1-Cdg	Pes planus, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion border,...	ORPHA:370930
Smith-Kingsmore Syndrome	Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Wide anterior fontanel, Dee...	OMIM:616638
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip	OMIM:615716
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Death in infancy, Neonatal respiratory distress, Anteverted nares, Rocker botto...	OMIM:618947
Caudal Regression Syndrome	Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic verte...	ORPHA:3027
48,Xxxy Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Down-sloping shoulders, Coxa valga,...	ORPHA:96263
Desanto-Shinawi Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Brachycephaly, Midface retrusion	OMIM:616708
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Turricephaly, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered f...	OMIM:613776
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Clubbing, Intraalveolar phosp...	OMIM:610910
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Bulbous...	OMIM:236500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Missing ribs, Rib fusion, Thin ribs, Pulmonary hypoplasia, Short ribs	OMIM:271520
Gorlin Syndrome	Vertebral fusion, Frontal bossing, Arachnodactyly, Carious teeth, Brachycephaly, Brachydactyly	ORPHA:377
Larsen-Like Syndrome, Lethal Type	Neonatal death, Abnormal cartilage matrix, Multiple joint dislocation, Joint dislocation	OMIM:245650
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Short thumb, Sub...	ORPHA:2712
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Micrognathia	ORPHA:2598
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short toe, Brachycephaly, Short phalanx of finger, Mid...	OMIM:600430
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Arachnodactyly, Micrognathia, Narrow mouth, Calcaneovalgus deformity, Adducted thumb...	ORPHA:562528
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Cleft palate, Short distal phala...	OMIM:181180
Tibial Hemimelia	Absent tibia	OMIM:275220
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Pectus carinatum, Aspira...	OMIM:616430
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f...	ORPHA:3103
Meckel Syndrome, Type 8	Depressed nasal ridge, Polydactyly, Talipes equinovarus, Narrow chest, Short nose	OMIM:613885
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Open bite, P...	ORPHA:794
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Frontal bossing, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Clef...	OMIM:612582
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Prominent nose, Tibial bowing, Congenital bilateral hip disloca...	ORPHA:453510
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Hip dislocation, Brachycephaly, Wide mouth, Long philtrum	OMIM:608776
Al Kaissi Syndrome	Thin upper lip vermilion, Macrodontia, High, narrow palate, Small hand, Brachycephaly, Long philt...	OMIM:617694
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Micrognathia	ORPHA:2547
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Pectus excavatum, Abnormality of the elbow, Short nose, Brachydactyly	ORPHA:2701
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Pyloric stenosis, Brachycephaly, Abnormal shape of the occiput, Brachyturricepha...	OMIM:218350
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Cl...	OMIM:613443
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Depressed nasal bridge, Delayed epiphyseal ossification, Abnormal epiphysis...	ORPHA:226313
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Tented upper lip vermilion, Brachycephaly, Smooth philtrum, Micrognathia	OMIM:620240
Xq28 (MECP2) duplication	Narrow mouth, Brachycephaly, Death in childhood	DECIPHER:45
Marshall Syndrome	Thickened calvaria, Frontal bossing, Micrognathia, Abnormality of the dentition, Osteoarthritis, ...	ORPHA:560
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Flaring of lower rib cage, Malabsorp...	OMIM:250250
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Pectus carinatum,...	ORPHA:175
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Hypoplastic scapulae, Micrognathia, Missing ribs, Bulbous no...	ORPHA:3310
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Hamamy Syndrome	Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, T...	OMIM:611174
Chromosome 6Q11-Q14 Deletion Syndrome	Single transverse palmar crease, Prominent nasal bridge, Micrognathia, Broad nasal tip, Talipes e...	OMIM:613544
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Abnormality of the dentition, Small hand, Downturned corners of mouth...	ORPHA:238750
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Respiratory tract infection, Long fingers, Wide nasal bridge, 2-3 toe syndactyly,...	OMIM:218000
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Hip dislocation, Brachycephaly...	OMIM:219150
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Wide nose, Pectus excavatum, Recurrent br...	OMIM:617303
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Micrognathia, Small hand, Fibular hypoplasia, Downturned corners of mou...	ORPHA:444077
Distal Deletion 10Q	Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Brachycephaly, High palate, Clinoda...	ORPHA:96148
Fetal Trimethadione Syndrome	Midface retrusion, High palate, Brachycephaly, Micrognathia	ORPHA:1913
Smith-Magenis Syndrome	Frontal bossing, Toe syndactyly, Tented upper lip vermilion, Delayed eruption of primary teeth, M...	ORPHA:819
49,Xxxxy Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Down-sloping shoulders, Coxa valga,...	ORPHA:96264
Harel-Yoon Syndrome	Pectus carinatum, Short nose, Hip dysplasia, Micrognathia	OMIM:617183
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Single transverse palmar crease, Broad nasal tip, Clinodactyly, Recurrent upper respiratory tract...	ORPHA:391372
Trisomy 9P	Dental crowding, Non-midline cleft lip, Brachycephaly, Impacted tooth, Downturned corners of mout...	ORPHA:236
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Respiratory distress, Limited elbow movement, Hypoplasia of the odontoid pro...	OMIM:183900
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathi...	OMIM:610536
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontal bossing, Abnormality of the dentition, Conical tooth, Brachycephaly, Coronal craniosynost...	ORPHA:228390
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Short thorax, Spina bifida occulta, Genu valgum	ORPHA:2983
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Short nose, Depressed nasal bridge, Metaphyseal dysplasia	OMIM:614732
Nabais Sa-De Vries Syndrome, Type 1	Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clin...	OMIM:618828
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Camptodactyly Syndrome, Guadalajara Type 3	Broad nasal tip, Thickened cortex of long bones, Small hand, Abnormal rib morphology, Depressed n...	ORPHA:488434
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion, Brachycephaly	ORPHA:250977
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Anteverted nares, Bo...	OMIM:272460
Focal Dermal Hypoplasia	Cleft ala nasi, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodact...	OMIM:305600
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Mic...	OMIM:114300
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Micrognathia, Osteoarthritis, Irregular femoral epiphysis, Submucous...	OMIM:108300
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Femoral bowin...	OMIM:616723
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Thin upper lip vermilion, Flat occiput, Dolichocephaly, ...	ORPHA:3041
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Talipes equinovarus, Recurrent acute respiratory t...	OMIM:620011
Split-Hand/Foot Malformation 3	Microretrognathia, Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly	OMIM:246560
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Long hallux, Tapered finger	OMIM:619854
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Genu valgum, Wide mouth, Duodenal atresia	OMIM:617798
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Limited elbow movement, Thick vermilion border, Talipe...	OMIM:300280
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Pectus excavatum, Small hand, Short palm, Cl...	ORPHA:1786
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Marshall Syndrome	Radial bowing, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Hy...	OMIM:154780
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, Brachycephaly, Cleft palate, Thin ve...	ORPHA:254346
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Pulmonary hypoplasia, Mandibular a...	OMIM:202650
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia	OMIM:245590
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft palate, Bifid uvula	ORPHA:2521
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Recurrent respiratory infections, Short femur, Depressed nasal bridge, A...	OMIM:264090
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Craniosynostosis And Dental Anomalies	Flat occiput, Dental crowding, Clinodactyly, Brachycephaly, High palate, Short phalanx of finger,...	OMIM:614188
Axial Mesodermal Dysplasia Spectrum	Missing ribs, Micrognathia, Abnormal rib morphology, Aplasia/Hypoplasia of the lungs, Abnormal pe...	ORPHA:1834
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Single transverse palmar c...	OMIM:305400
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Postaxial hand polydactyly, Narrow chest, Short nose	ORPHA:1702
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Adiposis Dolorosa	Obesity	OMIM:103200
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly, Anal atresia	ORPHA:93950
Down Syndrome	Sandal gap, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower l...	ORPHA:870
Mohr Syndrome	Micrognathia, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndacty...	OMIM:252100
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Loss of ambulation, Unsteady gait, Ataxia, Obesity	OMIM:618124
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Alagille Syndrome 1	Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Abnormal rib morphology,...	OMIM:118450
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra...	OMIM:600081
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Prominent nose, Long fingers, Recur...	OMIM:256040
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic infiltration of the e...	OMIM:615582
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr...	ORPHA:454836
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Thoracolumbar kyphosis, Narrow greater sciatic n...	ORPHA:508533
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Rhizomelia, Abnormality of the hand, Tapered finger, Pectus excav...	ORPHA:319182
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Depressed nasal bridge, Choanal atresia, ...	OMIM:300968
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Abnormal femur morphology, Abn...	ORPHA:2063
Brachycephaly, Trichomegaly, And Developmental Delay	Flat occiput, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin v...	OMIM:617412
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Cleft palate, Narrow mouth	ORPHA:93946
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension, Short nose, Sandal gap	OMIM:300887
Vertebral Hypersegmentation And Orofacial Anomalies	Micrognathia, Submucous cleft hard palate, Prominent occiput, Unilateral cleft lip, Supernumerary...	OMIM:619122
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Enlarged interphalangeal joints, Proximal placement of thumb, Abnormality of the epiphysis of the...	ORPHA:2988
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Brachycephaly, Thin vermilion border, Long phil...	OMIM:614800
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Brachycephaly, Plagiocephaly, Toe clinodactyly, Clinodactyly of the 5th finger	OMIM:619910
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, 2-3 toe cutaneous syndactyly, Brachycephaly, Short foot, High palate,...	OMIM:300260
Crouzon Syndrome	Frontal bossing, Dental crowding, Sagittal craniosynostosis, Brachycephaly, High palate, Lambdoid...	OMIM:123500
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the patella, Short thumb, Aplasia/Hypoplasia of the...	ORPHA:2909
Trisomy 20P	Finger syndactyly, Frontal bossing, Camptodactyly of finger, Micrognathia, Abnormality of the den...	ORPHA:261318
Frank-Ter Haar Syndrome	Flat occiput, Micrognathia, Brachycephaly, High palate, Short palm, Short phalanx of finger, Wide...	OMIM:249420
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ankle clonus, High palate, Brachycephaly, Brachydactyly	OMIM:619995
Perlman Syndrome	Anteverted nares, Micrognathia, Wide nasal bridge, Short nose, Bilateral single transverse palmar...	ORPHA:2849
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Hyperphosphatasia-Intellectual Disability Syndrome	Tented upper lip vermilion, Aganglionic megacolon, Micrognathia, Brachycephaly, Shortening of all...	ORPHA:247262
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly	OMIM:309541
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Micrognathia, Underdeveloped nasal alae, Aplas...	OMIM:268300
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction, Micrognathia	OMIM:612776
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Broad-based gait, Increased body weight	OMIM:614450
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Triphalangeal thumb, Short mandibular rami,...	OMIM:141400
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Short nose, Abnormal epiphysis morphology	ORPHA:90653
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Short metacarpal, Brachydactyly, Midface retrusion, Neonatal epiphysea...	OMIM:101800
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of the distal phalanges of th...	ORPHA:1234
Intellectual Developmental Disorder, Autosomal Dominant 1	Thin upper lip vermilion, Frontal bossing, Sandal gap, Micrognathia, Brachycephaly, Short foot, D...	OMIM:156200
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Short nose, Anteverted nares, Prominent nasal bridge	OMIM:300558
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Obesity	ORPHA:71529
Acromelic Frontonasal Dysplasia	Median cleft lip, Brachycephaly, Patellar hypoplasia, Wide mouth, Talipes equinovarus, Preaxial f...	ORPHA:1827
Osteogenesis Imperfecta, Type Xx	Tented upper lip vermilion, Brachycephaly, Narrow palate, Agenesis of permanent teeth, Plagioceph...	OMIM:618644
Schisis Association	Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia	ORPHA:63862
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology, Micromelia	ORPHA:2772
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Brachycephaly, Symphalangism affecting the phalanges of the hand, Wide mouth, Lo...	ORPHA:1292
Succinic Acidemia	Respiratory distress	OMIM:600335
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Recurrent respiratory infections, Wide nasal bridge, Cough	ORPHA:2314
Aica-Ribosuria Due To Atic Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Frontal bossing, Brachycephaly, Wide mouth	OMIM:608688
5Q14.3 Microdeletion Syndrome	Short nose, Toe syndactyly, Anteverted nares	ORPHA:228384
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Micrognathia, Bulbous nose, 2...	OMIM:620025
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Depressed nasal bridge, Single transverse palmar crease, Sandal gap, Micrognath...	OMIM:617061
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Micrognathia, Bronchiectasis, Chr...	OMIM:242860
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly	ORPHA:210548
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microretrognathia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Broad hallux, Overlapping ...	ORPHA:508498
Williams-Beuren Region Duplication Syndrome	Micrognathia, Diastema, Brachycephaly, High palate, Short philtrum	OMIM:609757
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia...	OMIM:146510
9P13 Microdeletion Syndrome	Microretrognathia, Abnormality of cartilage of external ear, Brachycephaly, High palate, Metopic ...	ORPHA:324313
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Underdeveloped nasa...	ORPHA:2083
Shprintzen-Goldberg Craniosynostosis Syndrome	Frontal bossing, Arachnodactyly, Genu recurvatum, Craniosynostosis, Micrognathia, Metatarsus addu...	OMIM:182212
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Cutaneous syndactyly, Pl...	OMIM:617822
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Acute respiratory distress syndrome, Depressed nasal bridge, Tapered finger, Mi...	OMIM:620005
Tularemia	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Abnormal nasopharyn...	ORPHA:3392
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Brachycephaly, Narrow palate, Short upper lip, Thick vermilion border, Short phi...	ORPHA:364028
Saethre-Chotzen Syndrome	Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger, Clinodactyly of the 5...	OMIM:101400
Sponastrime Dysplasia	Aplasia of the nasal bone, Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia str...	ORPHA:93357
Frontonasal Dysplasia 3	Brachycephaly, Cleft palate	OMIM:613456
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, Arachnodactyly, Metatarsus adductus, High, narrow palate, Calcaneovalgu...	OMIM:612513
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance	ORPHA:93952
Fanconi Anemia, Complementation Group P	Absent thumb, Micrognathia, Short thumb, Bulbous nose, Hypoplasia of the radius	OMIM:613951
Pycnodysostosis	Persistent open anterior fontanelle, Micrognathia, High palate, Hypoplastic iliac wing, Rhizomeli...	ORPHA:763
Kbg Syndrome	Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Rib fusion, Brachycephaly,...	OMIM:148050
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Oligodontia, Acetabul...	OMIM:201180
Verheij Syndrome	Anteverted nares, Broad nasal tip, Hip dislocation, Wide nasal bridge, Short 5th finger, Clinodac...	OMIM:615583
Myopathy And Diabetes Mellitus	Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Respiratory distress	ORPHA:2596
Myhre Syndrome	Craniofacial hyperostosis, Midface retrusion, Narrow mouth, Submucous cleft hard palate, Abnormal...	ORPHA:2588
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Craniofrontonasal Syndrome	Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Cleft upper lip, Abnormali...	OMIM:304110
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Deviation of the 5th toe, Pect...	ORPHA:391408
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Ectopic anus, Aplasia/Hypoplasia of the radius, Cleft palate	ORPHA:2476
Cerebrooculonasal Syndrome	Frontal bossing, Postaxial polydactyly, Craniosynostosis, Proboscis, Postaxial hand polydactyly, ...	OMIM:605627
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Narrow nasal ridge, Micrognathia, Progressive clavicular acroosteolysis...	OMIM:608612
Al-Raqad Syndrome	Short nose, Sandal gap, Brachydactyly	OMIM:616459
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Abnormal pattern of respiration	ORPHA:833
Teebi Hypertelorism Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Small hand, Wide nasal bridge, Broad palm...	OMIM:145420
Meier-Gorlin Syndrome 6	Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Sa...	OMIM:616835
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Brachycephaly, Oligodontia, Abnormal metacarpal morphology, Coronal...	ORPHA:2095
Bardet-Biedl Syndrome 22	Obesity, Large for gestational age	OMIM:617119
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Micromelia, Cleft maxillary alveolar ridge, Finge...	ORPHA:508488
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Rib fusion, Brachycephaly, Cleft palate, Wide mouth, Bifid ribs, Midface retrusi...	ORPHA:1394
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Narrow chest, Short...	OMIM:600092
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Protruding tongue, Brachycephaly, Macroglossia, Everte...	OMIM:610253
20Q11.2 Microduplication Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Trigonocephaly, Tented philtrum, Gingival ov...	ORPHA:363659
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Recurrent respiratory infections, Shoulder flexio...	OMIM:193700
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Prominent nasal bridge, Tapered finger, Bulbous nose, Interphalangeal thumb joint contracture, Sh...	OMIM:613870
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hip dislocation, Brachycephaly, Coxa valga	OMIM:109120
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb	OMIM:617784
Robinow Syndrome	Syndactyly, Brachydactyly, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Micrognathi...	ORPHA:97360
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Broad nasal tip	OMIM:613670
Osteogenesis Imperfecta, Type Xi	Protrusio acetabuli, Brachycephaly, Coxa vara, Wormian bones, Dentinogenesis imperfecta	OMIM:610968
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Congenital Disorder Of Glycosylation, Type Iit	Tented upper lip vermilion, Sandal gap, Small hand, Brachycephaly, Short foot, Short philtrum, Th...	OMIM:618885
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Pectus excavatum, Bulbous nose, Asthma, Wide nasal bridge, 2-3 toe s...	ORPHA:488632
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Pectus excavatum, Atelectasis, Tachypnea, Respiratory insuffici...	OMIM:618278
Humeroradial Synostosis	Humeroradial synostosis, Brachycephaly	OMIM:236400
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Dental crowding, Long fingers, High, narrow palate, Thic...	OMIM:309583
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the dentition, Tapered finger, Thick lower lip vermilion, Brachycepha...	ORPHA:261652
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Choanal atresia, Abnormal morphology o...	ORPHA:84
Dpm1-Cdg	Tented upper lip vermilion, Sandal gap, Flat occiput, Trigonocephaly, Micrognathia, High, narrow ...	ORPHA:79322
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t...	ORPHA:371428
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Clinodactyly of the 4th finger, ...	ORPHA:485405
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi...	OMIM:606763
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Clinodactyly of the 5t...	OMIM:249620
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Brachydactyly, Prominent nasal bridge, Micrognathia, Palmoplantar hype...	OMIM:601812
Occipital Horn Syndrome	High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large ...	ORPHA:198
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress	ORPHA:240103
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Patellar aplasia, Tented philtrum, Brachycephaly, Patellar hypoplasia, P...	ORPHA:495818
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp...	ORPHA:79128
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Gaucher Disease, Perinatal Lethal	Respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Micrognathia, Pulmonary hy...	OMIM:608013
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge	ORPHA:438178
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Frontal bossing, Down-sloping shoulders, Micrognathia, Open bite, Deep philtru...	ORPHA:1974
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s...	ORPHA:2010
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Proximal placement of thumb, Coxa valga, Diastema, Protruding tongue, Gingival overg...	OMIM:212066
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Laurence-Moon Syndrome	Ataxia, Obesity	OMIM:245800
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Tape...	OMIM:616007
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Frontal bossing, Sandal gap, Broad hallux, Dental crowding, Brachycepha...	OMIM:616078
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary teeth, Wide an...	OMIM:620099
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Ulnar deviation of the wrist, Pectus excavatum, Asthma, 2-3 toe sy...	OMIM:618162
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Sandal gap, Dolichocephaly, Long fingers, Brachycephaly, Macroglossia, ...	ORPHA:357001
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Wide mouth, Brachycephaly	OMIM:616083
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cl...	OMIM:612651
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Brachycephaly	ORPHA:1173
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Bifid...	OMIM:603543
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Asthma, Recurrent pneumonia, Concave nasal ridge, Short nos...	OMIM:170100
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti...	ORPHA:90154
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epiphyseal stippling, Short nose, Epistaxis, Short distal phalanx of finger	OMIM:277450
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2189
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Geleophysic Dysplasia 1	Anteverted nares, Camptodactyly of finger, Coxa valga, Pectus excavatum, Hypoplasia of the capita...	OMIM:231050
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections, Short nose, Micrognathia	ORPHA:329178
Keutel Syndrome	Peripheral pulmonary artery stenosis, Sinusitis, Depressed nasal bridge, Cartilaginous ossificati...	OMIM:245150
Chand Syndrome	Atelectasis, Short fifth metatarsal, Depressed nasal bridge	ORPHA:1401
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp...	OMIM:264700
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia	OMIM:614744
Skin Creases, Congenital Symmetric Circumferential, 1	Micrognathia, Long fingers, Brachycephaly, Cleft palate, High palate, Narrow mouth, Long philtrum	OMIM:156610
Beck-Fahrner Syndrome	Brachycephaly, Hip dysplasia, High palate, Long philtrum, Open mouth	OMIM:618798
Kniest Dysplasia	Enlarged epiphyses, Depressed nasal bridge, Abnormality of the epiphysis of the femoral head, Dum...	ORPHA:485
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemothorax, Pu...	ORPHA:199241
Warburg Micro Syndrome 3	Micrognathia, Brachycephaly, Narrow palate, Ankle clonus, Downturned corners of mouth, Clinodacty...	OMIM:614222
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Slender long bone, Cubitus valgus, Short nose, Spina bifida occulta	ORPHA:1185
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Brachycephaly, Orofacial cleft, Cleft palate,...	OMIM:601701
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Mandibuloacral Dysplasia Progeroid Syndrome	Frontal bossing, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Microgna...	OMIM:619127
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Micrognathia, Unilateral radial aplasia, Tapered finger, Partial absence...	ORPHA:476126
Osteogenesis Imperfecta, Type Vii	Death in infancy, Wide cranial sutures, Multiple rib fractures, Rhizomelia, Protrusio acetabuli, ...	OMIM:610682
Congenital Myopathy 9A	Obesity, Akinesia	OMIM:618822
Jacobsen Syndrome	Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Micrognathia, Missing...	OMIM:147791
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Pectus carinatum, Short nose, Hip dysplasia, Micrognathia	ORPHA:496790
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Overlapping toe, Dental crowding, Hip dysplasia, Hip dislocation, Brachycephaly, S...	OMIM:618268
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Enamel hypomineralization, Trapezoidal distal f...	OMIM:307800
Malaria	Respiratory distress	ORPHA:673
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Recurrent pneumonia, Bilateral tali...	OMIM:609465
Adenylosuccinase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Brachycephaly, Wide mouth, Long philtrum, Smoo...	OMIM:103050
Orofacial Cleft 13	Oligodontia, Cleft soft palate, Micrognathia	OMIM:613857
Weill-Marchesani Syndrome 1	Broad skull, Brachycephaly, Narrow palate, Broad phalanges of the hand, Broad ribs, Tooth malposi...	OMIM:277600
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Limited w...	ORPHA:98915
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Mandibular aplasia, Aplasia/Hypoplasia involving the nose, Absent nares, Respiratory distress	ORPHA:990
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Frontal bossing, Congenital hip dislocation, Dolichocephaly, Pyloric st...	ORPHA:457279
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Deep philtrum, Dental ...	OMIM:227330
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Sandal gap, Carious teeth, Small hand, 2-3 toe sy...	OMIM:619229
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections...	OMIM:614069
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Sprengel anomaly	OMIM:601076
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Cough	ORPHA:99825
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Cleft palate, Death in childhood, Narrow chest, Tali...	OMIM:619124
Neurofaciodigitorenal Syndrome	Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphology, Abnormality of the...	ORPHA:2673
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Epiphyseal dysplasia, Metatarsus adductus, Premature osteoarthritis, 2-...	OMIM:611962
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Recurrent respiratory ...	ORPHA:2308
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Complete duplication of thum...	ORPHA:59315
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Micrognathia, Tapered ...	ORPHA:251071
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, ...	ORPHA:319675
Joubert Syndrome 32	Ataxia, Tall stature, Large for gestational age	OMIM:617757
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Elbow dislocation, Irregular femoral epiphysis, Patellar a...	OMIM:613805
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, Broad hallux, Bulbous ...	OMIM:614105
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
White-Sutton Syndrome	Micrognathia, Brachycephaly, Hypoplastic cervical vertebrae, Cleft palate, Downturned corners of ...	OMIM:616364
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia...	OMIM:192445
Microcephaly-Capillary Malformation Syndrome	Wide nose, Clinodactyly, Short distal phalanx of finger, Short nose, Brachydactyly	OMIM:614261
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Neonatal respiratory distress, Recurrent aspiration pneumonia, Single transvers...	ORPHA:79243
Weill-Marchesani Syndrome 2	Short metacarpal, Broad skull, Short metatarsal, Elbow flexion contracture, Narrow palate, Brachy...	OMIM:608328
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly	ORPHA:70472
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Triceps weakness, Cough	ORPHA:86812
Hydrolethalus Syndrome 1	Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
X-Linked Intellectual Disability, Wilson Type	Wide mouth, Thick vermilion border, Brachycephaly	ORPHA:85290
Lymphangioleiomyomatosis	Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Pulmonary infiltrates, Rest...	ORPHA:538
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Brachycephaly, Downturned corners of mouth, W...	ORPHA:79500
Trisomy 12P	Micrognathia, Wide nasal bridge, Large hands, Clinodactyly of the 5th finger, Short nose	ORPHA:1699
2P15P16.1 Microdeletion Syndrome	Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus...	ORPHA:261349
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Pectus excavatum, Short nose, Depressed nasal bridge	ORPHA:2835
Lig4 Syndrome	Malabsorption, Micrognathia, Brachycephaly, Thin vermilion border, Biparietal narrowing, Clinodac...	ORPHA:99812
Aymé-Gripp Syndrome	Thin upper lip vermilion, Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered ...	ORPHA:1272
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Long nose, Clinodactyly, Sho...	OMIM:615866
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Respiratory distress, Respiratory failure requiring assisted ventilation, Re...	OMIM:211530
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Wide nasal bridge, ...	ORPHA:1908
Frontofacionasal Dysplasia	Non-midline cleft lip, Brachycephaly, Cleft palate, Midface retrusion	ORPHA:1791
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Repeated pneumothoraces, Long nose, Pectus excavatum, Camptodactyly, ...	OMIM:617602
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation...	ORPHA:2554
Fetal Hydantoin Syndrome	Short nose, Depressed nasal ridge, Triphalangeal thumb, Short distal phalanx of finger	ORPHA:1912
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Neoplasm of the lung, Cough	ORPHA:142
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Frontal bossing, Sandal gap, Dolichocephaly, High, narrow palate, Submu...	OMIM:612863
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Respiratory distress, Brachydactyly, Recurrent respiratory infections, Antev...	ORPHA:177907
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Malan Syndrome	Pectus excavatum, Long fingers, Short nose, Coxa valga	OMIM:614753
Diamond-Blackfan Anemia 1	11 pairs of ribs, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication ...	OMIM:105650
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Apnea, Single transverse palmar crease, Rocker bottom fo...	ORPHA:521426
Aase-Smith Syndrome I	Death in infancy, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Treacher-Collins Syndrome	Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cle...	ORPHA:861
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Brachycephaly, Hypodontia, Bro...	ORPHA:1236
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Slender long bone, Short nose	ORPHA:561
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Delayed closure of the anterior fontanelle, Micrognathia, Frontal open bite, Wide anterior fontan...	OMIM:225410
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Absent frontal sinuses, Knee flexion contracture, In...	OMIM:305620
Spondylodysplastic Ehlers-Danlos Syndrome	Single transverse palmar crease, Micrognathia, Metaphyseal widening, Abnormal finger morphology, ...	ORPHA:536471
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Respiratory insufficiency, Clinodactyly of the 5th f...	ORPHA:2031
X-Linked Intellectual Disability, Armfield Type	Micrognathia, Abnormality of the elbow, Small hand, Brachycephaly, Cleft palate, Short foot, Down...	ORPHA:85276
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Weiss-Kruszka Syndrome	Anteverted nares, Single transverse palmar crease, Proximal placement of thumb, Clinodactyly of t...	OMIM:618619
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Unilateral cleft palate, Craniosynostosis, Abnormality of the d...	ORPHA:1299
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis	ORPHA:319213
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abnormal rib morphology, Cleft pal...	ORPHA:2167
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Aplasia/Hypo...	ORPHA:570
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Anteverted nares, Prominent nasal bridge, Recurrent pneumonia, Short 5th finger, Acromesomelia, T...	ORPHA:500159
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Thin upper lip vermilion, Congenital hip dislocation, Ulnar deviation of the 3rd finger, Proximal...	ORPHA:456312
Distal Deletion 3P	Micrognathia, Postaxial hand polydactyly, Brachycephaly, Cleft palate, Downturned corners of mout...	ORPHA:1620
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Micrognathia, Brachycephaly, Wide mouth, Large hands, Thin vermi...	ORPHA:2062
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Bulbous nose, Anteverted nares, Short nose	OMIM:616420
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Thick lower lip vermilion, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabu...	OMIM:610442
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Brachycephaly, High palate, Short philtrum,...	OMIM:619244
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Short metatarsal, Oligodontia, High palate, Short palm, Clinodacty...	OMIM:170390
Arterial Tortuosity Syndrome	Respiratory distress, Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necros...	ORPHA:3342
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Broad hallux, Prominent nasal bridge, Micrognathia, Slender finger, Small hand, Tibial...	ORPHA:251028
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Rocker bottom foot, Tapered finger, Narrow mouth, Brachycephaly, Cleft ...	OMIM:601353
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Geleophysic Dysplasia 2	Respiratory insufficiency, Cone-shaped epiphysis, Short foot, Short palm, Pulmonary arterial hype...	OMIM:614185
Mogs-Cdg	Respiratory distress, Hypoventilation, Wide nose, Thoracic scoliosis, Apnea, Overlapping fingers,...	ORPHA:79330
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Micrognathia, Atelectasis, Hip dislocation, A...	ORPHA:534
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Abnormality of the nose, Short thumb, Abnormal thora...	ORPHA:1708
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Fing...	ORPHA:2710
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge...	OMIM:614749
Alg9-Cdg	Villous atrophy, Micrognathia, Brachycephaly, Narrow greater sciatic notch, Bifid uvula, Microret...	ORPHA:79328
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, ...	OMIM:617527
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Gingival overgrowth, Hypoplastic vertebral bodies, Limb undergrowt...	OMIM:230600
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
22Q11.2 Deletion Syndrome	Arachnodactyly, Prominent nasal bridge, Choanal atresia, Micrognathia, Atelectasis, Bulbous nose,...	ORPHA:567
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Micrognathia, Coxa valga, Hammertoe, Hip dysplasia, Short nose, Acetabula...	OMIM:619833
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Flat occiput, Rocker bottom foot, Micrognathia, Metatarsus adductus,...	OMIM:214100
Floating-Harbor Syndrome	11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Prominent n...	OMIM:136140
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosynostosis, Mic...	OMIM:213980
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Gm1 Gangliosidosis	Recurrent respiratory infections, Depressed nasal bridge, Camptodactyly of finger, Broad nasal ti...	ORPHA:354
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus...	ORPHA:521445
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Protruding tongue, Brachycephaly, Gingival overgrowth, Wide mouth	OMIM:618797
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Micrognathia, Brachioradialis areflexia, Bulbous nose, Recurren...	OMIM:616271
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo...	OMIM:611561
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Ayme-Gripp Syndrome	Smooth philtrum, Thin upper lip vermilion, Tapered finger, Abnormality of the dentition, Narrow m...	OMIM:601088
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly, Short nose	OMIM:618087
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Gait disturbance, Increased body weight	ORPHA:589905
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Depressed nasal bridge, Inspiratory stridor, Irregular re...	OMIM:604377
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Pulmonary hypoplasia	OMIM:616733
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Broad ribs, Pulmonary fibrosis, Flaring of rib cage	OMIM:612852
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Frontal bossing, Prominent metopic ridge, Congenital hip dislocation, Exaggerated cupid's bow, Mi...	OMIM:619512
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Pectus excavatum, Bulbous nose, Wide nasal bridge, Short nose	OMIM:618571
Distal Deletion 9P	Enlarged thorax, Short nose, Wide nasal bridge, Brachydactyly	ORPHA:1642
Peho Syndrome	Short nose, Tapered finger	OMIM:260565
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Micrognathia, Wide nasal bridge, Thoracic kyphosis, Short nose	OMIM:620250
Toluene Embryopathy	Tapered finger, Short nose, Micrognathia	ORPHA:1920
Craniofaciofrontodigital Syndrome	Respiratory distress, Depressed nasal bridge, Dyspnea, Pectus carinatum, Large hands, Finger join...	ORPHA:363705
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout...	OMIM:619680
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Frontonasal Dysplasia 2	Craniosynostosis, Conical tooth, Parietal foramina, Calvarial skull defect, Brachycephaly, Widely...	OMIM:613451
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Brachycephaly, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Cleft lip, La...	OMIM:280000
Ring Chromosome 7 Syndrome	Prominent crus of helix, Small hand, Brachycephaly, Cleft palate, Genu valgum, Plagiocephaly, Bif...	ORPHA:1449
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hip dislocation, Wide nasal bridge, Limb undergrowth, Recurrent lower respiratory tract infection...	OMIM:618005
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Tapered finger, Pectus excavatum, Pectus carinatum, Clinodactyly of the 5...	ORPHA:65286
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Micromelia, Underdeveloped nasal alae, Prominent nose, Wide nas...	ORPHA:2637
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic ...	ORPHA:98914
Congenital Myasthenic Syndrome	Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic ...	ORPHA:590
Diamond-Blackfan Anemia 10	Respiratory distress, Supernumerary ribs, Choanal atresia, Micrognathia	OMIM:613309
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Clinodactyly, Wide nasal brid...	OMIM:616894
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol...	ORPHA:233
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Recurrent lower respiratory tract infections, Short nose, Depressed nasal bridge, Micrognathia	OMIM:617802
Fanconi Anemia, Complementation Group I	Short thumb, Hypoplasia of the radius, Short 1st metacarpal, Absent thumb	OMIM:609053
Monosomy 9P	Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Narrow mouth, Postaxi...	ORPHA:261112
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Depressed nasal bridge, Wide anterior fontanel, Pulmonary hypoplasia, Neona...	OMIM:231680
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Dental crowding, Brachycephaly, Plagiocephaly, Short philtrum	OMIM:617296
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Exaggerate...	OMIM:608670
Distal Deletion 12Q	Micrognathia, High, narrow palate, Brachycephaly, Aplasia/Hypoplasia of the middle phalanx of the...	ORPHA:96149
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea...	OMIM:620278
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Plagiocephaly, High ...	OMIM:618106
Schilbach-Rott Syndrome	Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn...	OMIM:164220
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal ala...	OMIM:619005
Ataxia-Oculomotor Apraxia Type 4	Ataxia, Obesity	ORPHA:459033
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Choanal atresia, Abnormal palmar dermatoglyphics,...	OMIM:214800
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Overlapping toe, Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, Cu...	OMIM:613026
Bainbridge-Ropers Syndrome	Death in infancy, Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominen...	OMIM:615485
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Intestinal malrotation, Micrognathia, Metat...	OMIM:244450
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
Relapsing Polychondritis	Chondritis of pinna, Dyspnea, Atelectasis, Cough, Chondritis, Abnormal pattern of respiration	ORPHA:728
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr...	ORPHA:365
Stüve-Wiedemann Syndrome	Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Micromelia, Metap...	ORPHA:3206
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis,...	ORPHA:666
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Orofaciodigital Syndrome Xiv	Microretrognathia, Broad hallux, Micrognathia, Postaxial hand polydactyly, Preaxial polydactyly, ...	OMIM:615948
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Single transverse palmar crease, Rhizomelia, Micrognathia, Bulbous nose, ...	OMIM:614114
Angelman Syndrome	Flat occiput, Protruding tongue, Brachycephaly, Wide mouth, Macroglossia, Widely spaced teeth	OMIM:105830
Auriculocondylar Syndrome	Respiratory distress, Micrognathia, Mandibular condyle hypoplasia, Mandibular condyle aplasia, Ab...	ORPHA:137888
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Nasal congestion, Acute i...	ORPHA:73263
Microcephaly 30, Primary, Autosomal Recessive	Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Lenz-Majewski Hyperostotic Dwarfism	Thickened calvaria, Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, Abno...	ORPHA:2658
Buratti-Harel Syndrome	Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb...	OMIM:619314
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Plagiocephaly, Fused ...	OMIM:619227
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Obesity	OMIM:614651
Leopard Syndrome 1	Scapular winging, Limited elbow movement, Missing ribs, Pectus excavatum, Depressed nasal ridge, ...	OMIM:151100
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Wide nose, Cleft ala nasi, Depressed nasal bridge, Aplasia/Hypop...	OMIM:219000
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Amelia, Ankylog...	OMIM:618021
1Q41Q42 Microdeletion Syndrome	Frontal bossing, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Talipes equin...	ORPHA:250999
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Pulmonary hypoplasia, Talipes ...	ORPHA:86822
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in...	ORPHA:800
Aicardi Syndrome	Anteverted nares, Proximal placement of thumb, Missing ribs, Recurrent pneumonia, Rib fusion, Sup...	OMIM:304050
Elsahy-Waters Syndrome	Brachycephaly, Anteriorly placed anus, Cutaneous finger syndactyly, High palate, Bifid uvula, Abn...	OMIM:211380
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abno...	ORPHA:1752
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fi...	OMIM:616263
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Micrognathia, Prominent nose, Tal...	ORPHA:363528
Mandibulofacial Dysostosis-Microcephaly Syndrome	Preaxial hand polydactyly, Short nose, Micrognathia	ORPHA:79113
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, T...	OMIM:613458
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Tapered finger, Broad nasal tip, Short toe, Wide nasal bridge, Delayed ossification of carpal bon...	OMIM:239300
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Episodic Ataxia Type 1	Hand clenching, Respiratory distress	ORPHA:37612
Slc35A1-Cdg	Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Aicardi Syndrome	Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid ribs	ORPHA:50
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Overlapping toe, Craniosynostosis, Tapered finger, Micrognathia, Narrow...	OMIM:309590
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Flat occiput, Preaxial hand polydactyly, Brachycephaly, ...	ORPHA:2211
De Barsy Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle...	ORPHA:2962
Carpenter Syndrome 2	High, narrow palate, Preaxial polydactyly, Brachycephaly, Coxa vara, Knee flexion contracture, Cu...	OMIM:614976
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, High, narrow...	ORPHA:369837
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia, Pectus carinatum, Limb un...	ORPHA:1855
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys...	ORPHA:141083
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Fanconi Anemia, Complementation Group F	Pneumonia, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly	OMIM:603467
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Micrognathia	OMIM:606164
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Overlapping toe, Broad nasal tip, Micrognathi...	ORPHA:798
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Kleefstra Syndrome Due To 9Q34 Microdeletion	Flat occiput, Protruding tongue, Brachycephaly, Downturned corners of mouth, Macroglossia, Everte...	ORPHA:96147
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose, Multiple palmar creases	OMIM:611936
Mgat2-Cdg	Respiratory distress, Pectus excavatum, Low hanging columella, Recurrent upper and lower respirat...	ORPHA:79329
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Alpha-Mannosidosis, Infantile Form	Thickened ribs, Craniosynostosis, Cranial hyperostosis, Brachycephaly, Genu valgum, Cortical thic...	ORPHA:309282
Isolated Arrhinia	Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas...	ORPHA:1134
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Micrognathia, Neonatal asphyxia, Respiratory insufficiency, Overlapp...	OMIM:608779
Tetrasomy 18P	Large hands, Short nose	ORPHA:3307
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Thin upper lip vermilion, Frontal bossing, Tapered finger, Short thumb, Brachycephaly, Downturned...	OMIM:616728
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Anteverted nares, Convex nasal ridge, Wide nasal ridge, Cam...	ORPHA:3455
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Baraitser-Winter Syndrome 1	Short nose, Anteverted nares, Wide nasal bridge, Duplication of phalanx of hallux	OMIM:243310
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Miller-Dieker Lissencephaly Syndrome	Anteverted nares, Single transverse palmar crease, Micrognathia, Wide nasal bridge, Deep palmar c...	OMIM:247200
Poikiloderma With Neutropenia	Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Recurrent bronchopulmonary infec...	OMIM:604173
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Micrognathia, Long nose, Prominent nose, Abnormal finger morphology, Short palm, Larg...	ORPHA:2636
Warburg Micro Syndrome 4	Long philtrum, Brachycephaly, Narrow mouth	OMIM:615663
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit...	ORPHA:289
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Pectus excavatum, Talipes equi...	ORPHA:261236
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Anteverted nares, Prominent nasal bridge, Choanal atresia, Depressed nasal ...	OMIM:123790
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Brachycephaly, Short foot, Plagiocephaly, Hip dysplasia	ORPHA:500055
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Micrognathia, Intesti...	ORPHA:99776
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Pectus excavatum, Long fibula, Abnormal metaphysis morphology	ORPHA:935
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Micrognathia, Non-midline c...	ORPHA:1300
Carey-Fineman-Ziter Syndrome	Anteverted nares, Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger...	ORPHA:1358
Jaberi-Elahi Syndrome	Depressed nasal bridge, Pectus carinatum, Talipes equinovarus, Hand clenching, Short nose	OMIM:617988
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Long nose, Pectus excavatum, Slender long bone, Short nose	OMIM:618590
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ...	OMIM:612394
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Anteverted nares, Single tr...	OMIM:303600
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Developmental Delay With Or Without Dysmorphic Facies And Autism	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Micrognathia, Bulbous nose, 2-3...	OMIM:618454
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Long toe, Short metacarpal, Hallux valgus, Anteverted nares, Single transver...	OMIM:601358
Coccidioidomycosis	Respiratory distress, Pneumonia, Cough, Pulmonary infiltrates, Abnormal long bone morphology, Ple...	ORPHA:228123
Adnp Syndrome	Thin upper lip vermilion, Broad hallux, Sandal gap, Trigonocephaly, Abnormal toe morphology, Thic...	ORPHA:404448
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Arboleda-Tham Syndrome	Respiratory distress, Long thorax, Narrow chest, Recurrent aspiration pneumonia, Genu varum, Micr...	OMIM:616268
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly	OMIM:612379
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs	ORPHA:77298
Floating-Harbor Syndrome	Narrow nasal bridge, 11 pairs of ribs, Short metacarpal, Brachydactyly, Broad nasal tip, Long nos...	ORPHA:2044
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Postaxial hand polydactyly, 11 pairs of ribs, 2-3 toe syndactyly	OMIM:264480
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Toe syndactyly, Bulbous nose, Hypoplasia of the radius, Pulmonary artery stenosis, Wide nasal bri...	ORPHA:140952
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Large for gestational age	ORPHA:293964
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Kleefstra Syndrome	Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Pyloric stenosis,...	ORPHA:261494
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Brachycephaly, Short foot, Downturned corners of...	ORPHA:264200
Desmosterolosis	Depressed nasal bridge, Micromelia, Micrognathia, Abnormality of the nose, Metatarsus adductus, A...	ORPHA:35107
X-Linked Intellectual Disability, Snyder Type	Long toe, Dental crowding, Arachnodactyly, Narrow mouth, Thick lower lip vermilion, Slender toe, ...	ORPHA:3063
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Pectus cari...	ORPHA:3107
Pterygium Colli, Isolated	Short nose	OMIM:177990
Donnai-Barrow Syndrome	Wide anterior fontanel, Short nose, Depressed nasal bridge	ORPHA:2143
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Depressed nasal bridge, Pectus excavatum, Abnormal fibula morphology, Short nose	ORPHA:1812
Warburg Micro Syndrome 2	Overlapping toe, Clinodactyly of the 4th toe, Brachycephaly, Clinodactyly of the 5th toe	OMIM:614225
Rubinstein-Taybi Syndrome 1	Respiratory distress, Single transverse palmar crease, Prominent nose, Micrognathia, Hypoplastic ...	OMIM:180849
Acrocephalopolydactylous Dysplasia	Micromelia, Postaxial hand polydactyly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Short nose	OMIM:200995
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Hypopla...	OMIM:192350
Desmosterolosis	Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Bilateral talipes equinovar...	OMIM:602398
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Eclabion, Thin upper lip vermilion, Cleft soft palate, Tapered finger, Long fingers, High, narrow...	OMIM:619950
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Choanal atresia, Bronchitis, Laryngotrach...	ORPHA:1199
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip	OMIM:614207
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Craniosynostosis, Micrognathia, Diastema, Long ...	ORPHA:96121
Trisomy 8P	Peripheral pulmonary artery stenosis, Short fourth metatarsal, Short fifth metatarsal, Depressed ...	ORPHA:264450
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Fontaine Progeroid Syndrome	Micrognathia, High, narrow palate, Brachycephaly, Anteriorly placed anus, Oligodontia, Neonatal d...	OMIM:612289
Congenital Myopathy 13	Micrognathia, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate, Bilateral ta...	OMIM:255995
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Micrognathia	ORPHA:99742
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Tapered finger, Bulbous nose, Wide nasal bridge, Short nose, Low hangi...	OMIM:615803
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Decreased palmar creases, Tapered finger, Pneumothorax, Prominent nasolabial f...	ORPHA:2953
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Cleft lip, Brachycephaly, Narrow palate, Cleft palate, Contracture of the proximal interphalangea...	OMIM:618223
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Long clavicles, Arachnodactyly, Single transverse palmar crease, Overlappin...	ORPHA:83617
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ...	OMIM:612292
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Limb undergrowth, Clinodactyly, Convex nasal ...	OMIM:616541
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Barrel-shaped chest, Respiratory distress, Recurrent respiratory infections, Pectus carinatum, St...	ORPHA:505248
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Intermittent hyperventilation, Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal ...	OMIM:300749
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Clinodactyly, 4-5 finger syndac...	OMIM:164200
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Tapered finger, Gingival overgrowth, Alveolar ridge overgrowth, Brachy...	OMIM:301072
Waardenburg Syndrome Type 1	Short nose, Sprengel anomaly, Wide nasal bridge, Underdeveloped nasal alae	ORPHA:894
Lig4 Syndrome	Clinodactyly of the 5th finger, Brachycephaly	OMIM:606593
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion	OMIM:306400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Micrognathia, Brachycephaly, Widely spaced teeth, High palate, Clinodactyly of the 5th finger, Pr...	OMIM:612474
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ...	ORPHA:364577
White-Sutton Syndrome	Thin upper lip vermilion, Brachycephaly, Downturned corners of mouth, High palate, Short philtrum...	ORPHA:468678
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femora...	OMIM:610915
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Pulmonary hypoplasia, Abnormal ilium morp...	OMIM:614080
Trigonocephaly 1	Short nose, Wide nasal bridge	OMIM:190440
Lowry-Maclean Syndrome	Choanal atresia, Single transverse palmar crease, Micrognathia, Short nose, Short nasal bridge, C...	ORPHA:2409
Chops Syndrome	Anteverted nares, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Short ...	OMIM:616368
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long...	OMIM:300912
Chromosome 1P36 Deletion Syndrome, Distal	Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Abnorma...	OMIM:607872
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Short proxim...	ORPHA:261323
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Anteverted nares, Underdeveloped nasal alae, Broad nasal tip, Wide nasal br...	ORPHA:438216
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Pulmonary hypoplasia	ORPHA:3412
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Bifid Nose With Or Without Anorectal And Renal Anomalies	Short lingual frenulum, Brachycephaly, Anteriorly placed anus, Widely-spaced maxillary central in...	OMIM:608980
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Nablus Mask-Like Facial Syndrome	Depressed nasal bridge, Single transverse palmar crease, Anteverted nares, Tapered finger, Short ...	OMIM:608156
C Syndrome	Joint dislocation, Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Accessory oral fre...	ORPHA:1308
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short nose, Micrognathia	OMIM:615851
Lathosterolosis	Abnormal thoracic spine morphology, Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose,...	ORPHA:46059
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Neu-Laxova Syndrome	Abnormality of the philtrum, Micromelia, Micrognathia, Submucous cleft hard palate, Cleft palate,...	ORPHA:2671
Cutis Laxa, Autosomal Recessive, Type Iia	Wide anterior fontanel, Short nose, Congenital hip dislocation, Anteverted nares	OMIM:219200
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Renpenning Syndrome 1	Thin upper lip vermilion, Macrodontia, Micrognathia, Narrow mouth, Brachycephaly, Cleft palate, D...	OMIM:309500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight	ORPHA:276608
Peho Syndrome	Recurrent respiratory infections, Short nose, Anteverted nares, Tapered finger	ORPHA:2836
Pentalogy Of Cantrell	Talipes, Non-midline cleft lip, Abnormal tibia morphology, Split hand, Cleft palate, Orofacial cl...	ORPHA:1335
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Down Syndrome	Sandal gap, Aganglionic megacolon, Protruding tongue, Hypoplastic iliac wing, Brachycephaly, Duod...	OMIM:190685
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Tapered finger, Wide nasal bridge, Short columella, Talipes equinovarus, Short...	OMIM:613603
Fetal Alcohol Syndrome	Short nose, Anteverted nares, Micrognathia	ORPHA:1915
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Brachycephaly, Downturned corners of mouth...	ORPHA:199
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Broad nasal tip, Emphysema, Prominent nasolabial fo...	ORPHA:357074
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Micrognathia, ...	OMIM:115150
6Q Terminal Deletion Syndrome	Hallux valgus, Aplasia/Hypoplasia of the ribs, Clinodactyly, Micrognathia	ORPHA:75857
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Intestinal malrot...	OMIM:601776
Trisomy 18	Microretrognathia, Choanal atresia, Camptodactyly of finger, Postaxial hand polydactyly, Abnormal...	ORPHA:3380
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Respiratory distress, Irregular iliac...	ORPHA:99646
Cadds	Short nose, Micrognathia	ORPHA:369942
Toriello-Carey Syndrome	Neonatal respiratory distress, Micrognathia, Wide anterior fontanel, Narrow chest, Clinodactyly, ...	ORPHA:3338
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Depressed nasal bridge, Single transverse palmar crease, Broad nasal tip, Bulbous nose, Asthma, N...	ORPHA:466943
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger...	ORPHA:69085
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Death in infancy, Congenital hip dislocation, Anteverted nares, Toe syndactyly...	ORPHA:373
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Pectus excavatum, Genu val...	ORPHA:1340
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose	ORPHA:284169
Infantile Systemic Hyalinosis	Short palm, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Gingi...	ORPHA:2176
Osteopetrosis With Renal Tubular Acidosis	Thickened calvaria, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thi...	ORPHA:2785
Ogden Syndrome	Congenital hip dislocation, Apnea, Micrognathia, Clinodactyly of the 5th finger, Aspiration, Micr...	OMIM:300855
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoxemia, P...	ORPHA:2282
Microphthalmia, Syndromic 3	Rib fusion, Missing ribs, Supernumerary ribs, Vertebral hypoplasia	OMIM:206900
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Micrognathia, Wide nasal bridge, Mesomelia, Short nose, Hip subluxation	OMIM:613457
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Anteverted nares, Proportionate shortening of all digits, Tapered finger, Smal...	ORPHA:280633
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Brachycephaly, Abnormal periodontium morphology, High palate, Tapered...	ORPHA:480880
Neu-Laxova Syndrome 1	Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long ...	OMIM:256520
Digeorge Syndrome	Micrognathia, Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent ...	OMIM:188400
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Talipes equinovarus, Short nose, Depressed nasal bridge, Broad columella	OMIM:617865
Dend Syndrome	Clinodactyly of the 4th finger, Short nose, Anteverted nares	ORPHA:79134
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Anteverted nares, Tapered finger, Absent frontal sinuses, Coxa valga, Cli...	OMIM:301040
Zttk Syndrome	Frontal bossing, Midface retrusion, Craniosynostosis, Abnormality of the dentition, Submucous cle...	OMIM:617140
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Short metacarpal, Dental crowding, Rectal prolapse, Short metatarsal, Brachyceph...	OMIM:617157
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Midface retrusion, Micrognathia, Brachyceph...	OMIM:607932
Ataxia-Oculomotor Apraxia 4	Ataxia, Obesity	OMIM:616267
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Thin upper lip vermilion, Prominent crus of helix, Deep philtrum, Thin lower lip...	OMIM:619194
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Depressed nasal bridge, Anteverted nares, Choanal atresia, Palmoplantar cut...	ORPHA:1555
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Fucosidosis	Brachycephaly, Abnormality of the dentition	ORPHA:349
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Short toe, Brachycephaly, Orofacial cleft, Thin vermilion border, Everted lowe...	ORPHA:1519
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Short philtrum, Cleft soft palate, Smooth philtrum, Adducted thumb	ORPHA:293725
Coffin-Siris Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Clinodactyly, Recurrent upper respirat...	ORPHA:1465
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight	OMIM:615954
Au-Kline Syndrome	Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal...	OMIM:616580
Frontofacionasal Dysplasia	Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Bifid uvula, Hypoplasia of th...	OMIM:229400
Dermotrichic Syndrome	Short nose, Depressed nasal bridge	ORPHA:99688
Tolchin-Le Caignec Syndrome	Arachnodactyly, Micrognathia, Submucous cleft hard palate, Scaphocephaly, Oxycephaly, Prominent o...	OMIM:618971
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Volvulus, Brachyturrice...	ORPHA:314621
Micro Syndrome	Short nose, Anteverted nares, Wide nasal bridge, Micrognathia	ORPHA:2510
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
1P36 Deletion Syndrome	11 pairs of ribs, Frontal bossing, Camptodactyly of finger, Pyloric stenosis, Abnormality of the ...	ORPHA:1606
Peters Plus Syndrome	Intestinal fistula, Thin upper lip vermilion, Toe syndactyly, Rhizomelia, Exaggerated cupid's bow...	ORPHA:709
Monosomy 9Q22.3	Palmar pits, Pectus excavatum, Abnormal rib morphology, Polydactyly, Short nose	ORPHA:77301
Trisomy 10P	Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of the hand, Micrognathi...	ORPHA:171929
Perrault Syndrome 4	Disproportionate tall stature, Obesity, Gait ataxia	OMIM:615300
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Depressed nasal bridge, Micrognathia, Short thumb, Small hand, Short ...	OMIM:268400
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Limb Body Wall Complex	Duplication of hand bones, Depressed nasal bridge, Choanal atresia, Broad hallux, Aplasia/hypopla...	ORPHA:2369
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Micrognathia, Pectus excavatum, Short nose, Broad thumb	ORPHA:109
Toriello-Lacassie-Droste Syndrome	Short nose, Anteverted nares, Brachydactyly, Short palm	ORPHA:3339
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Acrocallosal Syndrome	Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge...	OMIM:200990
Native American Myopathy	Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Talipes equinovarus, Campto...	ORPHA:168572
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Prominent na...	ORPHA:522077
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Advanced eruption of teeth, Fi...	ORPHA:818
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
Leukocyte Adhesion Deficiency Type Ii	Depressed nasal bridge, Overlapping toe, Recurrent pneumonia, Depressed nasal ridge, Broad palm, ...	ORPHA:99843
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Anteverted nares, Single transverse palma...	OMIM:615273
Branchiogenic-Deafness Syndrome	Submucous cleft hard palate, Short distal phalanx of finger	OMIM:609166
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Narrow nose, Broad hallux, Tapered finger, 1-2 toe syndactyly,...	OMIM:301044
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Respiratory failure requiring assisted ventilation, Depressed nasal bridge,...	ORPHA:1675
Wilson Disease	Failure to thrive, Increased body weight, Difficulty walking, Weight loss	ORPHA:905
Slc39A8-Cdg	Limb undergrowth, Cutaneous syndactyly of toes, Sudden episodic apnea, Elbow flexion contracture	ORPHA:468699
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Bell-shaped thora...	OMIM:230740
Oromandibular Dystonia	Respiratory distress, Abnormality of the nose	ORPHA:93958
Pallister-Hall Syndrome	Depressed nasal ridge, Abnormal lung lobation, Microretrognathia, Mesoaxial polydactyly, Radial b...	ORPHA:672
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Prominent nasal bridge, Wide nasal bridge, Recurrent pneumonia	OMIM:619179
Craniorachischisis	Bifid sternum, Anal atresia, Sirenomelia	ORPHA:63260
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Intellectual Developmental Disorder, X-Linked 21	Short nose	OMIM:300143
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Dental crowding, Internally rotated shoulders, Micrognat...	OMIM:619503
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Swelling of proximal interphalangeal joints, Pulmonary embolism, Dyspnea, A...	ORPHA:3260
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Frontal bossing, Dental crowding, High, narrow palate, Narrow mouth, Wide mouth, S...	OMIM:300967
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Pulmonary artery stenosis, Short middle phalanx of finger, Clinodactyly o...	OMIM:301030
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Anteverted nares, Sandal gap, Broad hallux, Broad nasal tip, Ta...	OMIM:615873
Craniofacial-Deafness-Hand Syndrome	Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris	OMIM:122880
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Elbow flexion contracture, Distal upper limb muscle weakne...	ORPHA:79139
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Frontal bossing, Sandal gap, Dolichocephaly, Long fingers, Scaphocephal...	OMIM:620330
Tetrasomy 12P	Short nose, Anteverted nares	ORPHA:884
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Pneumothorax, P...	ORPHA:185
Oculocerebral Hypopigmentation Syndrome, Cross Type	Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morphology, Short nose	ORPHA:2719
Double Outlet Right Ventricle	Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl...	ORPHA:3426
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Wrist flexion contracture, Talipes equinovarus	OMIM:618733
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Broad uvula, Bi...	OMIM:619472
Rodrigues Blindness	Narrow nasal bridge, Nasal flaring	OMIM:268320
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Micrognathia, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, C...	OMIM:265380
Ramos-Arroyo Syndrome	Respiratory distress, Anteverted nares, Depressed nasal bridge, Concave nasal ridge, Choanal sten...	ORPHA:1051
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Asthma, Short nose	ORPHA:280200
Holoprosencephaly 7	Bilateral cleft palate, Frontal bossing, Median cleft lip, Flat occiput, Bilateral cleft lip, Abs...	OMIM:610828
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Camptodactyly of 2nd-5...	OMIM:601803
Walker-Warburg Syndrome	Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Ctcf-Related Neurodevelopmental Disorder	Broad hallux phalanx, Anteverted nares, Single transverse palmar crease, Sandal gap, Broad nasal ...	ORPHA:363611
Stickler Syndrome	Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Arachnodactyly, Micro...	ORPHA:828
Joubert Syndrome 8	Ataxia, Obesity	OMIM:612291
Pachyonychia Congenita	Respiratory distress, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Palmar hyperkeratosis...	ORPHA:2309
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness	ORPHA:206436
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea, Abnormality o...	ORPHA:36234
Deeah Syndrome	Death in infancy, Neonatal respiratory distress, Overlapping fingers, Death in adolescence, Death...	OMIM:619004
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cleft lip, Unilate...	OMIM:619103
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Broad hallux, Underdeveloped nasal...	OMIM:618332
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Wide nasal bridge, Po...	OMIM:607330
Osteogenesis Imperfecta, Type Xvii	Bowed humerus, Thin long bone diaphyses, Thin metacarpal cortices, Hip dislocation	OMIM:616507
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency	ORPHA:367
Foxg1 Syndrome Due To 14Q12 Microdeletion	Bulbous nose, Depressed nasal bridge, Short nose	ORPHA:261144
Narcolepsy 7	Obesity	OMIM:614250
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Choanal atresia, Duplication of thumb phalanx, Mic...	ORPHA:2363
Restrictive Dermopathy 1	Natal tooth, Rocker bottom foot, Micrognathia, Wide anterior fontanel, Submucous cleft hard palat...	OMIM:275210
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Bilateral trilobed lung, Congenital hip dislocation,...	OMIM:306955
Cocaine Intoxication	Respiratory distress, Pulmonary edema, Diffuse alveolar hemorrhage, Wheezing, Tachypnea, Pneumoth...	ORPHA:90068
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Prominent ...	OMIM:614748
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema	OMIM:617300
Degcags Syndrome	Syndactyly, Chronic lung disease, Toe syndactyly, Anteverted nares, Prominent nasal bridge, Pneum...	OMIM:619488
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Noonan Syndrome With Multiple Lentigines	Spina bifida occulta, Brachycephaly	ORPHA:500
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea, Pulmonary edema	OMIM:115197
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric stenosis, Supe...	ORPHA:268261
Cardiac Diverticulum	Pulmonary artery stenosis, Pulmonary artery hypoplasia, Partial anomalous pulmonary venous return...	ORPHA:1686
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Witteveen-Kolk Syndrome	Proximal placement of thumb, Short palm, Clinodactyly of the 5th finger, Microretrognathia, Depre...	OMIM:613406
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndact...	OMIM:270400
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Death in infancy, Underdeveloped nasal alae	ORPHA:2315
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose	OMIM:613038
Coffin-Siris Syndrome 12	Frontal bossing, Midface retrusion, Micrognathia, Hip subluxation, Short thumb, Slender finger, V...	OMIM:619325
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Diamond-Blackfan Anemia	Cleft soft palate, Micrognathia, Absent thumb, Short thumb, Partial duplication of thumb phalanx,...	ORPHA:124
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Frontal bossing, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Rib fusion, Cleft palat...	ORPHA:500150
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Stridor, R...	ORPHA:79404
Khan-Khan-Katsanis Syndrome	Clinodactyly, Short nose, Postaxial polydactyly, Micrognathia	OMIM:618460
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Frontal bossing, Cloverleaf skull, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Tarsal s...	OMIM:201750
Primrose Syndrome	Hip contracture, Calcification of the auricular cartilage, Metatarsus adductus, Thick lower lip v...	OMIM:259050
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Pectus excavatum, Pectus carinatum, Shield chest, Sho...	OMIM:609942
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Micrognathia, Carious teeth, Velopharyngeal insufficiency,...	OMIM:223370
Aspartylglucosaminuria	Recurrent respiratory infections, Abnormal morphology of ulna, Wide nasal bridge, Pectus carinatu...	ORPHA:93
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, Upper airwa...	ORPHA:141127
Trichothiodystrophy 1, Photosensitive	Asthma, Short nose, Death in infancy	OMIM:601675
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Anteverted nares, Single transverse palmar crease, Broad nasal tip, Long nose, Tapered...	OMIM:619522
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Talipes equinovarus	OMIM:258040
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Increased body weight, Large for gestational age	ORPHA:263455
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Wide nose, Micrognathia, Dyspnea, Wide nasal bridge, Respiratory failure, M...	ORPHA:2556
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Pyloric stenosis, Sub...	ORPHA:2461
Q Fever	Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Cough, Pleural effusion	ORPHA:781
1P21.3 Microdeletion Syndrome	Short nose, Micrognathia, Broad nasal tip	ORPHA:293948
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Submucous cleft hard palate, Bifid uvula	OMIM:617660
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Restrictive v...	ORPHA:537
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Genu valgum, Downturned corners of mouth, Smooth philtrum	OMIM:619321
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Depressed nasal bridge, Underdeveloped nasal alae, Rhinitis, Short nose	OMIM:305100
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares	OMIM:613735
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hip dysplasia, Short nose	OMIM:619426
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar...	OMIM:154500
Neuroocular Syndrome	Hyperextensibility of the finger joints, Genu recurvatum, Tapered finger, Short uvula, Submucous ...	OMIM:619539
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion...	ORPHA:340
Common Variable Immunodeficiency	Gastrointestinal stroma tumor, Brachycephaly, Anal atresia	ORPHA:1572
Macrocephaly/Autism Syndrome	Short nose, Depressed nasal bridge	OMIM:605309
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, 2-3 toe cutane...	OMIM:300166
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Holoprosencephaly 2	Proboscis, Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral cleft lip and pa...	OMIM:157170
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Insulinoma	Increased body weight	ORPHA:97279
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Anteverted nares	OMIM:234050
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Neoplasm of the tongue, Promi...	ORPHA:3047
Sepsis In Premature Infants	Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance	ORPHA:90051
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight	OMIM:615830
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Talipes equinovarus, Cleft soft palate	OMIM:614557
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:99125
Mowat-Wilson Syndrome	Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widely spaced teeth, Bifid uvula, L...	ORPHA:2152
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea	ORPHA:2131
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Autoamputation of digits	OMIM:256810
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h...	ORPHA:261537
Sotos Syndrome	Overgrowth, Increased body weight, Tall stature	OMIM:117550
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ...	OMIM:301068
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea, Pulmonary edema	OMIM:261740
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Short nose, Micrognathia	OMIM:618820
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Clubbing, Aortopulmonary...	ORPHA:97214
Ethylene Glycol Poisoning	Pulmonary edema, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O...	OMIM:192430
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Gastric ulcer, Esophageal varix, Brachycephaly	ORPHA:2072
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose	OMIM:252160
Listeriosis	Respiratory distress, Respiratory failure, Miscarriage, Pneumonia	ORPHA:533
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Depressed nasal bridge, Convex nasal ridge, Death in childhood	OMIM:300661
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h...	ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs	OMIM:615287
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Ankle clonus, Talipes valgus, Submucous cleft hard palate	OMIM:618891
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism	ORPHA:79282
Holoprosencephaly 13, X-Linked	Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill...	OMIM:301043
Okamoto Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Hip dyspl...	ORPHA:2729
Aspartylglucosaminuria	Thick lower lip vermilion, Hypoplastic frontal sinuses, Brachycephaly, Wide mouth, Macroglossia, ...	OMIM:208400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Single transverse palmar crease, Bulbous nose, Wide nasal bridge, Depressed nas...	OMIM:619475
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Pulmonary artery stenosis, Cervical ribs	ORPHA:2255
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Osteochondrosis	ORPHA:2396
Generalized Arterial Calcification Of Infancy	Respiratory distress, Calcification of the auricular cartilage, Stippled calcification of the sho...	ORPHA:51608
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Williams Syndrome	Hallux valgus, Recurrent respiratory infections, Death in early adulthood, Down-sloping shoulders...	ORPHA:904
Williams-Beuren Syndrome	Hallux valgus, Depressed nasal bridge, Anteverted nares, Down-sloping shoulders, Broad nasal tip,...	OMIM:194050
Magel2-Related Prader-Willi-Like Syndrome	Abdominal obesity, Failure to thrive, Increased body weight	ORPHA:398069
Restrictive Dermopathy	Aplasia/Hypoplasia of the clavicles, Natal tooth, Camptodactyly of finger, Micrognathia, Submucou...	ORPHA:1662
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Abdominal obesity, Increased body weight	ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Increased body weight	ORPHA:264580
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure, Respiratory tract infection, Pulmonary lymphangiomyoma...	ORPHA:805
Aortic Arch Interruption	Respiratory distress, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Peroxisome Biogenesis Disorder 4B	Short nose, Single transverse palmar crease	OMIM:614863
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight	ORPHA:79240
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Narrow nasal ridge, Pulmonary arteriovenous malformation, Pulmonary art...	OMIM:606721
Penile Agenesis	Depressed nasal bridge, Bilateral lung agenesis, Bilateral talipes equinovarus, Pulmonary hypopla...	ORPHA:49
Gitelman Syndrome	Respiratory distress	ORPHA:358
Leptospirosis	Respiratory distress, Pleural effusion, Pulmonary hemorrhage, Cough	ORPHA:509
Plague	Respiratory distress, Abnormality of the elbow, Acute infectious pneumonia	ORPHA:707
Hellp Syndrome	Increased body weight	ORPHA:244242
Pmm2-Cdg	Respiratory distress, Anteverted nares, Prominent nasal bridge, Prominent nose, Long fingers, Asp...	ORPHA:79318
Cushing Disease	Truncal obesity, Abdominal obesity, Increased body weight	ORPHA:96253
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Chronic bronchitis, Short toe, Recurrent upper respirat...	ORPHA:64
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
Cushing Syndrome Due To Ectopic Acth Secretion	Truncal obesity, Abdominal obesity, Increased body weight, Weight loss	ORPHA:99889
Carney Complex	Abdominal obesity, Increased body weight, Tall stature	ORPHA:1359

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 Bpnt2

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 Bpnt2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Bisphosphate nucleotidase 2 (BPNT2), a molecular target of lithium, regulates chondroitin sulfation patterns in the cerebral cortex and hippocampus.	Advances in biological regulation (December 2021)	Bpnt2^{tm1a(KOMP)Wtsi}	PMC8858884

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
Bpnt2^{tm35826(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Bpnt2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Bpnt2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Bpnt2^{tm355870(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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