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Gene: Rspo2 MGI:1922667

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

R-spondin 2

Synonyms:

ftls, 2610028F08Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rspo2 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 Rspo2 (3 diseases)
Human diseases predicted to be associated with Rspo2 (2566 diseases)

The table below shows human diseases associated to Rspo2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Hypoplastic pulmonary veins,...	OMIM:618021
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal...	ORPHA:3301
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022

The table below shows human diseases predicted to be associated to Rspo2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
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
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Brachydactyly, Type A4	Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ...	OMIM:112800
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
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
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo...	ORPHA:2631
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp...	ORPHA:1040
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Fibular aplasia	OMIM:218550
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ...	ORPHA:3320
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur...	OMIM:616531
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Renal hypoplasia/aplasia, Abnorma...	ORPHA:971
Rubinstein-Taybi Syndrome 2	Micrognathia, High palate, Prominent fingertip pads, Posterior helix pit, Syndactyly, Broad hallu...	OMIM:613684
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Death in infancy, Lumbar hyperlordosis, Flat acetabu...	OMIM:256050
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Thick eyebrow, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synop...	ORPHA:1278
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Clef...	ORPHA:2756
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Protruding ear, Cone-s...	OMIM:190350
Zechi-Ceide Syndrome	Mandibular prognathia, Sandal gap, Thick hair, Cleft lip, Short metatarsal, Abnormal earlobe morp...	ORPHA:217017
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Microphthalmia With Limb Anomalies	Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp...	OMIM:206920
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Trichorhinophalangeal Syndrome, Type Iii	Short palm, Thin upper lip vermilion, Short metacarpal, Osteopenia, Dental crowding, Avascular ne...	OMIM:190351
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of toe, Natal tooth, Brachydactyly, Mandibular prognathia, Single transverse...	OMIM:601957
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Broad metatarsal, Hypoplasia of the ...	ORPHA:1540
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c...	OMIM:617468
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Zechi-Ceide Syndrome	Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Malar flattening, Steno...	OMIM:612916
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arch...	OMIM:605282
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Absent forearm, Overlapping toe, Single transverse palmar crease, Posteriorly r...	OMIM:201170
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Gen...	OMIM:184260
Tibial Hemimelia	Absent tibia	OMIM:275220
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Radial-Renal Syndrome	Absent radius, Ectopic kidney, Unilateral renal agenesis, Absent thumb	OMIM:179280
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Posteriorly rotated ears, Bilateral cleft lip, Hypospa...	OMIM:164745
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Abnormality of the dentition, Avascu...	ORPHA:77258
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un...	OMIM:616300
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Enamel h...	OMIM:612463
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Ureteral duplication, Renal agenesis, Absent thumb, Absent radius, Ectopic k...	OMIM:602200
Anonychia-Microcephaly Syndrome	Carious teeth, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnorm...	ORPHA:1094
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Catel-Manzke Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Highly arched eyebrow, Metatarsus val...	ORPHA:1388
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Nephrolith...	ORPHA:1837
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater...	OMIM:614900
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate...	OMIM:268305
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola...	ORPHA:2972
Pyle Disease	Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t...	OMIM:265900
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Median cleft lip, Toe syndactyly, Micromelia, Microgna...	OMIM:241800
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Single transverse palmar crease, Abnormal finger flexi...	OMIM:210600
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand...	OMIM:246560
Acrodysostosis	Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r...	ORPHA:950
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Renal agenesis, Unilateral cryptorchidism	OMIM:219050
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Osteopo...	OMIM:156510
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,...	ORPHA:439822
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnorma...	ORPHA:294975
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry...	OMIM:617194
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Cleft palate, Hypopla...	OMIM:601076
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Hearing impairment, Limited elbow extension, Short...	ORPHA:1856
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A...	ORPHA:401942
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Asp...	ORPHA:141152
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia...	ORPHA:915
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Bowen-Conradi Syndrome	Death in infancy, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Joint stiffness, Abn...	ORPHA:1270
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl...	OMIM:108720
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Aplasia of the...	ORPHA:2879
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi...	OMIM:612350
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia	OMIM:300484
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Short neck, Preaxial polydactyly, Narrow greater sciatic notch, Neonatal death, Sho...	OMIM:617925
Cohen Syndrome	Pes planus, Short metacarpal, Thick eyebrow, Single transverse palmar crease, Tapered finger, Cub...	OMIM:216550
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Renal agenesis, Camptodactyly of finger, Broad thumb, Short distal phalanx ...	ORPHA:1471
Arthrogryposis, Distal, Type 1C	Short neck, Knee flexion contracture, Limited neck range of motion, High palate, Clinodactyly of ...	OMIM:619110
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Cri-Du-Chat Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, Orofacial cleft, Downturned corner...	OMIM:123450
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl...	OMIM:113300
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu...	OMIM:602418
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Abnormality of the dentition, Micrognathia, Synophrys, High palate, S...	ORPHA:217340
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde...	OMIM:274000
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cleft upper lip, Cryptorchidism, Primar...	OMIM:244200
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt...	OMIM:166250
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinoda...	OMIM:260660
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Hypoplasia of the ulna, Sho...	OMIM:271700
Smith-Mccort Dysplasia 2	Mandibular prognathia, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femor...	OMIM:615222
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cle...	OMIM:251230
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o...	ORPHA:2669
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Unilateral renal agenesis, Ureteral atresia, Short long bone, Bilateral renal a...	OMIM:618845
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis...	OMIM:256200
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Micrognathia, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respirat...	ORPHA:1832
Microphthalmia, Syndromic 12	Intestinal malrotation, Micrognathia, Cleft palate, Pulmonary hypoplasia, Neonatal death, Retrogn...	OMIM:615524
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Redundant neck skin, Hydranencephaly, Single transverse palmar crease, Short n...	OMIM:236500
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Cleft pal...	ORPHA:85166
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Short metatarsal, Osteoporosi...	OMIM:103580
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu...	OMIM:136760
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Oligo...	ORPHA:2795
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Ect...	ORPHA:1643
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis...	OMIM:249600
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal...	OMIM:108721
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Hypospadias, Short metatarsal, Advanced ossification of ...	OMIM:614613
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of finger, Broad metac...	ORPHA:56304
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai...	ORPHA:1307
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Protruding ear, Patchy alopec...	ORPHA:85279
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Micrognathia, Respiratory insufficiency due ...	OMIM:611890
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Long philtrum, ...	OMIM:618761
Czeizel-Losonci Syndrome	Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit...	ORPHA:2437
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Aase-Smith Syndrome	Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,...	ORPHA:916
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Gillessen-Kaesbach-Nishimura Syndrome	Thickened nuchal skin fold, Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, ...	OMIM:263210
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Short distal phalanx of finger, Abnormality of the dentition	ORPHA:2776
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ...	OMIM:314390
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Short neck, Multiple prenatal fractures, Flexion contracture, Large fle...	OMIM:616897
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Long toe, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla...	ORPHA:1248
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Moebius Syndrome	Micrognathia, Short neck, High palate, Lower limb undergrowth, Micropenis, Short phalanx of finge...	OMIM:157900
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Otoonychoperoneal Syndrome	Knee flexion contracture, Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the f...	OMIM:259780
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Unilateral renal agenesis, Micrognathia,...	ORPHA:245
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hamartoma of tongue...	OMIM:258860
Arthrogryposis, Distal, Type 7	Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Cutaneous syndactyly ...	OMIM:158300
Perching Syndrome	Respiratory distress, Cyanosis, High palate, Scoliosis, Camptodactyly	OMIM:617055
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:3201
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition...	OMIM:216300
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Cleft palate, Unilateral renal agenesis, Short distal phalanx of finger	OMIM:601355
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Invasive Mole	Menometrorrhagia	ORPHA:99925
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Mandibular prognathia, Short metacarpal, Brachydactyly, Hearing impair...	OMIM:101800
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim...	OMIM:607323
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin...	ORPHA:199306
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/...	ORPHA:2662
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Tonne-Kalscheuer Syndrome	Pes planus, Hypospadias, Micrognathia, Velopharyngeal insufficiency, Fine hair, Downturned corner...	OMIM:300978
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Short neck, Syn...	OMIM:619297
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Cleft palate, Split foot, Malar...	OMIM:183700
Intellectual Disability, Wolff Type	Microretrognathia, Camptodactyly of finger, Non-midline cleft lip, Thick lower lip vermilion, Oro...	ORPHA:3080
Monosomy 5P	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Recurrent fractures, Sho...	ORPHA:281
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Abnormality of the philt...	ORPHA:2935
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Protruding ear, Tubulointerstitial nephriti...	OMIM:218330
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly	OMIM:236110
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Unilateral renal agenesis, E...	OMIM:613680
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Encephalocele, Sho...	ORPHA:1865
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormality of the den...	ORPHA:178303
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Abse...	ORPHA:79113
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Short neck, Protruding ear, High palate, Microdo...	OMIM:259775
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft...	OMIM:620107
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormali...	ORPHA:96148
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Low urin...	OMIM:612462
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Lowe...	ORPHA:2063
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hydroureter, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micr...	OMIM:616367
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti...	ORPHA:2222
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Bowing o...	OMIM:613849
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Attached earlobe, Synophrys, Downturned corners of mouth, High palate, Low...	ORPHA:1327
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, A...	ORPHA:2257
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Glossoptosis, Abnor...	ORPHA:166100
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Micromelia, Limited elbow extension, Short metatarsal, Small h...	OMIM:180870
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia...	OMIM:613390
Lujan-Fryns Syndrome	Arachnodactyly, Dental crowding, Camptodactyly of finger, Abnormality of the dentition, Micrognat...	ORPHA:776
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic...	OMIM:614669
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, High palate, Tapered finger, Respiratory tract...	OMIM:618975
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Osteopenia, Short metatarsal, Sparse hair, Short metacarpal, Rhizomelia, C...	OMIM:614813
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Sensorineural hearing...	OMIM:194350
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Short neck, Sensorineural hearing impairment, Gingival overgrowth, Patel...	ORPHA:464288
Acromesomelic Dysplasia 4	Mandibular prognathia, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutis...	OMIM:619636
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Micrognathia, Cleft upper lip, Flexion contracture, Cleft palate, Increased sus...	OMIM:312150
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Mixed hearing impairment, Large tarsal bones, Micrognathia, Sensorineural h...	OMIM:215150
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Sparse hai...	OMIM:614091
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Mosaic Trisomy 1	Single transverse palmar crease, Orofacial cleft, Renal cyst, Finger clinodactyly, Pulmonary arte...	ORPHA:1692
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ...	OMIM:616331
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi...	OMIM:600383
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Cleft palate, Evert...	OMIM:619736
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3...	ORPHA:2712
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Absent distal phalanges,...	OMIM:120400
Acrorenal-Mandibular Syndrome	Micrognathia, High palate, Hypoplasia of the ulna, Split hand, Split foot, Low-set ears, Toe synd...	OMIM:200980
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Triphalangeal thumb, Abnormality of the malleus, Conductive hearing...	ORPHA:949
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ant...	ORPHA:952
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te...	ORPHA:83450
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Microg...	OMIM:166300
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening	OMIM:300261
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ...	ORPHA:1190
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Co...	ORPHA:166272
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Abnormality of the middle ear ossic...	ORPHA:2549
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Joint ...	ORPHA:90653
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M...	ORPHA:3035
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis...	ORPHA:2249
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Preaxial hand polydactyly, Synophrys, Orofacial cleft, Low posterior hairline, L...	ORPHA:85287
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Low-set ears, Arthrogryposis...	OMIM:616570
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Death in infancy, Highly arched eyebrow, Microg...	OMIM:619135
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary te...	OMIM:620099
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Cox...	OMIM:618150
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv...	ORPHA:2025
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost...	OMIM:612961
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A...	OMIM:619148
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Micrognathia, Unilateral ren...	OMIM:618142
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea	OMIM:184700
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Crowded maxillary inc...	ORPHA:397973
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp...	OMIM:620269
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Craniosynostosis, Split ...	ORPHA:2145
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Tented upper lip vermilion, Overlapping to...	OMIM:616723
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien...	OMIM:245650
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior hairline, High palate,...	OMIM:212720
Neuralgic Amyotrophy	Scapular winging, Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis	ORPHA:2901
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ...	ORPHA:93351
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro...	ORPHA:2026
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, Low anterior hairline,...	ORPHA:420561
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Hear...	ORPHA:85201
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Sparse scalp hair, Brachydactyly, Thick eyebrow, Sandal gap, Abnormal ...	OMIM:614607
Acromicric Dysplasia	Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ...	OMIM:102370
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of the philtrum, Abnormality of hair texture, Sparse ...	OMIM:225060
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln...	ORPHA:2741
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Posteriorly rotated ears, Wide mouth, Delayed erupti...	OMIM:618506
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Posteriorly rotated ears,...	OMIM:600325
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Microtia, Patchy alopec...	OMIM:141300
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Micrognathia, Short neck, Whistling appearance, Narrow mouth, Trism...	OMIM:277720
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck...	ORPHA:264450
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Hypoplasia of the maxilla, Microtia, Narrow mouth, Thickened helices, Malar...	ORPHA:261295
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Micrognathia, Flexion contracture, Cleft palate, Increased susceptibility to fr...	OMIM:253290
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural h...	ORPHA:1529
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Burn-Mckeown Syndrome	Unilateral renal agenesis, Micrognathia, Cleft upper lip, Renal hypoplasia, 2-3 toe syndactyly, C...	OMIM:608572
Charlie M Syndrome	Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,...	ORPHA:1406
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti...	OMIM:614399
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex co...	OMIM:217150
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb	OMIM:179270
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of fi...	ORPHA:994
Marden-Walker Syndrome	Arachnodactyly, Hypospadias, Micrognathia, Short neck, High, narrow palate, Pyloric stenosis, Ren...	OMIM:248700
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Cone-shaped epiphysis,...	ORPHA:71267
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Hy...	OMIM:154400
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate	OMIM:600252
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee fl...	OMIM:601559
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Ectodermal dysplasia, Sparse hair, Dystroph...	ORPHA:3253
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Mandibular prognathia, Genu recurvatum, Camptodactyly of finger, Joint...	ORPHA:137834
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Micrognathia, Short neck, Short metatarsal, Renal cyst, Widely ...	OMIM:266920
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of the primary ...	OMIM:257850
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Rhizomelia, Talipes, Unilateral renal agenesis, Chronic kidney disease, Renal h...	OMIM:617661
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero...	OMIM:608022
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Orofacial cleft, Split foot, Triphalangeal thumb	ORPHA:3434
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Cond...	ORPHA:2980
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, Sensorineural he...	OMIM:608154
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over...	ORPHA:2027
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Talipes, Limitation of joint mobility, Cleft palate, ...	ORPHA:376
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Recurrent fractures, Micrognathia, Short neck, Abnormality of ...	ORPHA:1486
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio...	OMIM:215140
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis	OMIM:268650
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Sparse hair,...	OMIM:129400
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi...	ORPHA:763
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Arachnodactyly, Camptoda...	ORPHA:2994
Agnathia-Otocephaly Complex	Tracheomalacia, Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Pulmonary hy...	OMIM:202650
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina...	OMIM:158330
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Lethal Congenital Contracture Syndrome 10	Torticollis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bowing, Macroglossia, S...	OMIM:617022
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
48,Xxyy Syndrome	Delayed eruption of teeth, Pes planus, Broad jaw, Recurrent respiratory infections, Hypoplasia of...	ORPHA:10
Auriculoosteodysplasia	Elbow dislocation, Aplasia/Hypoplasia of the radius, Hip dysplasia, Abnormal metacarpal morpholog...	ORPHA:114
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit...	OMIM:271650
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Hearing impairment, Sensorineural hearing impairment,...	OMIM:616354
Orofaciodigital Syndrome Type 5	Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac...	ORPHA:2919
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy...	OMIM:276820
Coffin-Siris Syndrome 3	Joint laxity, Sparse scalp hair, Thick eyebrow, Short distal phalanx of the 5th finger, Cleft pal...	OMIM:614608
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ...	OMIM:305400
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,...	ORPHA:181
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Micromelia, Microgna...	OMIM:224410
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr...	OMIM:618363
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Char Syndrome	Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per...	ORPHA:46627
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue...	OMIM:269860
Cerebrooculofacioskeletal Syndrome 1	Micrognathia, Flexion contracture, Abnormality of the ear, Knee flexion contracture, Death in chi...	OMIM:214150
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Renal agenes...	OMIM:212780
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee...	OMIM:305620
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Abnormality of t...	ORPHA:1387
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Dental crowding, Urinary incontinence, Abnormality of the hand, Tapered finger, Unila...	ORPHA:476126
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Thick eyebrow, Abnormal pinna morphology, Perianal abscess, Widow's pea...	OMIM:614684
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Mandibular prognathia, Alopecia, Sparse scalp hair, Abnormal dental en...	ORPHA:2325
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Orofaciodigital Syndrome Type 2	Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh...	ORPHA:2751
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, T...	OMIM:619797
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polyda...	OMIM:614815
Autosomal Recessive Amelia	Hypoplasia of penis, Micrognathia, Non-midline cleft lip, Orofacial cleft, Aplasia/Hypoplasia of ...	ORPHA:1027
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnorma...	ORPHA:3098
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Weaver Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodact...	ORPHA:3447
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Abnormality o...	ORPHA:576283
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Cleft soft palate, Sandal gap, Abnormality of the dentition, Micrognathia, Posterio...	OMIM:618529
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf...	ORPHA:99772
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short thumb, Hyp...	ORPHA:2319
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ...	ORPHA:3258
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Cleft Palate-Large Ears-Small Head Syndrome	Hypospadias, Micrognathia, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Protrudi...	ORPHA:2013
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Synophrys, Abnormal...	ORPHA:3268
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of the h...	ORPHA:94066
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ...	OMIM:145420
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Mixed hearing impairment, Flared metaphysis, Delaye...	OMIM:218400
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi...	OMIM:166750
Familial Scaphocephaly Syndrome, Mcgillivray Type	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Open bite, High palate	ORPHA:168624
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul...	OMIM:253300
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Short neck, Micrognathia, Cleft palate	ORPHA:2015
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d...	OMIM:277590
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Respiratory tract infection, Flexion con...	OMIM:218000
Hyperekplexia 4	Kyphoscoliosis, Respiratory failure, High palate, Talipes equinovarus, Camptodactyly, Adducted thumb	OMIM:618011
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Kyphosis, Elbow flexion contracture, Hip dislocation, Knee flexion contra...	ORPHA:75840
Hepatic Adenomas, Familial	Polycystic ovaries	OMIM:142330
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
Kuskokwim Syndrome	Aplasia/Hypoplasia of the radius, Talipes, Aplasia/Hypoplasia of the patella	ORPHA:1149
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi...	ORPHA:50945
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Recurrent respira...	ORPHA:2484
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Short toe, Abnormality of the elbow...	ORPHA:633
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Alg3-Cdg	Osteopenia, Abnormal pinna morphology, Metaphyseal chondrodysplasia, Abnormal limb bone morpholog...	ORPHA:79321
Parc Syndrome	Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate	OMIM:600331
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Micrognathia, Aplasia/Hypoplasia ...	ORPHA:2256
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Nephrol...	ORPHA:1816
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ...	ORPHA:363444
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Overlapping toe, Short hallux, ...	ORPHA:3309
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Larsen Syndrome	Short metatarsal, Knee dislocation, Conductive hearing impairment, Spina bifida occulta, Hypoplas...	OMIM:150250
Trisomy 4P	Smooth philtrum, Low-set, posteriorly rotated ears, Thick eyebrow, Hypospadias, Camptodactyly of ...	ORPHA:1738
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hearing impairment, Micrognathia, Recurrent patellar dislocation, Capitate-hama...	OMIM:614078
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Micrognathia, Synophrys, High palate, Clinodactyly of the 5th finger, Short...	OMIM:605130
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Ank...	OMIM:602483
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Ectopic kidney, Short neck, Thin lower lip vermilion, Sh...	OMIM:613328
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo...	ORPHA:281090
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, G...	ORPHA:3019
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn...	OMIM:258315
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, Narrow foot, Finger clinodactyly, ...	ORPHA:2896
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Cryptorchidism, Non-midline cleft lip, Cleft palate	ORPHA:1074
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari...	OMIM:228300
Zimmermann-Laband Syndrome 3	Thick hair, Aplasia of the distal phalanx of the 5th toe, Long hallux, Thick lower lip vermilion,...	OMIM:618658
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Short palm, Mandibular prognathia, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnor...	ORPHA:2511
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Highly arched eyebrow, Short toe, Sensorineural hearin...	OMIM:600430
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Protruding ear, High palate, Widely spaced teeth, Advanced eruption of...	ORPHA:192
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly ...	ORPHA:2886
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Selective tooth agenesis, Sparse eyelashes, Cleft upper lip, Conical tooth, Hypoplas...	OMIM:106260
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Renal hypoplasia/aplasia, Long penis, Abnorm...	ORPHA:1988
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,...	OMIM:183600
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den...	ORPHA:1133
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Synophrys, 2-3 toe syndactyly, High palate, Talipes equinovarus, Short...	ORPHA:3306
Muenke Syndrome	Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Denta...	OMIM:602849
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Tapered finger, Wide mouth, Hi...	OMIM:618825
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Low anterior hairline, Hi...	OMIM:608156
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Triphalangeal thumb, Conductive hearing impairm...	ORPHA:794
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Hypoplasia of the maxilla, High palate, Long foot	OMIM:300676
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Mic...	OMIM:619356
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Alopecia, Brittle hair, Dental crowding, Micrognathia, Flexion contract...	OMIM:608612
Meier-Gorlin Syndrome 5	Small earlobe, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epip...	OMIM:613805
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Elbow...	OMIM:618414
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Synophrys, Short philtrum, Pulmonary artery atresia, Long philtrum, Long toe, Exaggerated cupid's...	OMIM:618316
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Hypoplasia of the maxilla, Urinary urgency, Urinary bladder sphincter dysfu...	OMIM:300266
Cardiospondylocarpofacial Syndrome	Brachydactyly, High, narrow palate, Short palm, Conductive hearing impairment, Failure of eruptio...	ORPHA:3238
Kagami-Ogata Syndrome	Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla, Flexion contracture, Microtia,...	OMIM:608149
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca...	OMIM:132400
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Hig...	ORPHA:261120
Eem Syndrome	Finger syndactyly, Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth...	ORPHA:1897
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Diastema, Conical tooth, Hypoplasia of the maxill...	OMIM:619142
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Abnor...	OMIM:616362
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow p...	OMIM:617926
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Malar flattening, Bra...	ORPHA:1919
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Death in infancy, Carious teeth, Pyloric stenosis, Nail dystrophy, Enamel hypoplasia	OMIM:226700
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Elbow dislocation, Conductive hearing impairment, Fine hair, A...	ORPHA:3236
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Moderate albuminuria, Short toe, Sensorineural hearing impairment, Retrognathia, Cone...	OMIM:619269
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Metatarsus adductus, Hypoplasia of the maxilla, Clinodac...	ORPHA:293939
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneum...	ORPHA:444077
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Micrognathia...	ORPHA:2780
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping toe, Unilateral renal agenesis, High, narrow palate, Renal ...	OMIM:618494
Microcephaly-Capillary Malformation Syndrome	Hearing impairment, Hypoplasia of the maxilla, Abnormal hair whorl, Cleft palate, Low-set ears, V...	OMIM:614261
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Proximal renal tubular acidosis,...	OMIM:181180
Achondrogenesis Type 1A	Thickened nuchal skin fold, Recurrent fractures, Micromelia, Micrognathia, Short neck, Abnormal e...	ORPHA:93299
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Micrognathia, Cleft pala...	ORPHA:251019
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Thickened helices, Joint stiffness, Hypoplasia of the maxilla...	OMIM:608328
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Brittle hair, Carious teeth, Hypoplasia of the maxilla, Hi...	ORPHA:50814
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Sensorineural hearing impairment, Cupped ear, Fle...	ORPHA:314588
Fryns Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, High palate, Vesicoureteral reflux, Clinoda...	ORPHA:2059
Fanconi Anemia, Complementation Group B	Death in infancy, Renal agenesis, Absent thumb, Esophageal atresia, Tracheoesophageal fistula, Bi...	OMIM:300514
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Micrognathia	OMIM:601809
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Thin upper lip vermilion, Unilateral renal agenesis	ORPHA:2512
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit...	OMIM:265120
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Neonatal death, Mitten...	OMIM:609638
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Hearing abnorm...	ORPHA:2412
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Webbed neck, Anteriorly placed anus, Downturned corners of mouth, Pulmo...	OMIM:616894
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Single transverse palmar crease, Highly arched eyebrow, Conductive hearing impairme...	OMIM:617412
Cat Eye Syndrome	Anal stenosis, Renal agenesis, Intestinal malrotation, Micrognathia, Absent radius, Rectal fistul...	OMIM:115470
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metata...	OMIM:305600
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal metacarpal morphology, Conductive hearing impairment, Malar f...	ORPHA:93262
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr...	ORPHA:193
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Micrognathia, Orofacial cleft, Symphalangism affecting the phalanges of the ...	ORPHA:2990
Frontorhiny	Low-set, posteriorly rotated ears, Encephalocele, Camptodactyly of finger, Hypoplasia of the maxi...	ORPHA:391474
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing...	OMIM:619951
Distal Deletion 10P	Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Cleft palate, Polycystic ovaries, Ect...	ORPHA:1580
Hall-Riggs Syndrome	Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Join...	ORPHA:2107
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Flexion contracture, Hip disloc...	OMIM:203550
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,...	OMIM:601680
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph...	ORPHA:2872
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hand muscle atrophy, Lumbar hyperlordosis, Ankle clonus, Respiratory failure, Tongue fasciculatio...	OMIM:600561
Craniosynostosis-Mental Retardation-Clefting Syndrome	Orofacial cleft, Forearm undergrowth, Renal dysplasia, Lower limb undergrowth	OMIM:218650
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Highly arched eyebrow, Persistence of primary teeth, Micrognathia, Sensorineural...	OMIM:618342
Achondrogenesis Type 1B	Thickened nuchal skin fold, Micromelia, Micrognathia, Short neck, Abnormal enchondral ossificatio...	ORPHA:93298
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and ...	ORPHA:1997
Tetraploidy	Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the lungs, Short philtrum, Hy...	ORPHA:3305
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, A...	ORPHA:263463
Neu-Laxova Syndrome	Osteopenia, Micromelia, Micrognathia, Flexion contracture, Bifid uvula, Osteomalacia, Spina bifid...	ORPHA:2671
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture...	OMIM:224690
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Equinovarus deformity,...	ORPHA:566943
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Rapadilino Syndrome	Sparse scalp hair, Sparse eyelashes, Aplasia/Hypoplasia of the patella, Sparse eyebrow, Absent th...	OMIM:266280
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Unilateral renal agenesis, Cleft lip, Pierre-Robin sequence, Cleft pala...	OMIM:619504
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Lumbar hypertrichosis, Neonatal respiratory distress, Death in infancy, Te...	OMIM:618622
Satoyoshi Syndrome	Pes planus, Short metacarpal, Alopecia, Malabsorption, Short metatarsal, Osteolytic defects of th...	OMIM:600705
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Low anterior hairline, Downturn...	OMIM:300882
Intellectual Developmental Disorder, Autosomal Recessive 71	Increased overbite, Cryptorchidism, Micropenis, Unilateral renal agenesis	OMIM:618504
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Mic...	ORPHA:1703
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Low anterior hair...	OMIM:617137
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Tapered finger, Short finger, Death in childhood, Acrocyanosis	OMIM:302000
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi...	ORPHA:79444
Plin1-Related Familial Partial Lipodystrophy	Polycystic ovaries, Infertility, Oligomenorrhea	ORPHA:280356
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Decreased...	OMIM:614592
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Micrognathia, Conductive hearing impairment, Short foot, Microtia, High palate, Joint contracture...	OMIM:248910
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Trisomy 8Q	Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Sh...	ORPHA:1752
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Hearing abnormality, P...	ORPHA:3270
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr...	OMIM:277440
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Sensorineural heari...	ORPHA:3152
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Arachnodactyly, Broad hallux, Joint hypermobility, Hypoplasia of the maxilla, Flex...	ORPHA:481152
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Renal agenesis, Metrorrhagia, Dysmenorrhea, Abnormal uterine...	ORPHA:3411
Achondrogenesis	Thickened nuchal skin fold, Micromelia, Micrognathia, Short neck, Abnormal enchondral ossificatio...	ORPHA:932
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Intestinal malrotation, Pulmonary hypoplasia, Low-set ears, Clinodact...	OMIM:601163
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Micrognathia, Long upper lip, Narrow ...	ORPHA:3404
Lowry-Maclean Syndrome	Osteopenia, Hypospadias, Single transverse palmar crease, Delayed eruption of primary teeth, Micr...	ORPHA:2409
Kallmann Syndrome With Spastic Paraplegia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, High palate, Micropenis...	OMIM:308750
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Kn...	OMIM:615777
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl...	OMIM:615065
Chromosome 22Q11.2 Duplication Syndrome	Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, Low-set ears	OMIM:608363
Pycnodysostosis	Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ...	OMIM:265800
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Ureteral s...	OMIM:309350
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Ectopic kidney, Absent radius, Short thumb, Absent ...	OMIM:227650
Branchiootic Syndrome	Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in...	ORPHA:52429
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Hearing impa...	OMIM:613604
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent radius, Absent thumb, Esophag...	OMIM:614083
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Stickler Syndrome, Type Ii	Arachnodactyly, Micrognathia, High, narrow palate, Long fingers, Pierre-Robin sequence, Sensorine...	OMIM:604841
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Low anterior h...	ORPHA:2095
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse ha...	OMIM:619692
Dental Ankylosis	Clinodactyly of the 5th finger, Tooth agenesis, Mandibular prognathia, Abnormal dental enamel mor...	ORPHA:1077
Diastrophic Dysplasia	Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t...	ORPHA:628
Neuropathy, Congenital Hypomyelinating, 3	Micrognathia, 2-3 toe syndactyly, Narrow palate, Respiratory insufficiency, Gingival overgrowth, ...	OMIM:618186
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Short neck, Clinodactyly of the 5th finger, Chronic o...	ORPHA:96263
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Thick lower lip ...	OMIM:300602
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Micrognathia, Protruding ear, Coarse hair, Widely spaced teeth, Conductive hearing...	ORPHA:1071
Sprengel Deformity	Torticollis, Shoulder muscle hypoplasia, Short neck, Cleft palate, Abnormal shoulder morphology, ...	ORPHA:3181
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Sho...	OMIM:225410
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Ectopic kidney, Absent radius, Short thumb, Absent ...	OMIM:600901
Osteoglosphonic Dysplasia	Rhizomelia, Craniosynostosis, Micrognathia, Protruding ear, Tooth agenesis, Multiple unerupted te...	ORPHA:2645
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Single transverse palmar crease, Micrognathia, High, narrow palate, Aminoaci...	OMIM:214100
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Pitt-Hopkins Syndrome	Short fourth metatarsal, Single transverse palmar crease, Short neck, Deep philtrum, Narrow foot,...	OMIM:610954
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Mosaic Trisomy 16	Syndactyly, Abnormal ear morphology, Hypospadias, Single transverse palmar crease, Short thumb, C...	ORPHA:1708
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Sensorineural hearing impairment, Pierre-Robin sequence...	OMIM:184840
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Nicolaides-Baraitser Syndrome	Dry hair, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short met...	OMIM:601358
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Micrognathia, Abnormality of the ureter, Aplasia/Hy...	ORPHA:1046
Congenital Myopathy 22B, Severe Fetal	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Synophrys, Flexion contrac...	OMIM:620369
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Micrognathia, Large fleshy ears, High palate, Vesicoureteral reflux, Deep p...	OMIM:614080
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, High palate, Cleft palate, Micrognathia	OMIM:615731
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Cutis marmorata, Short foot, Hypertension, Wide mouth, Median p...	OMIM:619758
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Conductive hearing impairment, Short...	OMIM:132450
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Supernumerary nipple, Cleft upp...	OMIM:612530
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma...	ORPHA:87
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Sensorineural hearing impairment, Cl...	ORPHA:921
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Protruding ear, Sm...	OMIM:618737
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Adams-Oliver Syndrome 4	Aplasia of the middle phalanx of the 4th toe, Short toe, Absent middle phalanx of the 3rd toe, Ap...	OMIM:615297
Bartsocas-Papas Syndrome 1	Micrognathia, Ectopic kidney, Hypoplastic iliac wing, Micropenis, Short phalanx of finger, Syndac...	OMIM:263650
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ...	OMIM:141400
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Thin upper lip vermilion, Finger syndactyly, Mandibular prognathia, Dental crowdi...	ORPHA:435938
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Thick eyebrow, Limited elbow movement, Proximal placement of thumb, Mic...	OMIM:300590
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Aplasia/Hypopl...	ORPHA:2759
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Thoracic kyphoscoliosis, Cyanosis, Weakness of the intrinsic h...	ORPHA:98913
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Cleft soft palate, ...	OMIM:606851
Otodental Syndrome	Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename...	ORPHA:2791
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Humeroradial synostosi...	OMIM:134780
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Posteriorly rotated ears, Sparse eyelashes, Micrognathia, Short neck, High, na...	ORPHA:1787
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Prote...	OMIM:235510
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr...	OMIM:156530
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla...	OMIM:600057
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Ulnar deviation of the hand, Femur fracture, Single transverse palmar crease, Cong...	OMIM:618291
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Death in infancy, Proteinuria, Chronic kidney diseas...	OMIM:208500
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi...	ORPHA:79443
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Highly arched eyebrow, Hy...	ORPHA:228396
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Patellar apl...	OMIM:613804
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Hypospadias, Micrognathia, Metatarsus adductus, High, narrow pal...	ORPHA:436003
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence...	ORPHA:37553
W Syndrome	Hypoplasia of the ulna, Pes planus, Broad uvula, Radial bowing, Elbow dislocation, Metatarsus add...	ORPHA:2804
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Hypoplasia of penis, Micrognathia, Short neck, Conductive hearing impairme...	ORPHA:3082
Distal Deletion 19P	Long toe, Low-set, posteriorly rotated ears, Alopecia, Arachnodactyly, Hypoplasia of the maxilla,...	ORPHA:96129
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Patchy hypopigmentation of hair, Micrognathia, Absent radius, Pr...	ORPHA:233
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Talipes, Postax...	OMIM:619879
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Fle...	ORPHA:88630
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Short neck, Dental malocclusion, Protruding ear, Sle...	OMIM:612921
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Micrognathia, Short neck, High, narrow palate, Joint ...	ORPHA:2516
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Syndactyly, Palmoplantar keratoderma, Sparse hair, Enamel hypoplasia, M...	OMIM:613576
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Abnormal pinna morphology, ...	OMIM:610253
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Short neck, Clinodactyly of the 5th finger, Chronic o...	ORPHA:96264
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas...	OMIM:611548
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Alopecia, Rhizomelia, Micrognathia, Senso...	OMIM:215100
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand...	OMIM:200600
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ne...	ORPHA:2557
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Frontal balding, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Ma...	ORPHA:93945
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary ar...	OMIM:619003
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move...	OMIM:261540
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Dental crowding, Micrognathia, Cleft hard palate, Short neck, Synophrys, Nephrocalcinosis, Conduc...	OMIM:300990
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux,...	OMIM:600987
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa...	OMIM:208150
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Renal hypoplasia/aplasia, Non-midline cleft lip, Abnormality of the ...	ORPHA:1770
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, Alopecia, Joint hypermobility, Trichorrhexis nod...	OMIM:261990
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo...	ORPHA:536467
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Schilbach-Rott Syndrome	Posteriorly rotated ears, Hypospadias, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous clef...	OMIM:164220
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Cleft palate, Ulnar deviati...	OMIM:222600
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micromelia, Abnormal enchondral ossif...	ORPHA:2635
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Laterally extended eyebrow, Rocker bottom foot, Highly arched eyebrow, S...	OMIM:618804
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Diastema, Crypt...	OMIM:609757
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Synophrys, Coxa vara, Clinodactyly of the 5th finger, Syndactyly...	OMIM:614701
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Thin upper lip vermilion, Hyperextensibility of the finger joints, Dental crowding,...	OMIM:309520
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Hypertrichosis, Oligodontia, Widely spaced teet...	OMIM:601216
Chand Syndrome	Curly hair, Short fifth metatarsal, Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent...	ORPHA:1401
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Preaxial hand polydact...	OMIM:227646
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoosper...	OMIM:308700
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi...	OMIM:244600
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary...	OMIM:614096
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Webbed neck, Downturned corners of mouth, Conductive hearing imp...	ORPHA:2215
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, 4-5 finger syndactyly, ...	ORPHA:158687
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia	ORPHA:93950
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, An...	ORPHA:2554
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Scoliosis, Death in adoles...	OMIM:300717
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu...	OMIM:604757
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the humeru...	ORPHA:1794
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Fgfr2-Related Bent Bone Dysplasia	Overfolding of the superior helices, Natal tooth, Osteopenia, Hypoplastic ischia, Bowing of the l...	ORPHA:313855
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent sinopulmonary infections, Recurrent fractures, Craniosynostosis, Persistenc...	OMIM:147060
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo...	ORPHA:314795
Distal Deletion 15Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Generalized joint la...	ORPHA:1596
Occipital Horn Syndrome	Pes planus, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa va...	ORPHA:198
Developmental And Epileptic Encephalopathy 95	Joint laxity, Short fourth metatarsal, Brachydactyly, Posteriorly rotated ears, Single transverse...	OMIM:618143
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Polycystic ovaries, Acute kidney ...	ORPHA:275555
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alo...	OMIM:226650
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Respiratory insufficiency, High palate, Pulmonary hypoplasia, S...	OMIM:255320
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasi...	OMIM:602875
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Recurrent respiratory...	ORPHA:61
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans...	ORPHA:536471
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr...	OMIM:264700
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Malar fla...	ORPHA:93946
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Clinodac...	OMIM:619981
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Cleft palate, High palate, Low-set ears, Malar flattening, Open mouth	OMIM:620021
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Congenital hip dislocation	OMIM:614450
Hartsfield Syndrome	Craniosynostosis, Non-midline cleft lip, Split hand, Respiratory insufficiency, Cleft palate, Apl...	ORPHA:2117
Radio-Renal Syndrome	Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r...	ORPHA:3015
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short neck, Abnormal soft palate morphology,...	ORPHA:884
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Ectopic kidney, Renal cyst, Webbed neck, Anteriorly pla...	OMIM:117650
Bor Syndrome	Branchial cyst, Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dyspl...	ORPHA:107
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Hypospadias, Miscarriage, Short hallux, Proxim...	ORPHA:2438
Diamond-Blackfan Anemia 6	Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Mitral regurgitation, Triphalangeal thu...	OMIM:612561
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Proteinuria, Micromelia, Ulnar bowing, Madelung deformity, Hematuria, Aplasia/Hypo...	ORPHA:1765
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Micrognathia, High, narrow p...	OMIM:619941
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Epispadias, Short palm, Large iliac wing, Bifid...	ORPHA:2588
Hypertelorism, Microtia, Facial Clefting Syndrome	Micrognathia, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Short 5th...	OMIM:239800
Wilson-Turner Syndrome	Thin upper lip vermilion, Pes planus, Uplifted earlobe, Micrognathia, Tapered finger, Malar promi...	ORPHA:3459
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Abnormal preputium morpho...	ORPHA:293725
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Dental malocclusion, Hip dysp...	ORPHA:1858
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Single transverse palmar crease, Micrognathia, Congenital sensorineura...	ORPHA:73272
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Hypoplastic ischia, Protruding ear, Clinodact...	ORPHA:2616
Marshall Syndrome	Sparse eyelashes, Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, Sensorin...	ORPHA:560
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Rocker bottom foot, Camptodactyly o...	ORPHA:251056
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Hypospadias, Selective tooth agenesis, Micrognathia, Cleft palate, ...	OMIM:613823
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Hearing abnormality, Cleft palate, Reduced bone miner...	ORPHA:577
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Overfolded helix, Large fleshy ears, Widely spaced teeth, Low-set ear...	OMIM:619092
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Symphalangism affecting the ...	ORPHA:710
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Secondary amenorrhea, Polycystic ovaries, Decreas...	ORPHA:3085
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Femoral bowing, Anotia, Microtia...	OMIM:616462
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Joint laxity, Highly arched ...	OMIM:300867
Zimmermann-Laband Syndrome	Micrognathia, Short neck, Large fleshy ears, Overtubulated long bones, High palate, Bifid uvula, ...	ORPHA:3473
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Small hand, Short foot, High palate, Short philtrum, Recurrent otitis media, Clinod...	ORPHA:254531
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Absent eyebrow, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea,...	ORPHA:2707
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-sha...	OMIM:151210
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Rothmund-Thomson Syndrome Type 2	Osteopenia, Patellar hypoplasia, High palate, Microdontia, Sparse hair, Short phalanx of finger, ...	ORPHA:221016
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place...	OMIM:229850
Nance-Horan Syndrome	Diastema, Macrotia, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-sh...	OMIM:302350
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios...	OMIM:241310
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Micrognathia, Joint stiffness, Cleft palate, Protruding ear, Tooth agenesis, Multiple renal cysts...	ORPHA:1166
Pallister-Hall Syndrome	Abnormal lung lobation, Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening ...	OMIM:146510
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Short neck, Thick lower lip vermilion, Dental maloc...	ORPHA:2563
Yunis-Varon Syndrome	Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Micrognathia, S...	OMIM:216340
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe syndactyly, Camptodactyly of finger, Short neck, Long fing...	ORPHA:1617
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, Selective tooth agenesis, 1-4 finger ...	OMIM:225280
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Distal Duplication 18Q	Low-set, posteriorly rotated ears, Thickened nuchal skin fold, Hypoplasia of penis, Abnormal dent...	ORPHA:1716
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Pes planus, Arachnodactyly, Cleft lip, Synophrys, Cleft palate, Low posterior hairline,...	OMIM:300263
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Nephrocalcinosis, Short pa...	OMIM:268310
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ...	ORPHA:250984
Intellectual Developmental Disorder, Autosomal Recessive 68	Pes planus, Hypoplasia of the maxilla, Synophrys, Protruding ear, Broad eyebrow	OMIM:618302
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia...	OMIM:156500
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Adducted thumb, Ulnar deviation of...	ORPHA:1147
Restrictive Dermopathy 1	Ureteral duplication, Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death...	OMIM:275210
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypopl...	ORPHA:1512
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ...	OMIM:619752
Branchiootorenal Syndrome 1	Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal steatosis, Cleft pala...	OMIM:113650
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hyperextensibility of the knee, Hypoplasia of the maxilla, Palmoplantar hyperkerato...	OMIM:601812
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurr...	ORPHA:3409
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ...	OMIM:182212
Vater/Vacterl Association	Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th...	OMIM:192350
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis...	ORPHA:861
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Hypertrichosis, Cutaneous syndactyly, Finger...	OMIM:272440
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Ectopic kidney, Absent radius, Short thumb, Absent ...	OMIM:227645
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Down-sloping shoulders, Carious teeth, Synophrys, Joint hyperf...	ORPHA:1390
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Hypoplastic pulmonary veins,...	OMIM:618021
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Single transverse palmar crease, Micrognathia, Short neck, Glossoptosis, High palate,...	OMIM:611209
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Knee disl...	OMIM:143095
Sclerosteosis 2	Mandibular prognathia, Vertigo, Cutaneous finger syndactyly, Short finger, Hearing impairment	OMIM:614305
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
Braddock Syndrome	Abnormal hair pattern, Missing ribs, Unilateral renal agenesis, Preaxial hand polydactyly, Microg...	ORPHA:52047
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood	OMIM:616081
Trisomy 9P	Brachydactyly, Dental crowding, Short neck, Non-midline cleft lip, Impacted tooth, Downturned cor...	ORPHA:236
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Os...	ORPHA:99742
Facial Clefting, Oblique, 1	Deep palmar crease, Cleft palate, Cleft upper lip	OMIM:600251
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Short neck, Abn...	ORPHA:94068
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical...	OMIM:613573
Lethal Congenital Contracture Syndrome 1	Neonatal death, Widening of cervical spinal canal, Pulmonary hypoplasia, Micrognathia	OMIM:253310
Maxillonasal Dysplasia, Binder Type	Large earlobe, Dental malocclusion, Short distal phalanx of finger	OMIM:155050
Hydrolethalus	Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucou...	ORPHA:2189
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Short neck, Hip disloca...	OMIM:615583
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Partial duplication of the distal phalanx of th...	OMIM:101400
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Scoliosis, Cleft palate	ORPHA:85273
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, Cutaneous fi...	OMIM:211380
Schinzel-Giedion Syndrome	Micrognathia, Short neck, Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly place...	ORPHA:798
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Aganglionic megacolon, E...	ORPHA:59315
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, White hair, Abnormal finger mor...	ORPHA:896
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Alopecia totalis, Micrognathia, Absent thumb...	ORPHA:1234
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Frontal balding, Micrognathia, Short neck, High, narrow palate, Long f...	ORPHA:96092
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Short neck, Upper limb peromelia, Hypoplasia of the maxi...	ORPHA:1299
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Recurrent respiratory infections, Micr...	OMIM:618356
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Recurrent fractures, ...	OMIM:231070
Chromosome 17Q12 Deletion Syndrome	Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic kidney dysplasia, Highly...	OMIM:614527
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Low anterior hairline, Dislocated radial head, Syndactyly, Neona...	OMIM:605039
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor...	OMIM:258850
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Abnormal lung lobatio...	ORPHA:818
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr...	OMIM:617201
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Highly arched eyebrow, Cleft upper lip, Abnormal toe morphology,...	OMIM:216100
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Thickened nuchal skin fold, Cleft palate, Micrognathia	ORPHA:1779
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Sensorineural hearing impairment, Palmoplantar k...	OMIM:616029
Treacher Collins Syndrome 4	Micrognathia, Cleft palate, Preauricular hair displacement, Conductive hearing impairment, Malar ...	OMIM:618939
Craniofrontonasal Dysplasia	Orofacial cleft, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Broad hallux pha...	ORPHA:1520
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Pes planus, Natal tooth, Sparse scalp hair, Proteinuria, Sparse eyelashes, Sagittal craniosynosto...	OMIM:616901
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Patellar hypoplasia, Coxa vara, Micropenis, Genu varum, ...	OMIM:613803
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Micrognathia, Flexion contracture, Cleft palate, High palate, Low-set...	OMIM:618388
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelp...	ORPHA:2237
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of...	ORPHA:370010
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Sparse scalp hair, Posteriorly rotated ears, Highly arched eyebrow, Cl...	OMIM:615866
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft ...	ORPHA:77300
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Deep pa...	OMIM:311900
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Short neck, Sensorineural hearing impairment, Alveolar ridge overgrowth, Cleft...	OMIM:612938
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Mucopolysaccharidosis, Type Ix	Hyperextensibility at elbow, Acetabular erosions, Submucous cleft hard palate, Hyperextensibility...	OMIM:601492
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Micrognathia, Kyphosis, High palate, Prenatal death, Camptodactyly, Neonatal ...	OMIM:618393
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Short neck, Thick lower lip vermilion, Dental maloc...	OMIM:157980
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Pes planus, Tapered finger, Carious teeth, Narrow mouth, Micrognathia, Trismus, Elbow...	OMIM:272430
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, B...	OMIM:218600
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Respiratory distress, Thoracic scoliosis, Death in infancy, Cerebral hemor...	OMIM:620278
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Hypospadias, Hypopl...	OMIM:607143
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,...	OMIM:615993
Renpenning Syndrome	Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Macrodontia, Hypospadias, Joint s...	ORPHA:3242
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia...	OMIM:617895
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Absent frontal sinuses...	OMIM:119600
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu...	OMIM:617063
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Subglottic stenosis, Cyanosis, Craniosyno...	ORPHA:137914
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Single transverse palmar crease, Micrognathia, Rectal prolapse, Multiple bladder dive...	OMIM:613177
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Finger syndactyly, Brachydactyly, Microretrognathia, Low-set, posteriorly rotate...	ORPHA:1786
Coffin-Siris Syndrome 11	Cleft soft palate, Uplifted earlobe, Esophageal atresia, Small hand, Low posterior hairline, Down...	OMIM:618779
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar...	OMIM:122470
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Death in infancy, Epiphyseal stippling	OMIM:614876
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Sulfocysteinuria, Death in infancy, Increased urinary sulfite level, F...	OMIM:272300
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t...	OMIM:271665
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of t...	OMIM:619708
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Short neck, Low anterior hairline, Downturned corners of mouth, High palat...	ORPHA:369891
Recon Progeroid Syndrome	Attached earlobe, Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Pr...	OMIM:620370
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal hand morphology, Small hand, Premature graying of hair, Broad finger, Long philtrum, Low...	OMIM:300845
Distal Monosomy 7Q36	Hypoplasia of penis, Micrognathia, Short neck, Non-midline cleft lip, Symphalangism affecting the...	ORPHA:1636
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Multiple prenatal fractures, Flexion contracture, High palate, Pulmonary hypop...	OMIM:616866
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal...	ORPHA:70587
Renal Hypodysplasia/Aplasia 1	Proteinuria, Pulmonary hypoplasia, Talipes equinovarus, Low-set ears, Retrognathia	OMIM:191830
Shprintzen-Goldberg Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Protruding ear, Conduct...	ORPHA:2462
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Torticollis, Hypoplasia of the maxilla, Hypoplasia of the cochl...	ORPHA:251061
Congenital Factor Vii Deficiency	Ovarian cyst, Menorrhagia, Gingival bleeding	ORPHA:327
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Short neck, Bilateral cleft lip and palate, Clinodactyly of...	ORPHA:2001
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Bifid Nose With Or Without Anorectal And Renal Anomalies	Short lingual frenulum, Renal agenesis, Unilateral renal agenesis, Precocious puberty, Anteriorly...	OMIM:608980
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Emphysema,...	ORPHA:289
Frank-Ter Haar Syndrome	Osteopenia, Redundant neck skin, Micrognathia, Protruding ear, High palate, Short palm, Short pha...	OMIM:249420
Stickler Syndrome, Type I	Arachnodactyly, Micrognathia, Joint stiffness, Irregular femoral epiphysis, Submucous cleft hard ...	OMIM:108300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Femoral bowing, Anteriorly placed anus, Vesicoureteral reflux, Abnormality o...	ORPHA:95699
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Posteriorly rotated ears, Clinodactyly, Pierre-Robin se...	OMIM:619980
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered fing...	OMIM:616737
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Anal stenosis, Syndactyly, Hypospadias, Tracheomalacia, Microgna...	ORPHA:314679
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Death in infancy, Tented upper lip vermilion, ...	OMIM:618580
Crouzon Syndrome	Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis, Conductive hearing im...	ORPHA:207
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Arachnodactyly, Hypospadias, Abnormality of the dentition, Join...	ORPHA:1548
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, S...	ORPHA:2570
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Hydroureter, Abn...	ORPHA:568
Temple Syndrome	Posteriorly rotated ears, Micrognathia, Flexion contracture, Small hand, Cleft palate, Short foot...	OMIM:616222
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Short neck, Webbed neck, Lobulated tongue, Syndactyly, Cle...	OMIM:249000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp...	OMIM:618727
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum...	ORPHA:96184
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve...	OMIM:610910
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu...	ORPHA:2167
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Hip dyspla...	ORPHA:2655
Alg9-Cdg	Villous atrophy, Micrognathia, Short neck, Abnormal lung lobation, Large fleshy ears, Narrow grea...	ORPHA:79328
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, Aplasia of the distal phalanx o...	OMIM:608670
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Coxa valga, Micrognathia, Short neck, Abnormality of the elbow, C...	ORPHA:163649
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Cleft upper...	OMIM:263750
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Osteopenia, Osteomyelitis, Recurrent...	ORPHA:2314
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Hallux valgus, Mandibular prognathia, Stapes ankylosis, Dental crowdin...	OMIM:614188
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, M...	OMIM:612651
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairm...	OMIM:156550
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Abnormality of the hand, Downturned corners of mouth, Abnormality of th...	ORPHA:521308
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Single transverse palmar ...	ORPHA:96334
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Short neck, Calcaneovalgus deformity, Neonatal death, Fing...	OMIM:256520
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Brachydactyly, Dental crowding, Redundant neck skin, Short neck, Rectal prolaps...	OMIM:617157
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Brachydactyly, Hearing impairment, Craniosynostosis, Highly arched eyeb...	OMIM:619451
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Hypopl...	OMIM:187600
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Prematur...	OMIM:268400
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Carious teeth, Elbow...	ORPHA:2769
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Congenital muscular torticollis, Thickened nuchal skin fold, Vertebral fus...	ORPHA:2916
Emanuel Syndrome	Delayed eruption of teeth, Dental crowding, Unilateral renal agenesis, Cryptorchidism, Submucous ...	ORPHA:96170
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Tented upper lip vermilion, Toe syndactyly, Delayed eruption o...	ORPHA:819
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Unilateral renal agenesis, Postaxial polydactyly, Esophageal varix, Hip dysplas...	OMIM:614576
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Pr...	ORPHA:2251
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Triangular mout...	ORPHA:166024
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Synophrys, Hypertrichosis, Cleft palate, Protruding ear, Short philtrum, B...	ORPHA:85317
Larsen-Like Syndrome	Joint laxity, Conductive hearing impairment, Dental malocclusion, Cleft palate, Recurrent otitis ...	OMIM:608545
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi...	ORPHA:90793
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Low-set, posteriorly rotated ears, Micrognathia, Acromicria, Small hand, Downturned corners of mo...	ORPHA:254525
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Joint hyperflexibility	ORPHA:238446
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Malar flattening, ...	OMIM:268850
Larsen Syndrome	Finger syndactyly, Brachydactyly, Short nail, Craniosynostosis, Accessory carpal bones, Cleft pal...	ORPHA:503
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Sparse ha...	OMIM:305450
Sotos Syndrome	Mandibular prognathia, Pes planus, Joint laxity, Posteriorly rotated ears, Sparse eyebrow, High, ...	OMIM:117550
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal...	ORPHA:2750
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Lessel-Kubisch Syndrome	Renal insufficiency, Hypogonadism, Renal hypoplasia, Narrow mouth	OMIM:618681
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Supernumerary ...	OMIM:619194
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog...	ORPHA:1803
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Hearing impairment, Abnormality of the dentition, Carious tee...	ORPHA:53
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Uplifted earlobe...	OMIM:619841
Seckel Syndrome 2	Hypospadias, Micrognathia, Ectopic kidney, Clinodactyly of the 5th finger, Microdontia, Microglossia	OMIM:606744
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Sparse hair, Microdontia, Short phalanx of finger, Genu varum, S...	ORPHA:221008
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Camptodactyly of finger, Congestive heart failure, Wide mouth, Respiratory fail...	ORPHA:1194
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downt...	ORPHA:1507
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Shortening of all distal phalanges of the toes, Shortening of all distal phalanges of the fingers...	OMIM:106995
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip	ORPHA:2476
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Sparse hair, Abnormal numb...	OMIM:611174
Parietal Foramina 1	Wormian bones, Cleft palate, Cleft upper lip	OMIM:168500
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly r...	ORPHA:1908
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas...	ORPHA:2578
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Cleft palate, Webbe...	OMIM:602196
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Flexion contrac...	OMIM:222765
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Hearing im...	ORPHA:783
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Scapular winging, Supernumerary nipple, Micrognathia, Widow's peak, Submucous cleft h...	OMIM:619122
Hand-Foot-Genital Syndrome	Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicoureteral reflux,...	OMIM:140000
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop...	OMIM:135100
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like meta...	ORPHA:289157
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No...	ORPHA:199302
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Abnormality of the ear, Clinodactyly of the 5t...	ORPHA:2710
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Missing ribs, Ectopic kidney, Joint stiffness, Abnorma...	ORPHA:3027
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus ...	OMIM:224400
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Low anterior h...	OMIM:617666
Slc35A2-Cdg	Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal renal...	ORPHA:356961
Endosteal Hyperostosis, Autosomal Dominant	Sensorineural hearing impairment, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone ...	OMIM:144750
Waardenburg Syndrome Type 1	Mandibular prognathia, Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White ey...	ORPHA:894
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Hip dislocation, Respiratory insufficiency, Respiratory failure...	ORPHA:370968
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Low-set, posteriorly rotated ears, Hypospadias, Micrognathia, Epispadias, Short me...	ORPHA:1772
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Slender long bone, Decreased calvarial ossification...	OMIM:618265
3Mc Syndrome 2	Prominence of the premaxilla, Torticollis, Hypospadias, Joint hypermobility, Limited elbow moveme...	OMIM:265050
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Highly arched eyebrow, Unilateral renal agenesis, Syn...	OMIM:617190
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Sco...	OMIM:601357
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Highly arched eyebrow, Tapered finger, Hypoplasia of the maxilla, Short ne...	OMIM:609460
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Cleft palate, Thick vermilion border, Pulmonary hypoplasia, Talipes ...	ORPHA:250999
Myoectodermal Gonadal Dysgenesis Syndrome	Anal atresia, Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalanx of...	OMIM:618419
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Micropenis, Joint contrac...	OMIM:609029
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand p...	ORPHA:2920
Trisomy 17P	Hypoplasia of penis, Micrognathia, Short neck, Flexion contracture, Orofacial cleft, High palate,...	ORPHA:261290
Orofaciodigital Syndrome Xv	Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe...	OMIM:617127
Trisomy 13	Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, narrow palate,...	ORPHA:3378
Esophageal Atresia	Respiratory distress, Subglottic stenosis, Bronchitis, Clinodactyly, Aspiration, Abnormal vertebr...	ORPHA:1199
Ring Chromosome Y Syndrome	Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy...	ORPHA:261529
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Syn...	OMIM:213980
Adducted Thumbs Syndrome	Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory in...	OMIM:201550
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Micrognathia, Abnormal foot morphology, Abnormality of t...	OMIM:180860
Gapo Syndrome	Delayed eruption of teeth, Mandibular prognathia, Alopecia, Sparse eyelashes, Micrognathia, Spars...	ORPHA:2067
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Microti...	OMIM:227330
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Palmar hyperline...	OMIM:617337
Microtriplication 11Q24.1	Attached earlobe, Thick eyebrow, Posteriorly rotated ears, Short neck, Metatarsus adductus, Synop...	ORPHA:289522
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Thin upper lip vermilion, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral re...	OMIM:617641
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud...	ORPHA:73246
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, ...	OMIM:614120
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly,...	ORPHA:397590
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ...	OMIM:620076
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Palmoplantar blistering, Ear pain, Palmoplantar keratod...	ORPHA:2309
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Intestinal pseudo-obstruction, Short neck, Heparan sulfate excretion i...	OMIM:309900
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short p...	OMIM:617808
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, Highly arched eye...	OMIM:612292
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Sparse hair, Wr...	OMIM:268300
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Narrow palate, Low pos...	ORPHA:1323
Recombinant 8 Syndrome	Camptodactyly of finger, Micrognathia, Abnormal hair morphology, Cleft upper lip, Pulmonary arter...	ORPHA:96167
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Renal cyst, Do...	ORPHA:261494
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Vertebral fusion, Scapular win...	OMIM:272460
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Sparse eyebrow, Widow's peak, Cupped ear, Low-set ears, Clinodactyly o...	OMIM:167730
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Micrognathia, Missing ribs, Cleft palate, Low posterior hairline, Low-se...	OMIM:220210
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Elbow extension contracture, Ulnar deviation of the hand, Micrognathia,...	OMIM:616503
Fraser Syndrome	Hypoplasia of penis, Dental crowding, Abnormal lung lobation, Orofacial cleft, Urethral atresia, ...	ORPHA:2052
Genitopalatocardiac Syndrome	Cleft upper lip, Cleft palate, Micrognathia	OMIM:231060
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Upper limb undergrowth	OMIM:613124
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Vertebral fusion, Dental crowding, 2-3 toe syndactyly, Narrow p...	ORPHA:313892
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Reduced bone ...	ORPHA:561
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, Anter...	OMIM:612289
Acrofacial Dysostosis, Catania Type	Hypospadias, Single transverse palmar crease, Carious teeth, Widow's peak, Short palm, Spina bifi...	OMIM:101805
Triploidy	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestina...	ORPHA:3376
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Cleft palate, Low posterior hairline, Fused cervical vertebrae, Scoliosis, Cervi...	OMIM:214300
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Anauxetic Dysplasia 3	Recurrent respiratory infections, Short metacarpal, Sparse scalp hair, Broad eyebrow, Joint hyper...	OMIM:618853
Loeys-Dietz Syndrome 5	Pes planus, Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosi...	OMIM:615582
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Bilobed right lung, Anencep...	OMIM:612284
Kbg Syndrome	Thin upper lip vermilion, Vertebral fusion, Macrodontia, Single transverse palmar crease, Abnorma...	ORPHA:2332
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism...	ORPHA:2658
Trisomy 12P	Thickened nuchal skin fold, Thick eyebrow, Supernumerary nipple, Micrognathia, Short neck, Cleft ...	ORPHA:1699
Coach Syndrome 1	Unilateral renal agenesis, Postaxial hand polydactyly, Multiple small medullary renal cysts, Esop...	OMIM:216360
Vacterl With Hydrocephalus	Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Esophageal atresia, Hy...	ORPHA:3412
Scedosporiosis	Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Arthralgia/arthritis, Abn...	ORPHA:449280
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Sparse scalp hair, Hearing impairment, Carious teeth, Deep phi...	ORPHA:2701
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos...	ORPHA:828
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Posteriorly rotated ears, Single transverse ...	OMIM:247200
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Recurrent respiratory infections, U-Shaped upper lip vermilion, Toe syndac...	OMIM:601808
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Micrognathia, Minimal change glomerulon...	OMIM:616730
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Low...	ORPHA:235
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick ve...	OMIM:618505
Ehlers-Danlos Syndrome, Classic-Like	Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Vesicou...	OMIM:606408
Thomas Syndrome	Cleft palate, Cleft upper lip	ORPHA:3316
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Short neck, Abnormal finger morphology, Short palm, Large i...	ORPHA:2636
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er...	OMIM:619322
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle...	ORPHA:666
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Hand muscle atrophy, Short third metatarsal, Camptodactyly of finger, Peroneal muscle atrophy, Ab...	ORPHA:324442
Autosomal Recessive Hypophosphatemic Rickets	Abnormality of renal excretion, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, G...	ORPHA:289176
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Single transverse palmar crease, Accessory oral frenulum, Postaxial po...	OMIM:617927
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Retrognathia, High palate, Respiratory insufficiency	OMIM:615330
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bowing of the long bones, Bulging epiphyses, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Dental crowding, Posteriorly rotated ears, Micrognathia, Abnormality o...	ORPHA:2789
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt...	ORPHA:435638
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Bilateral cle...	OMIM:619339
Van Bogaert-Hozay Syndrome	Micrognathia, Abnormal hair morphology, Osteolytic defects of the phalanges of the hand, Tooth ma...	OMIM:277150
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Coxa valga, Flexion contracture, Short metatarsal, Cubitus valgus	OMIM:248800
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Monosomy 18P	Alopecia, Micrognathia, Carious teeth, Short neck, Cleft palate, Protruding ear, Downturned corne...	ORPHA:1598
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Pentalogy Of Cantrell	Encephalocele, Hypospadias, Talipes, Non-midline cleft lip, Split hand, Abnormal tibia morphology...	ORPHA:1335
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Protruding ear...	ORPHA:1131
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Broad palm, Narrow palate, Broad ph...	OMIM:277600
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Or...	OMIM:175200
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, 2-3 toe syndac...	ORPHA:3304
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensorineural hearing...	OMIM:109120
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia, Bilateral conductive hearing impairment, Lo...	OMIM:617802
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Arterial Tortuosity Syndrome	Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnoda...	ORPHA:3342
Abruzzo-Erickson Syndrome	Hypospadias, Cleft palate, Protruding ear, Radioulnar synostosis, Macrotia, Hearing impairment	OMIM:302905
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Dental crowding, Cutaneous finger syndactyly, Conductive hearing...	OMIM:219000
Cranioectodermal Dysplasia 4	Joint hypermobility, Sagittal craniosynostosis, Recurrent pneumonia, Stage 5 chronic kidney disea...	OMIM:614378
Limb-Mammary Syndrome	Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Submucous cleft soft palate, Cleft hard pala...	ORPHA:69085
Schizophrenia 1	Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o...	OMIM:181510
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Osteopenia, Joint laxity, Brittl...	OMIM:607812
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon...	ORPHA:244
Dihydropyrimidinase Deficiency	Uraciluria, Short phalanx of finger, Talipes equinovarus, Anal atresia	OMIM:222748
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Pes planus, Posteriorly rotated ears, Single transverse palmar crease, Joi...	OMIM:617804
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Everted lower lip v...	OMIM:601499
Hennekam Syndrome	Abnormal oral mucosa morphology, Ectopic kidney, Short philtrum, Conductive hearing impairment, F...	ORPHA:2136
Restrictive Dermopathy	Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Structural foot defo...	ORPHA:1662
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Low-set ears, Mic...	OMIM:612626
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Mandibuloacral Dysplasia	Alopecia, Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contrac...	ORPHA:2457
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Xerostomia, Anterio...	OMIM:604292
Geleophysic Dysplasia 3	Subglottic stenosis, Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movem...	OMIM:617809
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Sparse eyelashes, Camptodactyly of finger, Hypoplasia of the m...	ORPHA:306542
Mulibrey Nanism	Dental crowding, Single transverse palmar crease, Thickened cortex of long bones, Absent frontal ...	OMIM:253250
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Aganglionic megacolon, Postaxial hand polydactyly, Renal agenesis, Foot polydactyly	ORPHA:2155
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Aplasia of the pectoralis ...	ORPHA:1358
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Micrognathia, Glomerulomegaly, Bilat...	ORPHA:2260
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Absent earlobe, Bilateral cam...	OMIM:619557
Microcephaly-Albinism-Digital Anomalies Syndrome	Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes	ORPHA:2513
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Unilateral renal agenesis, Neonatal death, Anal atresia, Persistent cloaca	OMIM:615709
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Pes planus, Broad hallux, Short neck, Abnormal hair whorl, Synophrys, 2-3 toe syndactyly, Horsesh...	OMIM:300860
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow...	OMIM:615108
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing, H...	ORPHA:251028
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Webbed penis, Micropenis, Fused thoracic vertebra...	ORPHA:97360
Orofaciodigital Syndrome V	Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Sandal gap, Agangli...	OMIM:174300
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Thick eyebrow, Sandal gap, Posteriorly rotated ea...	OMIM:619229
Qazi-Markouizos Syndrome	Torticollis, Tapered finger, High, narrow palate, Hypoplasia of teeth, Delayed ossification of ca...	ORPHA:3010
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Long eyelashes, Spina bifida ...	ORPHA:1514
Desmosterolosis	Low-set, posteriorly rotated ears, Increased bone mineral density, Intestinal malrotation, Microm...	ORPHA:35107
Zaki Syndrome	Sparse scalp hair, Toe syndactyly, Micrognathia, Sparse eyebrow, Long fingers, Wide mouth, Median...	OMIM:619648
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Cleft upper lip	OMIM:120433
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Hypoplastic nipples,...	OMIM:603543
Alkuraya-Kucinskas Syndrome	Overlapping toe, Posteriorly rotated ears, Micrognathia, Abnormal foot morphology, Cutaneous synd...	OMIM:617822
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu...	ORPHA:1811
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Deep philtrum, Abnormal tibia morphology, Synophrys, Low anterior hairl...	ORPHA:251014
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus, Pulmonary hypoplasia	OMIM:618174
Galloway-Mowat Syndrome 7	Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Single transverse palmar crease, Prot...	OMIM:618348
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries	OMIM:268020
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure...	ORPHA:132
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Short neck, Sensorineural he...	OMIM:614230
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypergonadotropic hypogonadism, Dysmenorrhea, Hypospadias, Decreased fe...	ORPHA:90796
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Syndactyly, Alopecia, Ha...	OMIM:311200
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont...	ORPHA:496689
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia, Intestinal malrotation	ORPHA:3032
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Microg...	ORPHA:2754
Sweeney-Cox Syndrome	Uplifted earlobe, Micrognathia, Low anterior hairline, High palate, Short philtrum, 2-5 toe synda...	OMIM:617746
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure	OMIM:616867
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Non-midline c...	ORPHA:1300
Renal Tubular Dysgenesis	Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephrop...	ORPHA:3033
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Accessory oral frenulum, Micromelia, Aplastic clavicle, Postaxial polydactyl...	OMIM:616546
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Proximal placement of thumb, Short neck, Sparse hair, Diastema...	OMIM:212066
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig...	OMIM:123500
Tetrasomy 9P	Glue ear, Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High palate, Sh...	ORPHA:3310
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Hypospadias, Single transverse palmar crease, Uplifted earlobe, Recur...	OMIM:616449
Double Outlet Right Ventricle	Tachycardia, Cyanosis, Intestinal malrotation, Abnormality of cartilage of external ear, Submucou...	ORPHA:3426
Trisomy 20P	Micrognathia, Short neck, Low anterior hairline, Protruding ear, Downturned corners of mouth, Red...	ORPHA:261318
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Mixed hearing impairment, Calcaneal epiphyseal stippling, Hypop...	ORPHA:79345
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Abnormal radial ray morphology, Duodena...	OMIM:617784
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h...	OMIM:615994
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia, Intestinal malrotation, Hypoxemia	ORPHA:2140
Dyskeratosis Congenita	Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Sparse hair, Alo...	ORPHA:1775
Klippel-Feil Syndrome 1, Autosomal Dominant	Cleft palate, Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Buratti-Harel Syndrome	Broad hallux, Posteriorly rotated ears, Hypospadias, Velopharyngeal insufficiency, Submucous clef...	OMIM:619314
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Xerostomia, Oligodo...	OMIM:129900
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Sparse hair, Microdontia, Hyp...	ORPHA:2909
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia...	OMIM:192445
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Clino...	OMIM:619293
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl...	ORPHA:261330
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Pes planus, Sandal gap, Posteriorly rotated ears, Tapered finger, Cleft lip, Small hand, Cleft pa...	OMIM:618089
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Dental crowding, Posteriorly rotated ears, Joint hypermobil...	OMIM:130720
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Native American Myopathy	Joint laxity, Micrognathia, Conductive hearing impairment, Cleft palate, Downturned corners of mo...	ORPHA:168572
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Joint laxity, Micrognathia, Sensorineural hearing ...	OMIM:269880
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Syndactyly, Narrow mouth, Pulmonary lymphangiectasia, Osteoporosis, Microtia...	OMIM:616006
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Sparse hair, Clino...	ORPHA:2108
Axenfeld-Rieger Syndrome	Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, M...	ORPHA:782
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Hig...	OMIM:182250
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Redundant neck skin, Abnormal pinna morphology, Hypospadias, Proximal placement of th...	OMIM:217980
Anauxetic Dysplasia 1	Mandibular prognathia, Hip contracture, Joint laxity, Rhizomelia, Short neck, Hypoplastic ilia, S...	OMIM:607095
Congenital Myopathy 10B, Mild Variant	Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Knee contracture, Cleft palate...	OMIM:620249
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Short Stature-Micrognathia Syndrome	Joint laxity, Penoscrotal hypospadias, Rhizomelia, Bowing of the legs, Coxa valga, Micrognathia, ...	OMIM:617164
Sirenomelia	Absence of the sacrum, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenomelia, Aplasia/...	ORPHA:3169
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia	OMIM:616540
Familial Partial Lipodystrophy, Köbberling Type	Polycystic ovaries	ORPHA:79084
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty...	OMIM:300963
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Recurrent respiratory infections, Congenital hip dislocation, Toe syndactyly, ...	ORPHA:217346
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyl...	OMIM:616145
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubb...	ORPHA:60033
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ...	ORPHA:2928
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa...	ORPHA:508533
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Neuronal Intestinal Pseudoobstruction	Natal tooth, Malabsorption	ORPHA:99811
Blepharonasofacial Malformation Syndrome	Finger syndactyly, External ear malformation, Abnormal eyelash morphology, Non-midline cleft lip,...	ORPHA:1252
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall...	ORPHA:959
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Lambert Syndrome	Wide mouth, Malar flattening, Branchial anomaly, Hypospadias	ORPHA:1296
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries, Advanced eruption of teeth	ORPHA:2348
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Everted lower lip vermili...	OMIM:608013
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Synophrys, Downturned corners of mouth, Short philtrum, Slender finger, Smooth p...	OMIM:613192
Akt2-Related Familial Partial Lipodystrophy	Oligomenorrhea, Polycystic ovaries	ORPHA:79085
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow...	OMIM:615109
Kury-Isidor Syndrome	Finger syndactyly, Alopecia, Tented upper lip vermilion, Rocker bottom foot, Proximal placement o...	OMIM:619762
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced te...	OMIM:617865
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse h...	ORPHA:1264
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Long penis, High palate, Advanced eruption of teeth, Hypertrichosis	OMIM:262190
Genitopatellar Syndrome	Congenital hip dislocation, Micrognathia, Knee flexion contracture, Anteriorly placed anus, Micro...	OMIM:606170
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P...	ORPHA:1302
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Hearing impairment, Abnormali...	ORPHA:364577
Blepharocheilodontic Syndrome 1	Conical tooth, Cleft upper lip, High anterior hairline, Cutaneous syndactyly, Hypodontia, Sparse ...	OMIM:119580
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Tooth malposition, Renal hypoplasia, Micropenis, Spars...	OMIM:616541
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Everted upper lip vermilion, Hearing impairment, Abnormality o...	OMIM:182290
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries, Macroglossia...	ORPHA:528
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydranencephaly, Spina bifida, Micrognathia, Trac...	ORPHA:1393
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Multicystic ...	OMIM:107480
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Renal cyst, Polydactyly, Brachydactyly	OMIM:615982
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Carious teeth, Preaxial hand polydactyly, Absent eyelashes, Cleft palat...	ORPHA:2316
Intermediate Nemaline Myopathy	High, narrow palate, Respiratory failure, Long philtrum, Cardiomyopathy	ORPHA:171433
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea...	ORPHA:2038
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, Deep philtrum, Synophrys, Protruding ear, Short philtrum, Joint ...	OMIM:620098
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove...	OMIM:619793
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Chronic pulmon...	ORPHA:2414
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Short neck, Snail-like ilia, Advanced tarsal oss...	OMIM:269250
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Oculoauriculofrontonasal Syndrome	Encephalocele, Micrognathia, Cleft lip, Cleft palate, Microtia, Narrow mouth, Conductive hearing ...	ORPHA:398156
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, M...	OMIM:180849
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Lelis Syndrome	Mandibular prognathia, Carious teeth, Yellow nails, Palmoplantar hyperkeratosis, Furrowed tongue,...	ORPHA:140936
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Highly arched eyebrow, Cleft upper lip, Duplication of phalanx of hallu...	OMIM:243310
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries	OMIM:615363
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Absent or minimally ossified vertebral...	ORPHA:93271
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth	OMIM:137550
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Sensori...	ORPHA:1825
Nasopalpebral Lipoma-Coloboma Syndrome	Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Abnormal eyelash morphology,...	ORPHA:2399
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capi...	ORPHA:199241
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e...	ORPHA:1784
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic ...	ORPHA:98914
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia	OMIM:274265
Congenital Myasthenic Syndrome	Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic ...	ORPHA:590
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus, Bifid uvula, Cleft palate	OMIM:258320
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, Clinodactyly, High palate, Joint contracture of the 5th finge...	OMIM:164200
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria, Arthritis	ORPHA:375
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Posteriorly rotated ears, Rocke...	OMIM:301041
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Scoliosis, Bifid uvula, Cleft palate, Cleft upper lip	OMIM:300958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Macroglossia, Respiratory failure, Shoulder girdle mus...	OMIM:606612
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Skraban-Deardorff Syndrome	Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, Recurrent otitis media, Pes ...	OMIM:617616
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Alopecia, Abnormal dental enamel morphology...	ORPHA:1005
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Joint laxity, Overlapping toe, Rocker bottom f...	ORPHA:488642
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Down-sloping sho...	ORPHA:1974
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Finger syndactyly, Multicystic kidney dysplasia, Alopecia, Abnor...	ORPHA:2092
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Micrognathia, Knee flexion contracture, High palate,...	ORPHA:2020
Lipodystrophy, Familial Partial, Type 3	Oligomenorrhea, Primary amenorrhea, Polycystic ovaries	OMIM:604367
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnor...	OMIM:276950
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cranial hyperostosis, Hypoplast...	OMIM:601345
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid...	ORPHA:93357
Jeune Syndrome	Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd...	ORPHA:474
Marshall-Smith Syndrome	Irregular dentition, Brittle hair, Large sternal ossification centers, Synophrys, Distal widening...	OMIM:602535
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Bnar Syndrome	Anal stenosis, Short lingual frenulum, Renal agenesis, Abnormal fifth toe morphology, Anteriorly ...	ORPHA:217266
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Micropenis, Gingival bleeding, Volvulus, Decreased testicular size	ORPHA:335
Myopathy, Centronuclear, 5	Hip contracture, Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula	OMIM:615959
Donohue Syndrome	Precocious puberty, Long penis, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Ovari...	OMIM:246200
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, High palate, Polycystic ovaries	ORPHA:284180
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxilla, Malar flat...	OMIM:620157
Acrofrontofacionasal Dysostosis 2	Thickened nuchal skin fold, Syndactyly, Redundant neck skin, Broad hallux, Posteriorly rotated ea...	OMIM:239710
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Generalized joint laxity, Fused t...	ORPHA:93932
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Neurofaciodigitorenal Syndrome	Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphology, Unilateral renal a...	ORPHA:2673
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Premature thelarche, Renal salt wasting, Isosexual precocious puberty, Prec...	ORPHA:90795
Dysspondyloenchondromatosis	Lower limb asymmetry, Abnormal fibula morphology, Genu valgum, Metaphyseal enchondromatosis, Abno...	ORPHA:85198
Pachyonychia Congenita 2	Natal tooth, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Palmoplantar hyperke...	OMIM:167210
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Lower limb...	ORPHA:404440
Naxos Disease	Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Cleft upper lip...	ORPHA:34217
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Abnormal dental enamel morphology, Kyphoscoliosis, Trichiasis, Cleft upper lip, C...	OMIM:601701
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact...	OMIM:610829
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tented upper lip vermilion, Tapered finger, Narrow palate, Respiratory failure, Scoliosis	OMIM:616505
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Uplifted earlobe, Tapered finger, Abnormality of the dentition, Tracheomalacia, Thic...	ORPHA:261652
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, Short long bone, Short...	OMIM:618188
Intellectual Developmental Disorder, Autosomal Dominant 21	Posteriorly rotated ears, Single transverse palmar crease, Narrow mouth, Cleft palate, Thin vermi...	OMIM:615502
Orofacial Cleft 14	Median cleft lip	OMIM:615892
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Abnormal lung lobation, Phocomelia, Microgastria, Aplastic clavicle, ...	ORPHA:2538
Hypoglossia With Situs Inversus	Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia	OMIM:612776
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Hypoplasia of the odontoid pro...	OMIM:253200
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Nephrocalcinosis, Flexion contracture	OMIM:617105
Zttk Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Downtur...	OMIM:617140
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, A...	ORPHA:1101
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Tetraamelia Syndrome 1	Micrognathia, Cleft upper lip, Peripheral pulmonary vessel aplasia, Cleft palate, Urethral atresi...	OMIM:273395
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, M...	ORPHA:347
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic...	ORPHA:1225
Cutis Laxa, Autosomal Dominant 3	Hip dislocation, Talipes equinovarus, Unilateral renal agenesis, Adducted thumb	OMIM:616603
Waardenburg Syndrome, Type 3	Mandibular prognathia, Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Sensorin...	OMIM:148820
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Cleft upper lip, Tela...	OMIM:612582
Fetal Alcohol Syndrome	Thin upper lip vermilion, Micrognathia, Non-midline cleft lip, Cleft palate, Vertebral segmentati...	ORPHA:1915
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d...	ORPHA:521445
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Overlapping toe, Apnea, Genu recurvatum, Elbow flexion contracture, Hip dislocat...	OMIM:617301
3C Syndrome	Finger syndactyly, Recurrent respiratory infections, Hypoplasia of penis, Hypospadias, Intestinal...	ORPHA:7
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Short neck, Cl...	OMIM:616038
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Low anterior hairline, Dow...	OMIM:619950
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly ...	OMIM:280000
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
6P22 Microdeletion Syndrome	Finger syndactyly, Short neck, Overfolded helix, Low-set ears, Clinodactyly, Hydronephrosis, Abno...	ORPHA:251046
Renal Agenesis, Bilateral	Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m...	ORPHA:1848
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, At...	ORPHA:258
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t...	ORPHA:3138
Ohdo Syndrome	Joint laxity, Proteinuria, Hearing impairment, Micrognathia, Sparse eyebrow, Abnormal foot morpho...	OMIM:249620
Genitopalatocardiac Syndrome	Micrognathia, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Cleft palate, Downturn...	ORPHA:2075
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Joint laxity, Arachno...	ORPHA:3379
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Downturned corners...	OMIM:613443
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal...	ORPHA:3301
Ogden Syndrome	Congenital hip dislocation, Apnea, Micrognathia, Deep philtrum, Ventricular tachycardia, High pal...	OMIM:300855
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Atelectasis, High palate, Neonatal death, Retrognathia	OMIM:300219
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Trach...	OMIM:619227
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Anotia, Conduct...	OMIM:164210
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft lip	ORPHA:2007
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, Neph...	OMIM:617402
Progeroid Syndrome, Petty Type	Mandibular prognathia, Low-set, posteriorly rotated ears, Brittle hair, Abnormal hair morphology,...	ORPHA:2963
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
De Barsy Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Osteopenia, Congenital hip disloca...	ORPHA:2962
Bangstad Syndrome	Abnormality of the dentition, Abnormality of the parathyroid gland, Abnormal testis morphology, P...	ORPHA:1227
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cleft lip, C...	ORPHA:2890
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Long fingers, Protruding ear, High palate, Talipes equinovarus...	ORPHA:169186
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Respiratory failure	OMIM:613435
Isotretinoin Syndrome	Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality of the outer ear	ORPHA:2305
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Abnorma...	ORPHA:284160
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Brittle hair, Dental crowding, Hypospadias, Joint stiffne...	OMIM:619184
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Pulmonary...	ORPHA:86822
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Overlapping toe, Hypospadias, Proximal plac...	ORPHA:487796
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus, Cleft palate, Cleft upper lip	OMIM:613885
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Silver-Russell Syndrome 3	Syndactyly, Elbow contracture, Small hand, Low-set ears, Clinodactyly of the 5th finger, Retrogna...	OMIM:616489
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Limited elbow movement, Abnormal hand morphology, High palate, Hypoplasia of the ...	ORPHA:319171
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Alopecia, Hypospadias, Abnormal...	ORPHA:2315
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Increased nuchal translucency, Pie...	OMIM:620183
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:309583
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Abnormal respiratory sys...	ORPHA:98905
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Joint dislocation, Toe syndactyly, Death in infancy, Camptodact...	ORPHA:2008
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Talipes, Recurrent fr...	ORPHA:83
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac...	ORPHA:36238
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Arachnodactyly, Single transverse palmar crease, Overlapping toe, Micrognathia, Pyloric stenosis,...	ORPHA:83617
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria	ORPHA:839
Opsismodysplasia	Recurrent respiratory infections, Short metacarpal, Rhizomelia, Posteriorly rotated ears, Short n...	OMIM:258480
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic ...	OMIM:613312
Bamforth-Lazarus Syndrome	Abnormal hair quantity, Retrognathia, Cleft palate	ORPHA:1226
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
19P13.3 Microduplication Syndrome	Posteriorly rotated ears, Micrognathia, Long fingers, Hip dislocation, Osteoporosis, Cleft palate...	ORPHA:447980
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Glass Syndrome	Dental crowding, Anterior tibial bowing, Conical tooth, Micrognathia, Oligodontia, High palate, S...	OMIM:612313
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Redundant neck skin, Overlapping toe, Posteriorly rotated ears, Hypospadias, Cranios...	OMIM:123790
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Acalvaria	Talipes, Spina bifida, Postaxial hand polydactyly, Abnormal lung lobation, Cleft palate	ORPHA:945
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Short neck, Knee flexion contracture, High palate, Wrist flexion contra...	OMIM:121050
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Hearing impairment, Tapered finger, Micrognathia, Short neck, Macrotia, Synophrys, Narrow palate,...	OMIM:620250
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip and ...	OMIM:618874
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi...	OMIM:610759
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Apnea	OMIM:610992
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Posteriorly rotated ears, A...	OMIM:211750
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, High, narrow palate, Sensorineural hearing impairmen...	ORPHA:53271
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia...	ORPHA:2973
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate	OMIM:607371
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Proteinuria, Pneumonia, Bowing of the legs, Hyp...	ORPHA:1855
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Anophthalmia Plus Syndrome	Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of finger, Vertebr...	ORPHA:1104
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Craniosynostosis, Ankle flexion contracture, Micrognathia, Knee flexion contracture, Bilateral ta...	ORPHA:284417
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Long eyebrows, Cleft upper lip, Widow's peak, Cleft pala...	OMIM:201180
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Shoulder girdle muscle weakness	OMIM:604801
Hypomelanosis Of Ito	Syndactyly, Alopecia, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radi...	OMIM:300337
Ataxia-Telangiectasia	Abnormal testis morphology, Polycystic ovaries	ORPHA:100
Chime Syndrome	Short philtrum, Short palm, Microdontia, Sparse hair, Abnormal dental morphology, Aplastic clavic...	ORPHA:3474
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Pes planus, Sparse scalp hair, Sagittal craniosynostosis, Micrognathia, Sparse eyebrow, Small han...	ORPHA:459061
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Sandal gap, Highly arched eyebrow, Mi...	OMIM:270450
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Vesicoureteral reflux, Clinodactyly of the...	OMIM:616580
Acromelic Frontonasal Dysostosis	Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia...	OMIM:603671
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing, Hypercalciuria, Medullary nephrocalcinosis	OMIM:617993
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Short neck, Long fingers, 2-3 toe cutaneous syndactyly, Lon...	OMIM:301091
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Angioedema, ...	ORPHA:449285
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Unilateral renal agenesis, Thin lower lip vermilion, Clinodac...	ORPHA:221139
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Low anterior hairline, Oligodontia, Sparse ...	OMIM:272950
Immunodeficiency 49	Natal tooth, Posteriorly rotated ears, Micrognathia, Pulmonary artery stenosis, Short philtrum, U...	OMIM:617237
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Cleft upper lip, Abnormal hair morphology, High, narrow pal...	OMIM:607597
Pparg-Related Familial Partial Lipodystrophy	Dysmenorrhea, Primary amenorrhea, Polycystic ovaries, Secondary amenorrhea, Oligomenorrhea	ORPHA:79083
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Short neck, Webbed neck, Knee dislocation, Shoulder dislocation, Microd...	OMIM:245600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocation, Delayed os...	OMIM:618395
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Posteriorly rotated ears, Hypospadias, Micrognathia, Cleft palate, Pate...	OMIM:603736
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Short nail, Micromelia, Short neck, Deep philtru...	ORPHA:1675
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Rhizomelia, Proteinuria, Glomerulonephritis, Short iliac bones, Supernu...	OMIM:614376
Chromosome 2Q35 Duplication Syndrome	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Fi...	OMIM:614800
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Urethr...	ORPHA:1896
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Thick hair, Abnormality of the dentition, Long penis, Low...	ORPHA:769
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis...	ORPHA:659
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Pes planus, Sparse scalp hair, Hypospadias, Single transve...	OMIM:223370
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat...	ORPHA:747
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia	OMIM:614381
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous polyposis, Hi...	OMIM:158350
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Downturned corners of mouth, Unilateral renal agenesis, Micrognathia	ORPHA:1064
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of th...	ORPHA:3107
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, ...	ORPHA:1328
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Glandular hypospadias, Short femur, Talipes equinovarus	OMIM:620306
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Hypertension, Pulmonary hypoplasia	OMIM:616733
Acute Lung Injury	Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal...	ORPHA:178320
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Long eyebrows, Tapered finger, Long fingers, Thick lower lip vermilion, Atrioventricular block, J...	OMIM:614407
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost...	ORPHA:3219
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Dental malocclusion, 2-3 finger syndactyly...	OMIM:269500
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume...	ORPHA:3353
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra...	ORPHA:562
Velocardiofacial Syndrome	Talipes, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pier...	OMIM:192430
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Low anterior hairline, Downturned corners of ...	ORPHA:79500
Chromosome 18P Deletion Syndrome	Toe syndactyly, Posteriorly rotated ears, Redundant neck skin, Micrognathia, Short neck, Coxa var...	OMIM:146390
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Hypoplasia of penis, Joint stiffness, Synophrys, Genu va...	ORPHA:1295
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse...	OMIM:615656
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hig...	OMIM:115150
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynos...	ORPHA:1790
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ...	OMIM:130070
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Large ilia...	ORPHA:3168
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sparse eyebrow, Sensorineural h...	OMIM:606164
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Carious teeth, Pyloric stenosis, Low-set ears, Eclabion, Tiger tail ba...	OMIM:616395
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te...	OMIM:614880
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Micrognathia, Missing ribs, Short neck, Abnormality of the ureter, Trach...	ORPHA:1834
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Sensorineural hearing impai...	ORPHA:1883
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Cleft lip, Hypogonadotropic hypogonadism, Cleft palate	OMIM:612370
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Cidec-Related Familial Partial Lipodystrophy	Oligomenorrhea, Polycystic ovaries	ORPHA:435651
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Dystrophic finge...	ORPHA:2907
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Slow-growing hair, Abnormality of ...	ORPHA:238468
Charge Syndrome	Abnormal palmar dermatoglyphics, Micrognathia, Hand monodactyly, Micropenis, Hypoplasia of the ul...	OMIM:214800
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Intestinal malrotation, Hypoxemia, Pulmonary hypoplasia, Pulmonary...	ORPHA:2847
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Synophrys, Downturned corners of ...	OMIM:615162
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Apnea, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy	OMIM:616277
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Protruding tongue, Abnormal thumb morphology, Contractures of the large jo...	ORPHA:324410
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sa...	OMIM:614099
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thickened nuchal skin fold, Thin upper lip vermilion, Death in infancy, Redundant neck skin, Micr...	OMIM:235255
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Tricuspid regurgitation, Proximal placement of thumb, Abnormal thumb morphology...	ORPHA:1120
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Aortopulmonary window, Web...	OMIM:620025
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Low anterior hairline, Downturned corners of mouth, High palate, Triphalangeal thumb, Clinodactyl...	OMIM:220500
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Abnormal pinna morphology, Micromelia, Short neck, Craniosynostosis, Postaxial...	OMIM:200995
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Pes planus, Abnormal dental morphology, Underdeveloped superior crus o...	ORPHA:369950
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Abnormal hair patte...	ORPHA:920
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse p...	OMIM:181270
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Congenital Heart Block	Cyanosis, First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure,...	ORPHA:60041
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Hypospadias, Cleft soft palate, Highly arched eyebrow, Microgna...	ORPHA:2282
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Floating-Harbor Syndrome	Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Humeral pseudar...	ORPHA:2044
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Short neck, Synophrys...	ORPHA:199
Microphthalmia, Syndromic 9	Micrognathia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Renal hypoplasia, Hors...	OMIM:601186
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of...	ORPHA:261344
Kapur-Toriello Syndrome	Single transverse palmar crease, Camptodactyly of finger, Intestinal malrotation, Cleft upper lip...	OMIM:244300
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Renal cyst, High palate,...	OMIM:102500
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Renal insufficiency, Enlargement of the ankles, Bowing of the legs, Delayed ep...	OMIM:300554
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Hypoplasia of the odontoid process, Pierre-Robin sequence, Hi...	OMIM:183900
Mosaic Trisomy 8	Abnormal pinna morphology, Camptodactyly of finger, Micrognathia, Short neck, Patellar aplasia, L...	ORPHA:96061
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Oligomenorrhea, Polycystic ovaries	ORPHA:435660
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Underdeveloped superior crus of antihelix, Micrognathia, Highly ar...	ORPHA:293967
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou...	ORPHA:582
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Cleft palate, Cleft upper lip	ORPHA:398189
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Recurrent fractures, Carious teeth, Osteoporosis, Femoral b...	OMIM:126550
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Synophrys, Everted lower lip verm...	ORPHA:357175
Penoscrotal Transposition	Hypospadias, Renal agenesis, Micrognathia, Abnormality of the urethra, Penoscrotal transposition,...	ORPHA:2842
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinod...	OMIM:184250
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Intestinal obstruction, Stomach cancer, Enlarged polycystic ovaries, E...	ORPHA:2869
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Congestive heart failure, Death in adolescence, S...	OMIM:619751
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Single transverse palmar crease, Exaggerated cupid's bow, Retrognathia...	ORPHA:254528
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Single transverse palmar c...	OMIM:616788
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Adnp Syndrome	Single transverse palmar crease, Urinary incontinence, Abnormal finger morphology, Protruding ear...	ORPHA:404448
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Abnormal pinna morphology, Hypospadias, Pos...	OMIM:614175
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Single interphalangeal crease of fifth finger, High...	OMIM:257920
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Intestinal malrotation,...	OMIM:617866
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Arthritis, Vasculitis in the skin, Recu...	OMIM:620321
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Protruding ear, ...	ORPHA:534
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Alopecia, Abnormal dental morphology, Abnormal dent...	ORPHA:464
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Conical tooth, Ectopic kidney, Prominent interphalange...	OMIM:135900
Neurooculorenal Syndrome	Hypoplasia of the bladder, Intestinal malrotation, Short hallux, Micrognathia, Unilateral renal a...	OMIM:620305
Severe Congenital Nemaline Myopathy	Hypospadias, Multiple prenatal fractures, Flexion contracture, Pulmonary hypoplasia, Low-set ears...	ORPHA:171430
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Esophageal atresia, Deep ph...	OMIM:610536
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Cleft palate, Methylmalonic aciduria, Stomatitis, Glossitis	ORPHA:79284
Neuhauser Syndrome	Osteopenia, Pes planus, Arachnodactyly, Genu recurvatum, Micrognathia, Cupped ear, Low anterior h...	OMIM:249310
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Cleft palate, Protruding ear, Low posterior hairline, Thick vermilion b...	OMIM:619493
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Nephropathy, Abnormal dental enamel morphology	ORPHA:2238
Diaphanospondylodysostosis	Short neck, Missing ribs, Myelomeningocele, Cleft palate, Narrow pelvis bone, Multiple renal cyst...	ORPHA:66637
19P13.12 Microdeletion Syndrome	Short neck, Synophrys, Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger,...	ORPHA:254346
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Structural...	ORPHA:464306
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Sensorineu...	ORPHA:3214
Nail-Patella Syndrome	Biceps aplasia, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Cleft upper lip, Triceps aplasia,...	OMIM:161200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Congestive heart failure, ...	OMIM:616482
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Small ha...	OMIM:241410
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Highly arched eyebrow, Ectopic kidney, Short toe, Widow's peak, Orofacial clef...	ORPHA:1519
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia	OMIM:129550
Marden-Walker Syndrome	Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, A...	ORPHA:2461
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Micrognathia, Renal hypopl...	ORPHA:171839
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cleft upper lip, Cleft palate, Tooth agenesis, Ectrodactyly, Clinodactyly	OMIM:147950
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Palmar pits, Plantar p...	ORPHA:77301
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Highly arched eyebrow, Cleft palate, Malar flattening, Smooth philtrum	OMIM:611867
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Bowing of the long bones	ORPHA:199276
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Respiratory failure	OMIM:616794
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Anteverted ears, Sparse hair, Clinodactyly, Hirsutism	OMIM:618087
Lymphedema-Distichiasis Syndrome	Micrognathia, Yellow nails, Kyphosis, Cleft upper lip, Cleft palate, Chylothorax, Arrhythmia, Dis...	OMIM:153400
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Miscarriage, Preaxial hand polydactyly, Respiratory infections in ...	ORPHA:96179
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas...	ORPHA:508488
Vacterl/Vater Association	Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Tracheoesophageal fistula, C...	ORPHA:887
Feingold Syndrome	Hallux valgus, Brachydactyly, Toe syndactyly, Micrognathia, External ear malformation, Esophageal...	ORPHA:1305
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Recurrent ...	ORPHA:667
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cleft palate, Death in childh...	OMIM:214110
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai...	ORPHA:2010
Microphthalmia, Syndromic 1	Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial...	OMIM:309800
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, ...	ORPHA:99931
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Hiatus hernia, Recurrent upper respiratory tract i...	OMIM:619769
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Prominent metopic r...	OMIM:610443
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Abnormal...	ORPHA:70588
Down Syndrome	Short neck, Downturned corners of mouth, Conductive hearing impairment, Clinodactyly of the 5th f...	ORPHA:870
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea...	OMIM:602588
Monosomy 22	Low-set, posteriorly rotated ears, Finger syndactyly, Single transverse palmar crease, Short neck...	ORPHA:96123
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Malabsorption, Micrognathia, Protruding tongue, Bronchiectasis, Macroglossi...	OMIM:242860
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Tapered finger, Heart murmur, Atrichia, Sh...	ORPHA:1867
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Hearing impairment, Recurrent upper r...	ORPHA:508542
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Mandibular prognathia, Abnormal foot morphology, Synophrys, Thick lower lip vermilion, Cutaneous ...	OMIM:210745
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Hearing impairment, Flexion contracture...	ORPHA:90322
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Craniosynostosis, Micrognathia, Sparse...	OMIM:250410
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Tongue atrophy, Areflexia of lower limbs, Talipes equinovarus	OMIM:616155
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Hypospadias, Thick lower lip vermilion, Submucous cleft hard palate, Horse...	OMIM:619103
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Osteopenia, Sparse scalp hair, Death in infancy, Prox...	OMIM:615789
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ureteral duplication, Micrognathia, Cleft palate, Spinal dysra...	ORPHA:1926
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Edema of...	OMIM:601803
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Pallister-Hall Syndrome	Abnormal lung lobation, Hemivertebrae, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Rad...	ORPHA:672
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Thick eyebrow, Arachnodactyly, Micrognathia, Sensorineural hearing ...	OMIM:618971
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Sparse scalp hair, Non-midline cleft lip, Hip dislocation, Absent nasal septal cartilage, Bilater...	ORPHA:2003
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Tapered finger, Ankle flexion contracture, Short toe, Ren...	ORPHA:464311
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Brachydactyly, Multiple joint contractures, Hypospadias, Selective tooth agenesis, Al...	ORPHA:2959
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
7Q11.23 Microduplication Syndrome	Pes planus, Thin upper lip vermilion, Hypospadias, Single transverse palmar crease, Unilateral re...	ORPHA:96121
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Cronkhite-Canada Syndrome	Intestinal polyposis, Alopecia, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamar...	ORPHA:2930
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Lat...	OMIM:300166
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ...	ORPHA:280
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Sever...	OMIM:620186
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyly, Talipes equi...	OMIM:217100
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Prominen...	OMIM:615873
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Recurrent respiratory infections, Intestinal obstruction, Hypo...	ORPHA:2323
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Down-sloping shoulders, Stridor, Pr...	OMIM:606071
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Low anterior hairline, D...	ORPHA:955
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, Ectopic kidney, High, narrow palate, Short neck, A...	ORPHA:96149
Kilquist Syndrome	Mandibular prognathia, Intestinal malrotation, Coxa valga, Midgut malrotation, Xerostomia, 2-3 to...	OMIM:619080
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus, Abnormal renal physiology, Sensorineural hearing impairment	OMIM:266500
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, D-2-hydroxyglutaric aciduria, Meta...	ORPHA:99646
Serkal Syndrome	Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Orofacial cleft, Pulmonary hy...	ORPHA:139466
Distal Duplication 5Q	Hypoplasia of the ulna, Hypospadias, Micrognathia, Absent thumb, Carious teeth, Hypoplasia of the...	ORPHA:96097
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Posteriorly rotated ears, Hypospadias, Short hallux,...	ORPHA:3224
Cardiofaciocutaneous Syndrome	Brittle hair, Short neck, High palate, Sparse hair, Thickened helices, Dystrophic fingernails, Lo...	ORPHA:1340
Hartnup Disorder	Glossitis, Neutral hyperaminoaciduria	OMIM:234500
Mucopolysaccharidosis Type 3	Synophrys, Flexion contracture, Reduced bone mineral density, Coarse hair, Aspiration pneumonia, ...	ORPHA:581
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo...	OMIM:608836
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Anencephaly 2	Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglotti...	OMIM:615948
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h...	ORPHA:94089
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Abnorma...	ORPHA:1812
Naegeli-Franceschetti-Jadassohn Syndrome	Decreased number of sweat glands, Abnormal dental morphology, Interphalangeal joint contracture o...	ORPHA:69087
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa...	ORPHA:563
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Hypospadias, Micrognathia, Lower l...	ORPHA:96182
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Protruding ear, Downturned corners of mouth, Widely spaced t...	OMIM:156200
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Short philtrum, Abnor...	ORPHA:247768
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Pes planus, Dental crowding, Intestinal malrotation, Arachnodactyl...	OMIM:617602
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Tongue atrophy, Sensorineural hearing impairment, Calf muscle hypertrophy, Shou...	OMIM:158900
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulde...	OMIM:109400
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Primary amenorrhea, Se...	OMIM:615300
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Sparse scalp hair, Alopecia, Dental crowding, Down-sloping shoulders, Coxa valga, Mic...	OMIM:248370
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Adducted thumb	OMIM:619334
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Thin upper lip vermilion, Sandal gap, Sparse eyelashes, High, narr...	OMIM:612863
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs, L...	ORPHA:2204
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo...	OMIM:620326
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner...	ORPHA:352665
Luscan-Lumish Syndrome	Irregular menstruation, Polycystic ovaries	OMIM:616831
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Renal cyst, Cleft palate, ...	OMIM:611561
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, M...	ORPHA:2975
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen...	OMIM:301040
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Diamond-Blackfan Anemia	Hypospadias, Cleft soft palate, Absent thumb, Micrognathia, Cleft lip, Short thumb, Partial dupli...	ORPHA:124
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Camptodactyly of finger, Unilateral renal agenesis, Micrognathia, Tapered finger,...	ORPHA:261337
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Sparse eyelashes, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, C...	OMIM:300946
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo...	OMIM:612387
2Q37 Microdeletion Syndrome	Short neck, Downturned corners of mouth, Short palm, Conductive hearing impairment, Clinodactyly ...	ORPHA:1001
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Supernume...	OMIM:617088
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Nephronophthisis 2	Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary hypoplasia, Pulmonary ins...	OMIM:602088
Renal Tubular Dysgenesis	Hypotension, Pulmonary hypoplasia, Respiratory insufficiency, Widely patent fontanelles and sutures	OMIM:267430
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ...	OMIM:119500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy...	ORPHA:2463
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Short neck, Cleft lip, Deep philtrum, Cleft palate, Protrudin...	OMIM:618571
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact...	ORPHA:380
Carey-Fineman-Ziter Syndrome 1	Tapered finger, Micrognathia, Trismus, Sensorineural hearing impairment, Pierre-Robin sequence, F...	OMIM:254940
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Spina bifida, Short neck, Cleft palate, Low posterior hairline, ...	ORPHA:2345
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Sinusitis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack...	ORPHA:183
White Forelock With Malformations	Low-set, posteriorly rotated ears, Finger syndactyly, Deep philtrum, Joint hyperflexibility, Whit...	ORPHA:2475
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal s...	ORPHA:2363
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Familial Visceral Myopathy	Low-set, posteriorly rotated ears, Hydroureter, Arachnodactyly, Aganglionic megacolon, Camptodact...	ORPHA:2604
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Split hand, Apnea, Respiratory failure	ORPHA:168486
Skin Creases, Congenital Symmetric Circumferential, 1	Posteriorly rotated ears, Micrognathia, Short neck, Long fingers, Narrow mouth, Cleft palate, Hig...	OMIM:156610
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Sparse scalp hair, Hypospadias...	ORPHA:1465
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Koolen-De Vries Syndrome	Ureteral duplication, High, narrow palate, Protruding ear, Vesicoureteral reflux, Microdontia, Ve...	ORPHA:96169
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu...	ORPHA:2752
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Abnormal hair whorl, Hip dysplasi...	ORPHA:457284
Prolidase Deficiency	Recurrent respiratory infections, Arachnodactyly, Micrognathia, Carious teeth, Erythema, Low ante...	ORPHA:742
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Sparse ...	ORPHA:2834
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, Abnormal lung lobation, Finger clinoda...	ORPHA:99776
Charcot-Marie-Tooth Disease, Type 4C	Prolonged brainstem auditory evoked potentials, Tongue atrophy, Hammertoe, Talipes equinovarus, T...	OMIM:601596
Opitz Gbbb Syndrome	Smooth philtrum, Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, Wide anterior ...	OMIM:300000
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulmona...	OMIM:611812
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Loeys-Dietz Syndrome 4	Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, High, narrow pal...	OMIM:614816
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Dysmenorrhea, Irregular menstruation, Polycystic ovaries, Renal tubular acidosis, Oligomenorrhea,...	ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Irregular menstruation, Esophageal varix, Polycystic ovaries, Renal tubular acidosi...	ORPHA:264580
Alg1-Cdg	Kyphosis, Cardiomyopathy, Respiratory failure, Protein-losing enteropathy, Scoliosis	ORPHA:79327
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Ulnar deviation of...	OMIM:122880
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Hepatic Veno-Occlusive Disease	Respiratory failure, Jaundice	ORPHA:890
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Femoral bowing, Hypertrophic cardiomyopathy, Stillbirth, Pulmonary hypopl...	OMIM:615415
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Cleft palate, Micropenis, Hypoplasia of t...	OMIM:151100
Cystic Echinococcosis	Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, Hepatic cysts	ORPHA:400
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder dislocation, High palate,...	ORPHA:536532
Craniofrontonasal Syndrome	Curly hair, Toe syndactyly, Broad hallux, Down-sloping shoulders, Unilateral breast hypoplasia, C...	OMIM:304110
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Anal stenosis, Sinusitis, Sandal gap, Recurrent bronchitis, Malar pr...	OMIM:251260
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Torticollis, Posteriorly rotated ears, Tapered finger, Submucous cleft ...	OMIM:619680
Primrose Syndrome	Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion contracture, Downturned c...	OMIM:259050
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Tracheomalacia, Micrognathia, Metatarsus adductus, Absent cupid's bo...	ORPHA:513456
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Large earlobe, Polydactyly, Smooth philtrum	OMIM:602501
Ovarian Hyperstimulation Syndrome	Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ...	ORPHA:64739
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula	OMIM:155145
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Myocardial infarcti...	ORPHA:740
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Abnormality of the kidney, Proteinuria, Renal agenesis, Aganglionic megacolon, Ch...	ORPHA:261222
Chromosome 19Q13.11 Deletion Syndrome, Distal	Overlapping toe, Hypospadias, Sparse eyelashes, Micrognathia, Carious teeth, Sparse eyebrow, Macr...	OMIM:613026
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Neurogenic bladder, Protruding tongue, Micrognathia, Short neck, Sensorineural ...	OMIM:608779
Schisis Association	Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia	ORPHA:63862
Fetal Hydantoin Syndrome	Low-set, posteriorly rotated ears, Thickened nuchal skin fold, Abnormal pinna morphology, Hearing...	ORPHA:1912
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Hypoplasia of the radius, Abnormal renal morphology, Renal hypoplasia,...	OMIM:609053
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency	OMIM:601612
Fanconi Anemia, Complementation Group P	Micrognathia, Absent thumb, Short thumb, Hypoplasia of the radius, Horseshoe kidney, Pelvic kidney	OMIM:613951
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Hypospadias, Camptodactyly of finger, Unilateral renal ...	ORPHA:468631
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis, Exertional dyspnea	ORPHA:621
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Cleft upper lip	OMIM:609654
Meckel Syndrome 12	Rocker bottom foot, Ureteral hypoplasia, Micrognathia, Renal hypoplasia, Low-set ears, Arthrogryp...	OMIM:616258
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Lacrimoauriculodentodigital Syndrome 2	Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Cupped ear...	OMIM:620192
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Blepharocheilodontic Syndrome 2	Conical tooth, Cleft lip, Cutaneous syndactyly, Tooth agenesis, Distichiasis	OMIM:617681
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Partial duplication of thumb phalanx, Cupped ear, Xerostomia, Absent ...	OMIM:620193
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Tapered finger, Flexion contracture, Alveolar ...	OMIM:301072
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Spa...	ORPHA:496641
Aase-Smith Syndrome I	Death in infancy, Abnormal pinna morphology, Flexion contracture, Cleft palate, Talipes equinovar...	OMIM:147800
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Synophrys, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Branchio-Oculo-Facial Syndrome	Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Premature grayi...	ORPHA:1297
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Hypophosphatasia, Adult	Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Recurrent fract...	OMIM:146300
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo...	OMIM:620296
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Renal cys...	OMIM:113620
Cerebellofaciodental Syndrome	Pes planus, Single transverse palmar crease, Tapered finger, Short neck, Sparse eyebrow, Dental m...	OMIM:616202
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Abnormal palmar dermatoglyphics, Cleft palate, Hypoplasia of teeth, Microtia, Widely...	ORPHA:2728
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Nijmegen Breakage Syndrome	Abnormal hair quantity, Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory ...	ORPHA:647
20P13 Microdeletion Syndrome	Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Posteriorly rotated ears...	ORPHA:313781
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Osteoporosis, Cleft palate, Micropenis, Clinodactyly	OMIM:614838
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Carious teeth, Irregular menstruation, Stage 5 chronic kidney disease, Nephrolithias...	ORPHA:79259
Meier-Gorlin Syndrome 6	Microretrognathia, Recurrent respiratory infections, Sandal gap, Posteriorly rotated ears, Trache...	OMIM:616835
Acromelic Frontonasal Dysplasia	Median cleft lip, Upper airway obstruction, Patellar hypoplasia, Wide mouth, Talipes equinovarus,...	ORPHA:1827
Hydrolethalus Syndrome 1	Median cleft lip, Hypospadias, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:236680
9Q21.13 Microdeletion Syndrome	Talipes, Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Hip dysplasia...	ORPHA:531151
Orofaciodigital Syndrome Type 14	Microretrognathia, Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Acce...	ORPHA:434179
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Sparse hair, Microre...	OMIM:278250
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Intestinal malrot...	ORPHA:457193
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Short neck, Low anterior hairline, Coxa vara, High palate, Wrist flexio...	ORPHA:800
Pyruvate Dehydrogenase E1-Alpha Deficiency	Long philtrum, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Pes planus, Sparse scalp hair, Micrognathia, 2-3 toe cut...	OMIM:620029
Diprosopus	Non-midline cleft lip, Cleft palate	ORPHA:1681
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Single transverse palmar crease, Posteriorly rotated ears, Protruding tongue, Su...	OMIM:618106
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Carious teeth, Downturned corners of mo...	ORPHA:1110
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Recurrent patellar di...	OMIM:619143
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal ma...	ORPHA:2166
Cranioectodermal Dysplasia 2	Micrognathia, Short neck, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Microdontia,...	OMIM:613610
Musculocontractural Ehlers-Danlos Syndrome	Decreased palmar creases, Generalized joint laxity, Functional abnormality of the bladder, Protru...	ORPHA:2953
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Wide anterior fontanel, Jaundice, Pulmonary hypoplasia, Neonatal death	OMIM:231680
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Thoracic scoliosis, Bilateral cleft lip	OMIM:616994
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Treacher Collins Syndrome 1	Sparse lower eyelashes, Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Preauricular h...	OMIM:154500
Ring Chromosome 12 Syndrome	Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Glandular hypospadias, Dystrophi...	ORPHA:1439
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Triangular shaped distal phalanges of the hand, Generalized b...	ORPHA:73230
Gapo Syndrome	Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, Thick lower lip ve...	OMIM:230740
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail	OMIM:601319
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Abnormal dental morphology, Abnormal dental enamel morphology, Aplastic clavicle,...	ORPHA:85199
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c...	OMIM:620311
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency	ORPHA:3346
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica...	OMIM:204690
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Isolated Childhood Apraxia Of Speech	High, narrow palate, Overfolded helix, Submucous cleft hard palate, Horizontal eyebrow	ORPHA:209908
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Cyanosis, Crackles, Righ...	ORPHA:1329
Icf Syndrome	Recurrent respiratory infections, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, L...	ORPHA:2268
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Opitz Gbbb Syndrome	Micrognathia, High palate, Vesicoureteral reflux, Recurrent aspiration pneumonia, Hypospadias, Cl...	ORPHA:2745
Hypophosphatasia	Bowing of the long bones, Craniosynostosis, Abnormality of the dentition, Respiratory insufficien...	ORPHA:436
Partial Androgen Insensitivity Syndrome	Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ...	ORPHA:90797
Summitt Syndrome	Syndactyly, Craniosynostosis	OMIM:272350
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Cleft upper lip, Synophrys, Hemivertebrae, Cleft palate, Low posterior hai...	ORPHA:1394
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Recurrent urinary tract infections, Hypospadias, Cleft soft palate, Unilateral ren...	ORPHA:268261
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Highly arched eyebrow, P...	OMIM:617062
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu...	ORPHA:65759
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Sho...	ORPHA:373
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Cleft lip, Cleft palate, Protruding ear, Camptodactyly, Clinodactyly of the 5th fin...	OMIM:619123
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete...	ORPHA:2911
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Postaxial polydactyly, Highl...	OMIM:614424
X-Linked Agammaglobulinemia	Alopecia, Sinusitis, Osteomyelitis, Malabsorption, Abnormal lung morphology, Recurrent pneumonia,...	ORPHA:47
Xylt1-Cdg	Joint laxity, Pes planus, Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Short long bone...	ORPHA:370930
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Asymmetry of the ears, Highly arched eyebrow, Sparse...	OMIM:619124
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Cyanosis, Short lingual frenulum, Midgut malrotation, Congestive heart fail...	ORPHA:2326
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal fingertip morphology, Abnormality of the ...	ORPHA:90154
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia...	ORPHA:3047
Skin Creases, Congenital Symmetric Circumferential, 2	Uplifted earlobe, Micrognathia, Short neck, Synophrys, Low anterior hairline, Ureterocele, Short ...	OMIM:616734
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Multicystic kidney dysplasia, Alopecia, Hypospadias, Renal agenesis, Unilateral r...	OMIM:308205
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Protruding ear, Reduced bone mineral density, High palate, ...	ORPHA:93315
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Clef...	ORPHA:261236
Fraser Syndrome 3	Hypoplasia of penis, Micrognathia, Short toe, Abnormal lung lobation, Cutaneous syndactyly, Urete...	OMIM:617667
Tibial Muscular Dystrophy	Cardiomyopathy, Distal upper limb muscle weakness, Weakness of long finger extensor muscles, Resp...	ORPHA:609
Holoprosencephaly	Brachydactyly, Median cleft lip, Bilateral cleft lip, Highly arched eyebrow, Synophrys, Deep phil...	ORPHA:2162
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Wide anterior fontanel	OMIM:618240
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Hypospadias, Lower limb asymmetry, Micrognathia, External ear ...	ORPHA:2505
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Small earlobe, Severe periodontitis, Overlapping toe, Protruding tongue, C...	ORPHA:99843
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Abnormality of the ear, 2-3 toe syndactyly, Open mouth, 3-4 finger syndactyly	OMIM:600906
Pai Syndrome	Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology	ORPHA:1993
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Mixed hearing impairment, Down-sloping shoulders, Tapered fi...	OMIM:615560
Desmosterolosis	Rhizomelia, Posteriorly rotated ears, Micrognathia, Generalized osteosclerosis, Cupped ear, Gingi...	OMIM:602398
Barber-Say Syndrome	Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Sparse or absent eyelashes, Bre...	ORPHA:1231
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Posteriorly rotated ears, Rocker bottom foot, Hearing impairment, Taper...	OMIM:601353
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Sensorineural hearing impairment, Cleft palate, Radioulnar synostosis, Short middle phalanx of th...	OMIM:616738
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Diamond-Blackfan Anemia 1	Tricuspid stenosis, Absent thumb, Micrognathia, Short thumb, Partial duplication of thumb phalanx...	OMIM:105650
Keutel Syndrome	Peripheral pulmonary artery stenosis, Calcification of the auricular cartilage, Sinusitis, Miscar...	OMIM:245150
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Osteopenia, Sinusitis, Osteomyelitis, Pneumonia, Hearing impairment, C...	ORPHA:811
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Intraventricular hemorrhag...	ORPHA:420741
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Sparse scalp hair, Hypospadias, Aganglionic megacolon, Sparse eyebrow, Cleft p...	ORPHA:66629
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Prominence of the premaxilla, Arachnodactyly, Abnormal pinna morphol...	OMIM:614437
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Narrow mouth, Mandibular aplasia, Microgl...	ORPHA:990
Prader-Willi Syndrome	Osteopenia, Thin upper lip vermilion, Syndactyly, Recurrent respiratory infections, Hypopigmentat...	OMIM:176270
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Inspiratory stridor...	OMIM:604320
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi...	ORPHA:93929
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia, Coxa vara, ...	OMIM:602557
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Hearing impairment, Micrognathia, Cu...	ORPHA:264200
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper l...	ORPHA:50
Flat Face-Microstomia-Ear Anomaly Syndrome	Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Sparse eyebrow, High, narrow palate...	ORPHA:1968
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Abnormal foot morphology, Flexion contracture, Hip dislocation, Tongue fasciculat...	OMIM:614678
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left...	ORPHA:542323
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ...	ORPHA:454840
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Bloom Syndrome	Sparse eyelashes, Pneumonia, Bronchitis, Micrognathia, Esophageal neoplasm, Respiratory tract inf...	ORPHA:125
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Cleft lip, Clinodacty...	ORPHA:1724
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Abnormality of the hand, Hearing impairment, Carious teeth, Ab...	ORPHA:3194
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Short palm, Clinodacty...	ORPHA:3210
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Short neck, Curly eyelashes, O...	ORPHA:1517
Odontoonychodermal Dysplasia	Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Short nail, Sparse eyebrow, Abnormality of p...	OMIM:257980
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Laryngeal stenosis, Alopecia, Erosion of oral mucosa, Pneumonia, Abnormal f...	ORPHA:79404
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation,...	ORPHA:980
Vici Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Median cleft lip, Everted upper lip v...	OMIM:242840
Maternal Uniparental Disomy Of Chromosome 6	Slender long bone, Miscarriage, Cleft palate, Cleft upper lip	ORPHA:96181
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Atelectasis, ...	ORPHA:2357
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Otitis media, Conductive hearing impairment, Vesicoureteral reflux, Joint laxity...	ORPHA:353281
Bencze Syndrome	Open bite, Submucous cleft hard palate, Extension of hair growth on temples to lateral eyebrow	ORPHA:1241
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Cleft upper lip, Abnormality of the dentition, Ectodermal dysplasia, Hypoplastic nipples, Sparse ...	OMIM:273400
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Abnormal lung lobation, Vertebral segmentation defect, Narrow greater scia...	OMIM:312870
Feingold Syndrome Type 1	Renal insufficiency, Toe syndactyly, Jejunal atresia, Micrognathia, Short middle phalanx of the 2...	ORPHA:391641
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Multicystic kidney dysplasia, Abnormally ossified ver...	ORPHA:1318
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Joint laxity, Tapered finger, Low-set ears, Pes cavus, Smooth philtrum, Hypertrichos...	OMIM:300968
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur...	ORPHA:439
Muscular Dystrophy, Duchenne Type	Hypoventilation, Abnormal EKG, Hyperlordosis, Respiratory insufficiency due to muscle weakness, C...	OMIM:310200
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Everted upper lip vermilion, Brittle hair, Absent nipple, Abnormal oral mucosa mo...	OMIM:305100
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Low...	OMIM:613458
Oslam Syndrome	Carious teeth, Radioulnar synostosis, Clinodactyly of the 5th finger	ORPHA:2760
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Pes planus, Curly eyelashes, Micrognathia, Cleft lip, Sensorineural hea...	OMIM:301022
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal...	ORPHA:3186
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Respiratory tract infection, Raynaud phenomenon, Dyspnea, Whe...	ORPHA:79128
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Finger syndactyly, Hypospadias, Camptodactyly of finger, Short...	ORPHA:2311
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Talipes equinovarus	OMIM:150260
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Renal agenesis, Ectopic kidney, Hy...	ORPHA:140952
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Pes planus, Posteriorly rotated ears, Hypospadias, Micrognathia, Hypopl...	OMIM:300712
Cerebrooculonasal Syndrome	Encephalocele, Posteriorly rotated ears, Sparse eyelashes, Postaxial polydactyly, Craniosynostosi...	OMIM:605627
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Alopecia, Abnormal pelvis bone morphology, Aganglionic megacolo...	ORPHA:2273
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Talipes, Craniosynostosis, Increased nuchal translucency, Cleft palate, Furrowed tong...	ORPHA:453499
Monosomy 9P	Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Anotia, High palate, Bilateral ...	ORPHA:261112
Distal Deletion 3P	Low-set, posteriorly rotated ears, Micrognathia, Short neck, Postaxial hand polydactyly, Cleft pa...	ORPHA:1620
Bresek Syndrome	Alopecia, Aganglionic megacolon, Postaxial hand polydactyly, Renal hypoplasia, Cleft palate, Prot...	ORPHA:85284
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Short clavi...	ORPHA:60015
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate	ORPHA:2165
Prader-Willi Syndrome Due To Translocation	Micrognathia, Short neck, Downturned corners of mouth, High palate, Clinodactyly of the 5th finge...	ORPHA:177907
Histidinuria Due To A Renal Tubular Defect	Smooth philtrum, Thin upper lip vermilion, Impaired histidine renal tubular absorption, Histidinu...	OMIM:235830
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Kyphosis, Dilated cardiomyopathy, Resp...	ORPHA:352447
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Ankle clonus, Proximal muscle weakness in upper limbs, Respiratory failure	OMIM:613954
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Hypopigmentation of hair, Respiratory failure	ORPHA:70472
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Dilated cardiomyopathy, Micrognathia	OMIM:607598
C Syndrome	Micromelia, Micrognathia, Short neck, High palate, Clinodactyly of the 5th finger, Bilateral sing...	ORPHA:1308
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea	OMIM:618841
Down Syndrome	Redundant neck skin, Single transverse palmar crease, Short palm, Conductive hearing impairment, ...	OMIM:190685
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure	OMIM:619386
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Micrognathia, Proximal upper limb muscle hypertrophy, Osteolytic defects of the phalanges of the ...	ORPHA:280365
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Renal hypoplasia, Mic...	OMIM:603467
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Downturned corners of mouth, Small earlobe, Genu v...	OMIM:264090
Charge Syndrome	Abnormal tibia morphology, Hypoplasia of the semicircular canal, Abnormality of bone mineral dens...	ORPHA:138
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam...	ORPHA:1031
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:619503
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Hiatus hernia, Cleft ...	OMIM:304050
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Synophrys, Low anterior hairline, Downturned corners of mouth, Widely spaced tee...	OMIM:301044
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Ectopic kidney, Synophrys, High palate, Short philtrum, T...	ORPHA:3063
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Cupped ear, Cleft palate...	ORPHA:52055
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric...	ORPHA:444013
Ring Chromosome 22 Syndrome	Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border, Pleural effusion, Mac...	ORPHA:1446
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth,...	ORPHA:500150
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Hearing impairment, Short philtrum, Cleft palate, Micrognathia	OMIM:619074
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broa...	OMIM:619472
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the wrists, Dela...	OMIM:600081
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest...	ORPHA:185
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Abnormality of the...	ORPHA:1556
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineural hea...	ORPHA:261197
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Low posterior hairline, Genu valgum, Hypoplasia of the zygomatic bone, Cub...	ORPHA:1778
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Tongue fasciculations, Congenital laryngeal stridor	ORPHA:2254
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
H Syndrome	Hallux valgus, Abnormal eyebrow morphology, Alopecia, Malabsorption, Cleft upper lip, Recurrent p...	ORPHA:168569
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Renal insufficiency, B...	ORPHA:2377
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie...	OMIM:614299
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Hartsfield Syndrome	Syndactyly, Median cleft lip, Posteriorly rotated ears, Hypospadias, Craniosynostosis, Cleft uppe...	OMIM:615465
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Adams-Oliver Syndrome 1	Alopecia, Toe syndactyly, Cutis marmorata, Supernumerary nipple, Cleft upper lip, Pulmonary arter...	OMIM:100300
46,Xy Sex Reversal 4	Distal symphalangism, Micrognathia, Sensorineural hearing impairment, Cleft palate, Microtia, Hig...	OMIM:154230
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezi...	OMIM:620233
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Thick hair, Delayed closure of the anterior fontanelle, Subretinal pi...	ORPHA:357074
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delaye...	OMIM:241530
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Broad neck, Lop ear, Short neck, Sensorineural hearing impairment, Recu...	OMIM:300472
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Palmoplantar cutis gyrata, Hearing abnormality, Aplasia/Hypoplasia of the earlo...	ORPHA:1555
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Alopecia, Malabsorption, Nephrocalcinosis, Tympanosclerosis, Nail dystrophy, ...	OMIM:240300
Cdags Syndrome	Sparse scalp hair, Hypospadias, Sparse eyelashes, Sagittal craniosynostosis, Rectourethral fistul...	OMIM:603116
Kbg Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Short neck, Epispadias, Synophrys, L...	OMIM:148050
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Proximal upper limb muscle hypertrophy, Right bundle branch block, Pulmonary fibrosi...	ORPHA:254361
Duplication Of The Pituitary Gland	Encephalocele, Abnormality of joint mobility, Short neck, Supernumerary tooth, Abnormality of the...	ORPHA:314621
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney	ORPHA:276280
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Transient ischemic attack, Hyperlordosis, Respiratory tract infe...	ORPHA:365
Costello Syndrome	Hyperextensibility of the finger joints, Curly hair, Limited elbow movement, Micrognathia, Pylori...	OMIM:218040
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou...	OMIM:236700
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Renal insufficiency, Foot joint contr...	ORPHA:90321
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density, Spinal dysraphism	ORPHA:1114
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li...	ORPHA:93311
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Genu recurvatum, Synophrys, Downturned cor...	OMIM:619539
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Platyspondyly, ...	ORPHA:93274
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Prolonged bleeding time, Intracranial hemorrhage, Respiratory f...	ORPHA:3226
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of ...	OMIM:136140
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Cariou...	ORPHA:158668
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Sensorineural hearing impairment, Vesicoureteral reflux, Sh...	ORPHA:250989
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Nephrolithiasis, Gingival overgrowth, Gingivitis, Periodontitis, Abno...	ORPHA:722
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Micrognathia, Bilateral renal hypoplasia, Preaxial polyd...	OMIM:243605
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hearing abnormality, Meningocele...	ORPHA:2031
Microphthalmia, Syndromic 6	Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Cli...	OMIM:607932
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Vesicour...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Vesicour...	ORPHA:353277
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertension, Respiratory failure, Generalized hirsutism	ORPHA:363400
Developmental And Epileptic Encephalopathy 100	Recurrent respiratory infections, Tented upper lip vermilion, Single transverse palmar crease, Pr...	OMIM:619777
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Micrognathia, Abnormality of the elbow, Small hand, Cleft palate, Downturn...	ORPHA:85276
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Talipes, Hearing impairment, Aplasia/Hyp...	ORPHA:1647
3Mc Syndrome 3	Highly arched eyebrow, Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis...	OMIM:248340
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Abnormal lung mor...	ORPHA:141127
X Small Rings	Joint laxity, Thin upper lip vermilion, Toe syndactyly, Tapered finger, Short neck, Osteoporosis,...	ORPHA:96201
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Ma...	ORPHA:2785
Lipoid Proteinosis	Recurrent respiratory infections, Abnormal oral mucosa morphology, Abnormality of the gingiva, Th...	ORPHA:530
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Left-to-right shunt, Cyanosis, Congestive heart failure, Left v...	ORPHA:99050
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Hearing impairment, Brachydactyly	OMIM:610023
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth	ORPHA:98795
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Low anter...	OMIM:614976
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Respiratory...	OMIM:607625
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Non-midline cleft lip, Lip pit, Cleft palate	ORPHA:1072
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Cleft palate, Abnormality of the pulmonary vasculature, Arrhythmia, Distichiasis	ORPHA:33001
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Micrognathia, Pierre-Robin sequence, Elbow flexion contracture...	OMIM:300868
Chromosome 1P36 Deletion Syndrome, Proximal	Broad eyebrow, Posteriorly rotated ears, Micrognathia, Cleft lip, Partial anomalous pulmonary ven...	OMIM:619343
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Respiratory failure, Shoulder girdle muscle weakness, N...	OMIM:603689
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Short neck, Deep phil...	ORPHA:251038
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Talipes, Micrognathia, Cleft palate, Hydranencephaly, Joint contracture, Cystic hygroma	OMIM:225790
Isotretinoin Embryopathy-Like Syndrome	Anotia, Microtia, Cleft palate, Micrognathia	OMIM:243440
Myopathy, Myofibrillar, 7	Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,...	OMIM:617114
Thoracoabdominal Syndrome	Hypospadias, Cleft upper lip, Anencephaly, Cleft palate, Pulmonary hypoplasia, Cystic hygroma	OMIM:313850
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Osteopenia, Single transverse palmar crease, Micrognath...	OMIM:150230
Infantile Systemic Hyalinosis	Abnormal dental morphology, Malabsorption, Gingival overgrowth, Polycystic ovaries, Steatorrhea	ORPHA:2176
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Tachypnea, Left ventricular outfl...	ORPHA:860
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Flare...	OMIM:615349
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Abnormal dental enamel morphology, Premature loss of prima...	ORPHA:2908
Mend Syndrome	Thickened nuchal skin fold, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, A...	ORPHA:401973
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Congenital hip dislocation, Renal...	ORPHA:2970
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Cleft hard palate...	ORPHA:261537
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Low anterior hairline, Protruding ear, High palate, Simple ear, Joint la...	OMIM:619325
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Cardiomyopathy, Respiratory failure, Stillbirth, Tongue fasciculations, Death i...	OMIM:614922
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent ...	ORPHA:2250
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hypertrichosis	OMIM:256000
Distal Deletion 9P	Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the dentition, Short neck, High, n...	ORPHA:1642
Carney Complex	Neoplasm of the stomach, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnormal sperm motili...	ORPHA:1359
Neurocardiofaciodigital Syndrome	Syndactyly, Sparse eyebrow, Thin vermilion border, High palate, Polydactyly, Sparse hair, Vesicou...	OMIM:619869
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Orofacial c...	OMIM:194190
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Absent pulmonary artery, Split hand, Clubbing, Cleft palate, Death in childhood	OMIM:600460
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Underdeveloped antitragus, Abnormality of the de...	ORPHA:2036
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega...	OMIM:614749
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Prot...	OMIM:175500
Developmental Delay With Or Without Dysmorphic Facies And Autism	Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Short philtrum, Microphallus, Vesicourete...	OMIM:618454
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa...	ORPHA:2473
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Prolonged QRS complex, Left axis deviation, Congestive hea...	OMIM:261740
Osteopetrosis, Autosomal Recessive 5	Micrognathia, Flared metaphysis, Gingival overgrowth, Respiratory failure, Stillbirth, Long philt...	OMIM:259720
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone...	OMIM:133540
Walker-Warburg Syndrome	Hypoplasia of penis, Posteriorly rotated ears, Submucous cleft hard palate, Cleft palate, Protrud...	ORPHA:899
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Broad eyebrow, Posteriorly rotated ears, Abnormal pinna morphology, Hypospadias, Micr...	OMIM:616975
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Hyperlordosis, Dyspnea, Congestive heart failure, Wide anterior fontanel, Cardi...	ORPHA:26791
Meckel Syndrome	Low-set, posteriorly rotated ears, Ureteral duplication, Bowing of the long bones, Multicystic ki...	ORPHA:564
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Arachnodactyly, Hip dislocation	OMIM:614100
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High...	OMIM:220110
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Cutis Laxa-Marfanoid Syndrome	Emphysema, Arachnodactyly, Hip dislocation	ORPHA:171719
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Synophrys, Thick lower lip vermilion, Flared metaphysis, Advanced ossification of carpal bones, F...	OMIM:610442
Holoprosencephaly 4	Median cleft lip, Absent nasal septal cartilage, Median cleft lip and palate	OMIM:142946
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi...	OMIM:613717
Trisomy 18	Microretrognathia, Camptodactyly of finger, Esophageal atresia, Postaxial hand polydactyly, Non-m...	ORPHA:3380
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Syno...	OMIM:610828
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, ...	OMIM:607361
Pigmented Nodular Adrenocortical Disease, Primary, 2	Ovarian cyst	OMIM:610475
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy...	ORPHA:1553
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph...	OMIM:619127
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Short neck, Talipes calcaneovalgus, Widely-spaced maxil...	OMIM:309580
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Alopecia, Tracheoesophageal fistula, Gingival overgrowth, Furro...	ORPHA:1839
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed...	OMIM:202400
Menke-Hennekam Syndrome 1	Short ear, Micrognathia, Deep philtrum, Flexion contracture, Protruding ear, Cutaneous syndactyly...	OMIM:618332
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Renal agenesis, Cryptorchidism, ...	ORPHA:478
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, Hearing impairment, Hi...	OMIM:209900
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth	ORPHA:411511
Toluene Embryopathy	Micrognathia, Tapered finger, Thin vermilion border, Hypoplasia of the zygomatic bone, Smooth phi...	ORPHA:1920
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Synophrys, Short philtrum, Joint contracture of the ...	ORPHA:363611
Lead Poisoning	Delayed eruption of teeth, Miscarriage, Chronic kidney disease, Cranial hyperostosis, Renal tubul...	ORPHA:330015
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Diamond-Blackfan Anemia 10	Posteriorly rotated ears, Micrognathia, Ectopic kidney, Cleft palate, Microtia, Atresia of the ex...	OMIM:613309
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Pes planus, Joint laxity, Dental crowding, High, narrow palate, Wide mouth, Widely...	OMIM:300967
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Synophrys, Wide penis, Abnormality of the ear, Downturned corners of mouth, Hypoplast...	ORPHA:3455
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Intrinsic hand muscle atrophy, Tongu...	OMIM:620285
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Pes planus, Mixed hearing impairment, Osteopenia...	OMIM:614557
Renpenning Syndrome 1	Mandibular prognathia, Brittle hair, Micrognathia, Narrow foot, Protruding ear, High palate, Shor...	OMIM:309500
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Posteriorly rotated ears, Tapered finger, Cleft lip, Synophrys, Hip dislocation, Clef...	OMIM:301066
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,...	OMIM:618019
Degcags Syndrome	Osteopenia, Micrognathia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature...	OMIM:619488
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Pes cavus, Dental crowding, Broad hallux, Sandal gap, Hearing impairmen...	OMIM:616078
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Junct...	ORPHA:137675
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Arachnodactyly, Pulmonic stenosis,...	ORPHA:284984
Arboleda-Tham Syndrome	Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Short philtrum, Chronic otit...	OMIM:616268
Gracile Bone Dysplasia	Death in infancy, Flared metaphysis, Slender long bone, Micropenis, Decreased skull ossification,...	OMIM:602361
Proteus-Like Syndrome	Open bite, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital muscular torticollis, Congenital hip dislocation, Supernumer...	ORPHA:457279
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Abnormal pinna morphology, Short neck, Small hand, Spina bifida occult...	ORPHA:488434
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Poems Syndrome	Metaphyseal sclerosis, Respiratory insufficiency due to muscle weakness, Leukonychia, Acrocyanosi...	ORPHA:2905
Fanconi Anemia	Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t...	ORPHA:84
Pseudotrisomy 13 Syndrome	Cleft upper lip, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe syndactyly, Postaxial foot po...	OMIM:264480
Digeorge Syndrome	Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, High, narrow palate, Cleft ...	OMIM:188400
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl...	ORPHA:785
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Sparse eyelashes, Carious teeth, Esophageal stricture, Osteoporosis, Palmoplan...	OMIM:224230
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Myocardial infarctio...	ORPHA:679
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Cleft hard palate...	ORPHA:2152
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Toriello-Carey Syndrome	Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Micrognathia, Short neck, S...	ORPHA:3338
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Pes planus, Broad hallux, Arachnodactyly, Homocystinuria, Dental malocclusion, High...	OMIM:601552
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Posteriorly rotated ears, Tarsal synostosis, Elbow contracture...	OMIM:178110
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Matthew-Wood Syndrome	Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Pulmonary hypopl...	ORPHA:2470
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Esophageal vari...	ORPHA:731
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly, Flexion contracture	OMIM:619091
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation	OMIM:619483
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cyanosis, Apnea, Protruding tongue	OMIM:619580
Loeys-Dietz Syndrome 2	Micrognathia, Bifid uvula, Joint laxity, Syndactyly, Arachnodactyly, Eosinophilic infiltration of...	OMIM:610168
Meester-Loeys Syndrome	Pes planus, Arachnodactyly, Gingival overgrowth, Hypertrichosis, Umbilical hernia, High palate, B...	OMIM:300989
Symphalangism, Proximal, 1A	Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:185800
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Hypertrichosis, Juvenile rheumat...	OMIM:266270
Van Esch-O'Driscoll Syndrome	Esophageal atresia, Pulmonary artery stenosis, Spina bifida occulta, Tracheoesophageal fistula, P...	OMIM:301030
Witteveen-Kolk Syndrome	Glue ear, Proximal placement of thumb, Uplifted earlobe, High, narrow palate, Protruding ear, Sho...	OMIM:613406
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Vasculitis, Erythema, Urticaria, Arthritis, ...	ORPHA:343
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Limitation of joint mobility, Thin v...	ORPHA:3255
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Hypopigmentation of hair, Protruding ton...	ORPHA:98794
Adams-Oliver Syndrome 6	Syndactyly, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Brachydactyly	OMIM:616589
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Talipes, Sensorineural hearing impairment, Submucous cleft hard palate, Re...	OMIM:617660
Holoprosencephaly 13, X-Linked	Median cleft lip, Micrognathia, Submucous cleft hard palate, Vertebral clefting, Cleft palate, So...	OMIM:301043
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Alopecia, Talipes, Abnormality of the lower limb...	ORPHA:974
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Renal insufficiency, Dry hair, Abnormal pinna morphology,...	OMIM:216400
Ring Chromosome 7 Syndrome	Mandibular prognathia, Hypospadias, Single transverse palmar crease, Highly arched eyebrow, Promi...	ORPHA:1449
Solar Urticaria	Vertigo, Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, White hair, Fine hair, Long fibula, Abnormal metaphysis mor...	ORPHA:935
Curry-Jones Syndrome	Bicoronal synostosis, Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intest...	OMIM:601707
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Breast aplasia, Sparse pubic hair	ORPHA:3044
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Sandal gap, Malar prominence, Wide mouth, Hypoplasia of the zygomatic bone...	ORPHA:2715
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest...	OMIM:615512
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Short thumb, Osteoporosis, Vesicoureteral reflux, Cleft pa...	OMIM:612562
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Polycystic ovaries, Glycosuria, Abnor...	ORPHA:2298
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Prominence of the premaxilla, Abnormal cortical bone morphology, Abnor...	OMIM:614886
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Umbilical hernia, High palate, Low-set ear...	OMIM:104350
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn...	OMIM:217085
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Abnormal lung lobation, Orofacial cleft, High palate, Clinodactyly of the 5th finger, ...	OMIM:607872
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Sensorineural hearing impairment, Renal cyst, Pulmonary h...	OMIM:615636
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Syndactyly, Frontal balding, Thick lower lip vermilion, Wide mouth, Lon...	ORPHA:1942
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Breath-Holding Spells	Cyanosis	OMIM:607578
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Hematemesis, Esophageal varix, Hypertension, Pulmonary hypoplasia, Neonatal ...	OMIM:263200
Fibrous Dysplasia Of Bone	Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra...	ORPHA:249
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Urinary incontinence, Uplifted earlobe, Cleft hard palate...	ORPHA:261552
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti...	ORPHA:90060
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Pes planus, Recurrent respiratory infections, Posteriorly rotated ears,...	ORPHA:466950
Incontinentia Pigmenti	Delayed eruption of teeth, Alopecia, Supernumerary nipple, Conical tooth, Fine hair, Oligodontia,...	OMIM:308300
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hearing abnormality, Cleft...	ORPHA:2021
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Ketonuria, Aminoaciduria, High palate, Umbilical hernia	OMIM:614520
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Craniosynostosis, Supernumerary nipple, Sparse eyebrow, Aplas...	ORPHA:1521
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Alopecia, Posteriorly rotated ears, Hypospadias, Micrognathia, S...	ORPHA:96176
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Proximal placement of thumb, Sensorineural hearing impairment, Postaxial foot ...	ORPHA:139471
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal hair morphology, Abnormal foot morpholo...	ORPHA:64754
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology	ORPHA:803
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Warfarin-induced skin necrosis, Pulmonary embolism	OMIM:612336
Jacobsen Syndrome	Short neck, Webbed neck, Long hallux, Abnormality of the anus, Low-set, posteriorly rotated ears,...	ORPHA:2308
Dermatomyositis	Abnormal hair quantity, Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telang...	ORPHA:221
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Dry hair, Unilateral renal agenesis, Cariou...	ORPHA:90324
Brittle Cornea Syndrome	Hallux valgus, Pes planus, Arachnodactyly, Abnormality of the dentition, Sensorineural hearing im...	ORPHA:90354
Charcot-Marie-Tooth Disease, Type 4B3	Pes planus, Syndactyly, Distal lower limb muscle weakness, Urinary incontinence	OMIM:615284
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Cleft soft palate, Intestinal malrotation, Renal hypoplasia, Genu valgum, Downturned co...	OMIM:619321
Sepsis In Premature Infants	Abnormal bleeding, Tachycardia, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring,...	ORPHA:90051
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f...	ORPHA:330021
Bloom Syndrome	Syndactyly, Recurrent upper respiratory tract infections, Bronchiectasis, Agenesis of maxillary l...	OMIM:210900
Loeys-Dietz Syndrome 6	Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d...	OMIM:619656
Culler-Jones Syndrome	Cleft palate, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Nodular goiter, Premature thelarche, Polycystic ovaries	ORPHA:371428
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn...	DECIPHER:81
Frontofacionasal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Non-midline cleft lip, Cleft palate, Absent inner eyelashes	ORPHA:1791
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit...	ORPHA:314478
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Autosomal Dominant Cutis Laxa	Pes planus, Genu recurvatum, Unilateral renal agenesis, Hip dislocation, Talipes calcaneovalgus, ...	ORPHA:90348
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cryptorchidism, Unilateral renal agenesis	OMIM:620024
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Cleft upper lip, Long fingers, Synophrys, Cleft palate, Thin vermilio...	OMIM:614294
Congenital Sialidosis Type 2	Protruding tongue, Respiratory tract infection, Gingival overgrowth, Polydactyly, Low-set ears, G...	ORPHA:93400
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Sensorineural hearing impairment, Short phi...	ORPHA:3241
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re...	OMIM:611134
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal eyebrow morphology, Hearing impairment, A...	ORPHA:90153
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, P...	ORPHA:101085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Death in infancy, Cleft upper lip, Cleft palate, Macroglossia, Scoliosis	OMIM:613150
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Metaphyseal widening, Delayed epiphyseal ossification, Flared metaphysis, Sho...	ORPHA:93352
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Bidirectional shunt, Elevated ...	OMIM:619351
Boutonneuse Fever	Abnormal skin morphology of the palm, Respiratory failure, Vasculitis, Petechiae	ORPHA:83313
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Flexion contracture, Narr...	ORPHA:89842
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo...	OMIM:269150
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hypertension, Hypertrophic cardiomy...	ORPHA:1345
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility in females, Labial hypertrophy, Nephrolithiasis, Decreased fertility, Polycys...	OMIM:269700
Proboscis Lateralis	Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Abnormal location of the eyebrow,...	ORPHA:141099
Williams Syndrome	Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, V...	ORPHA:904
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g...	OMIM:175100
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cyanosis, Tachypnea,...	ORPHA:555874
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Recurrent respiratory infections, Ulnar deviation of the wrist...	ORPHA:97297
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Clinodactyly	ORPHA:1445
Noonan Syndrome 1	Hypospadias, Hearing impairment, Micrognathia, Short neck, High, narrow palate, Sensorineural hea...	OMIM:163950
Aspartylglucosaminuria	Mandibular prognathia, Pes planus, Recurrent respiratory infections, Aspartylglucosaminuria, Abno...	ORPHA:93
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Cyanosis, Congestive h...	ORPHA:31826
Farber Disease	Respiratory distress, Abnormality of the knee, Abnormality of the hand, Nodular pattern on pulmon...	ORPHA:333
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio...	ORPHA:340
Lipodystrophy, Congenital Generalized, Type 1	Decreased fertility in females, Labial hypertrophy, Nephrolithiasis, Polycystic ovaries, Clitoral...	OMIM:608594
Peters Plus Syndrome	Micromelia, Micrognathia, Abnormal pulmonary vein morphology, Widely spaced teeth, Clinodactyly o...	ORPHA:709
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Recurrent respiratory infections, Tongue atrophy, Sensorineural hearing impa...	OMIM:211530
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Dravet Syndrome	Limited knee extension, Cyanotic episode, Tibial torsion	ORPHA:33069
Feingold Syndrome 1	Jejunal atresia, Posteriorly rotated ears, Hearing impairment, Micrognathia, Esophageal atresia, ...	OMIM:164280
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Pancreatic Agenesis-Holoprosencephaly Syndrome	Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, Hypoplasia of the zy...	ORPHA:556955
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Sensorineural hearing impairment, Elbow flexion con...	OMIM:148210
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Ankle ...	ORPHA:85408
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo...	OMIM:615986
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Absent inner eyelashes, Malar flattening, Bifid uvula, Hypoplas...	OMIM:229400
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Congenital Myopathy 13	Micrognathia, Flexion contracture, Cleft palate, Downturned corners of mouth, High palate, Bilate...	OMIM:255995
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Wide mouth, Joint hyperflexibility, Hand polydactyly, Foot pol...	ORPHA:60040
Neonatal Marfan Syndrome	Long toe, Neonatal respiratory distress, Tricuspid regurgitation, Arachnodactyly, Micrognathia, L...	ORPHA:284979
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Urethral atresia, Pulmonary hypoplas...	OMIM:271520
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Osteopenia, Erosion of oral mucosa, Renal insufficiency, Foot joint contractu...	ORPHA:79408
Atypical Werner Syndrome	Micrognathia, Abnormal hair whorl, Finger clinodactyly, Premature graying of hair, Short palm, Ab...	ORPHA:79474
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera...	ORPHA:2221
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Arachnodactyly, Eosinophilic infil...	OMIM:613795
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Synophrys, Prot...	OMIM:612474
Marfan Syndrome	Pulmonary artery dilatation, Pes planus, Osteopenia, Arthralgia/arthritis, Dental crowding, Arach...	ORPHA:558
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hearing im...	ORPHA:1052
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure	ORPHA:1861
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Hypoplasia of delto...	OMIM:173800
Relapsing Polychondritis	Pericarditis, Alopecia, Chondritis of pinna, Atelectasis, Dyspnea, Myocarditis, Erythema, Large v...	ORPHA:728
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Short metacarpal, Toe syndactyly, Microtia, third degree, Absent eyelashes, Micro...	OMIM:200110
Ramos-Arroyo Syndrome	Sparse scalp hair, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Bilateral sen...	ORPHA:1051
Kabuki Syndrome	Hypoplasia of penis, Orofacial cleft, Protruding ear, High palate, Widely spaced teeth, Conductiv...	ORPHA:2322
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency	OMIM:610773
Timothy Syndrome	Thin upper lip vermilion, Pneumonia, Bronchitis, Cutaneous syndactyly, Microdontia	OMIM:601005
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Joint stiffness, Gingival overgrowth, Hypoplastic vertebral bodies...	OMIM:230600
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Generalized joint laxity, Protruding ear, High palate, Long philtrum, Microretrognathia, Joint la...	OMIM:601776
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Furrowed tongue, Coarse hair, Sparse hair, Pili torti, Joint hypermobility	OMIM:301845
Ciliary Dyskinesia, Primary, 1	Pneumonia, Absent frontal sinuses, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,...	OMIM:244400
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Oligodontia, Sho...	OMIM:180500
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Neuropathic arthropathy, Recurrent infections due to aspira...	OMIM:223900
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Homocystinuria, Cystathioninuria, Tracheoesophageal fistula, Methylmalo...	OMIM:277380
Buerger Disease	Acrocyanosis, Vasculitis	ORPHA:36258
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi...	ORPHA:97214
Kabuki Syndrome 1	Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Prominent fingertip pads, ...	OMIM:147920
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Toe clinodactyly, Joint laxity, Sandal gap, Post...	OMIM:620330
Grange Syndrome	Syndactyly, Increased susceptibility to fractures, Short palm	ORPHA:79094
Meacham Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve...	OMIM:608978
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Abnormal pinna morphology, Hypospadias, Absent tragus, Cleft lip, Syn...	OMIM:603457
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cyanosis, Anomalous origin of one pulmonary artery from ascend...	ORPHA:3384
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Gastric ulcer, Short phalanx of finger, Chronic kidney disease	OMIM:208060
Proteus Syndrome	Abnormal finger morphology, Abnormal lung lobation, Renal cyst, Abnormality of the neck, Clinodac...	ORPHA:744
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn...	OMIM:609192
Rajab Interstitial Lung Disease With Brain Calcifications 1	Intestinal malrotation, Portal hypertension, Tachypnea, Esophageal varix, Abnormal pulmonary inte...	OMIM:613658
Classic Homocystinuria	Gastrointestinal hemorrhage, Sparse scalp hair, Arachnodactyly, Dental crowding, Pulmonary emboli...	ORPHA:394
Penile Agenesis	Urethral atresia, male, Posteriorly rotated ears, Hydroureter, Rectal fistula, Bilateral renal hy...	ORPHA:49
Semilobar Holoprosencephaly	Central apnea, Median cleft lip, Abnormal pattern of respiration, Hip dislocation, Cleft palate, ...	ORPHA:220386
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Sensorineural hearing impairment, Low-set ears, Aspiration pneumonia, Smooth philtrum...	OMIM:616430
Alobar Holoprosencephaly	Central apnea, Median cleft lip, Abnormal pattern of respiration, Hip dislocation, Cleft palate, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Median cleft lip, Abnormal pattern of respiration, Hip dislocation, Cleft palate, ...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Median cleft lip, Abnormal pattern of respiration, Hip dislocation, Cleft palate, ...	ORPHA:93924
Hardikar Syndrome	Renal insufficiency, Hydroureter, Cleft soft palate, Intestinal malrotation, Celiac disease, Pulm...	OMIM:301068
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Sparse scalp hair, Thick lower lip vermili...	OMIM:614609
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Respiratory insufficiency, ...	ORPHA:746
Acquired Generalized Lipodystrophy	Proteinuria, Polycystic ovaries	ORPHA:79086
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Median cleft lip, Cleft palate	ORPHA:3374
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Intraventricular...	OMIM:613603
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L...	OMIM:620067
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor...	ORPHA:352540
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal lung lobation, Short philtrum, Arachnodactyly, Abnormal dental enamel morp...	ORPHA:567
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema, Facial erythema	OMIM:618307
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Thickened helices, Micrognathia, Short neck, ...	ORPHA:1587
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Craniosynostosis, Oral mucosal blisters, Palmoplantar keratoderma, Smooth tongue, Nail ...	ORPHA:79396
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the dentition, Abnormality of hair texture, Cardiomyopathy, Respiratory failure, P...	ORPHA:88618
Fanconi Renotubular Syndrome 5	Genu valgum, Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma	OMIM:618913
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Jejunal atresia, Hypospadias, Ileal atresia, Micrognathia, Joint stiffness, Protrudin...	OMIM:618820
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopat...	ORPHA:159
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Isotretinoin-Like Syndrome	Micrognathia, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microtia, Bilateral sens...	ORPHA:2306
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur...	ORPHA:90308
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Gardner Syndrome	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:79665
Sotos Syndrome	Ureteral duplication, No permanent dentition, Flexion contracture, Pedal edema, Conductive hearin...	ORPHA:821
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Rectal prolapse, Osteoarthritis, Shoulder dislocation...	ORPHA:287
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Netherton Syndrome	Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Malabsorption, Sparse eyeb...	ORPHA:634
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cyanosis	ORPHA:391428
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy, Respiratory failure, Pneumothorax	ORPHA:445038
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Intestinal malrotation, Ureteral atresia, Stage 5 chronic kidney disease, Pu...	OMIM:208540
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Periodontitis, Finger joint hypermobility, Ecchymosis, Emphyse...	OMIM:130050
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Glue ear, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin ey...	ORPHA:1433
Joubert Syndrome 1	Highly arched eyebrow, Protruding tongue, Postaxial hand polydactyly, Renal cyst, Occipital myelo...	OMIM:213300
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Stillbirth	OMIM:263630
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Tracheomalacia, Protruding tongue, Low anterior hairline, Gingival overgrowth, Wide mouth, Horizo...	OMIM:618797
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Pes planus, Hand muscle weakness, Arefle...	ORPHA:99956
Marfan Syndrome	Genu recurvatum, Dental crowding, Equinus calcaneus, Micrognathia, High palate, Emphysema, Tricus...	OMIM:154700
Infantile Krabbe Disease	Respiratory distress, Abnormal heart rate variability, Ankle clonus, Respiratory failure, Shoulde...	ORPHA:206436
Faundes-Banka Syndrome	Pes planus, Thin upper lip vermilion, Broad eyebrow, Sparse scalp hair, Micrognathia, Cupped ear,...	OMIM:619376
Dpagt1-Cdg	Arachnodactyly, Flexion contracture, Osteoporosis, Hypertrichosis, Pulmonary hypoplasia, Camptoda...	ORPHA:86309
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Abnormal periodontium morphology, High palate, Low-set, p...	ORPHA:480880
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture	OMIM:617239
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Celiac disease, Asthma, Recurrent upper respi...	ORPHA:293987
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Uplifted earlobe, Hypos...	OMIM:235730
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Malabsorption, Pulmonary embolism, Clubbing, Clubbing of fingers, Abnorma...	OMIM:226300
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Solitary Median Maxillary Central Incisor	Prominent median palatal raphe, Solitary median maxillary central incisor, Torus palatinus, Cleft...	OMIM:147250
Aortic Arch Interruption	Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood press...	ORPHA:2299
Camptobrachydactyly	Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract...	OMIM:114150
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Micrognathia, Abnormal lung lobation, Neonatal death, Hypospadias, Esophageal atresia, Cleft lip,...	OMIM:265380
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Acrocyanosis, Intern...	ORPHA:49566
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Bifid uterus, ...	OMIM:258040
Primary Hyperoxaluria	Cutis marmorata, Abnormality of the dentition, Heart block, Raynaud phenomenon, Arterial occlusio...	ORPHA:416
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Cleft palate, Short foot, Thickened helices, Macrotia, Joint hyp...	ORPHA:2714
Alpha-1-Antitrypsin Deficiency	Emphysema, Jaundice	ORPHA:60
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly, Hamartoma of tongue	ORPHA:1338
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Abnormality of the kidney, Enlarged polycystic ...	ORPHA:201
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Sarcoidosis, Susceptibility To, 1	Cough, Dyspnea, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, ...	OMIM:181000
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Tricuspid regurgitation, Abnormal dental enamel morphology, Micrognathia, A...	ORPHA:2556
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Congenital hip dislocation, Block vertebrae, Cyano...	OMIM:306955
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Overlapping toe, Partial anomalous pulmonary venous return, Systolic ...	OMIM:617478
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Anal atresia, Cleft upper lip, Cleft palate, Micrognathia	OMIM:236670
Familial Adenomatous Polyposis	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:733
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:110
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Charcot-Marie-Tooth Disease Type 4C	Pes planus, Tongue atrophy, Abnormal foot morphology, Sensorineural hearing impairment, Hip dyspl...	ORPHA:99949
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac...	ORPHA:51636
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Suprav...	ORPHA:75249
Loeys-Dietz Syndrome	Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Orofacial cl...	ORPHA:60030
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Furrowed tongue, Hematuria, C...	OMIM:158310
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Giant Cell Arteritis	Renal insufficiency, Alopecia, Abnormal pleura morphology, Joint stiffness, Recurrent pharyngitis...	ORPHA:397
Cardiac-Urogenital Syndrome	Intestinal malrotation, Tracheomalacia, Partial anomalous pulmonary venous return, 2-3 toe syndac...	OMIM:618280
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Delayed eruption of primary teeth, Urinary retention, Widely spaced teeth, Spars...	OMIM:617799
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Joubert Syndrome 33	Syndactyly	OMIM:617767
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Posteriorly ro...	ORPHA:2211
Criss-Cross Heart	Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Pulmonic stenosis, Mitral stenosis, Supr...	ORPHA:1461
Okamoto Syndrome	Tented upper lip vermilion, Redundant neck skin, Urinary incontinence, Downturned corners of mout...	ORPHA:2729
Aicardi-Goutieres Syndrome 1	Vasculitis, Erythema, Multiple gastric polyps, Cardiomyopathy, Prolonged neonatal jaundice, Acroc...	OMIM:225750
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Double Outlet Left Ventricle	Cyanosis, Pulmonary artery stenosis, Tachypnea, Orofacial cleft, Abnormal right ventricular funct...	ORPHA:3427
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Long foot, Abnormal thumb morphology, Metatarsus...	ORPHA:500095
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Respiratory insufficiency, Respiratory failure,...	OMIM:609015
Adult Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental morphology, Absent nipple, Sparse sc...	ORPHA:978
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Hypoplasia of the zygomatic bone	ORPHA:2835
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Pes valgus, Fair hair	ORPHA:72
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A...	ORPHA:93111
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus, Bifid uvula, Craniosynostosis, Micrognathia	OMIM:601374
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Adams-Oliver Syndrome 5	Syndactyly, Esophageal varix, Umbilical hernia, Dystrophic toenail, Brachydactyly	OMIM:616028
Holoprosencephaly 3	Cleft lip, Cleft palate, Hydronephrosis, Solitary median maxillary central incisor, Malar flatten...	OMIM:142945
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Psoriasis 14, Pustular	Oligoarthritis, Geographic tongue, Nail dystrophy, Furrowed tongue	OMIM:614204
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Hypospadias, Submucous cleft hard palate, Flexion contracture, Fine hair, Ankle clo...	OMIM:618891
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Thin upper lip vermilion, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoosperm...	ORPHA:2232
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, Ankle swelling...	ORPHA:3260
Methylcobalamin Deficiency Type Cble	Syndactyly, Hemolytic-uremic syndrome, Osteoporosis, Clinodactyly, Hearing impairment	ORPHA:2169
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Poliomyelitis	Respiratory failure requiring assisted ventilation, Paralytic ileus, Hypertension, Hypovolemic sh...	ORPHA:2912
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficie...	OMIM:252010
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U...	ORPHA:100050
Spinocerebellar Ataxia Type 36	Vertigo, Tongue atrophy, Tongue fasciculations, Hearing impairment	ORPHA:276198
Listeriosis	Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Congestive heart failure, Myocarditis...	ORPHA:533
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Lujo Hemorrhagic Fever	Respiratory distress, Shock, Crackles, Excessive bleeding after a venipuncture, Atelectasis, Nonp...	ORPHA:319213
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal femur morphology, Atrioventricular blo...	ORPHA:324
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations, Hearing impairment	OMIM:614153
Nocardiosis	Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Em...	ORPHA:31204
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Alopecia, Atrial fibrillation, Intestinal pse...	ORPHA:273
9q subtelomeric deletion syndrome	Synophrys, Protruding tongue	DECIPHER:52
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven...	OMIM:233450
Fucosidosis	Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebrae, Acrocyanosis, Vascu...	ORPHA:349
Agel Amyloidosis	Tongue atrophy, Proteinuria, Respiratory tract infection, Xerostomia, Stage 5 chronic kidney dise...	ORPHA:85448
Microcephaly 26, Primary, Autosomal Dominant	Protruding tongue, Recurrent pneumonia, Prominent eyelashes, Gingival overgrowth, Long philtrum, ...	OMIM:619179
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Genu valgum	ORPHA:488627
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Juvenile Sialidosis Type 2	Protruding tongue, Gingival overgrowth, Low-set ears, Generalized hypertrichosis, Umbilical herni...	ORPHA:93399
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Hartnup Disease	Abnormal urinary color, Malabsorption, Gingivitis, Glossitis, Neutral hyperaminoaciduria	ORPHA:2116
Abetalipoproteinemia	Abnormal bleeding, Kyphoscoliosis, Congestive heart failure, Respiratory failure, Prolonged proth...	ORPHA:14
Lipodystrophy, Familial Partial, Type 2	Labial pseudohypertrophy, Polycystic ovaries	OMIM:151660
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Bradycardia, Neonatal death, Re...	OMIM:617248
Familial Dysautonomia	Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Abnormal pleura morpholog...	ORPHA:1764
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Gastritis, Epistaxis, Hematemesis, Atelecta...	ORPHA:73263
Leigh Syndrome	Alopecia, Frontal hirsutism, Congestive heart failure, Respiratory failure, Hypertrophic cardiomy...	ORPHA:506
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Meningocele, Pulmona...	ORPHA:991
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Tongue atrophy, Flexion contracture of finger, Urinary i...	ORPHA:466768
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respir...	OMIM:610505
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Prematurely aged appearance, Poor wound healing, Progeroid facial appearanc...	OMIM:123700
Bardet-Biedl Syndrome 6	Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly	OMIM:605231
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral ...	OMIM:157170
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Intestinal malrotation, Pulmonary artery hypoplasia, Total anomalous pulmonary venous r...	OMIM:616749
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy, Respiratory failure, Prolonged prothrombin time, Respiratory insuffi...	OMIM:618329
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Eosinophilic Fasciitis	Arthritis, Acrocyanosis	ORPHA:3165
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Melkersson-Rosenthal Syndrome	Macroglossia, Oligosacchariduria, Cheilitis, Furrowed tongue	ORPHA:2483
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper...	ORPHA:99827
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Delayed cranial suture closure, Pyloric stenosis, Congesti...	ORPHA:90349
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Highly arched eyebrow, Protruding tongue, Synophrys, Do...	ORPHA:96147
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short hard palate, Genu varum	ORPHA:1969
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Hypoplasia of the zygomatic bone, High palate, Long philtrum, Neonatal death, Hitchhiker thumb	OMIM:618500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Premature graying of hair, Nail dystrophy, Pulmonary fibrosis, Emphysema	OMIM:620365
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges...	ORPHA:3092
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Malabsorption, Cheilitis, Abnormality of the tongue, Furro...	ORPHA:37
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemi...	ORPHA:774
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Apnea, Malabsorption, Elbow dislocation, Abnormality of the dentition, Osteoar...	ORPHA:285
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Nail ...	OMIM:615726
Myasthenia Gravis	Raynaud phenomenon, Dyspnea, Acrocyanosis, Rheumatoid arthritis	ORPHA:589
Bilateral Perisylvian Polymicrogyria	Micrognathia, Protruding tongue, Flexion contracture, Distal arthrogryposis, Hearing impairment	ORPHA:98889
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment	OMIM:251800
Branchiootic Syndrome 3	Branchial cyst, Commissural lip pit, Sensorineural hearing impairment	OMIM:608389
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax...	ORPHA:538
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Hereditary Folate Malabsorption	Recurrent respiratory infections, Glossitis, Cheilitis	ORPHA:90045
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure	OMIM:620327
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Recurrent bronchitis, Gastrointestinal stroma tumor,...	ORPHA:1572
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Hearing impairment, Thick lower lip vermilion, Broad isc...	OMIM:619727
Congenital Disorder Of Glycosylation, Type Iiw	Pes planus, Membranoproliferative glomerulonephritis, Micrognathia, Moderate albuminuria, Supernu...	OMIM:619525
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Generalized...	ORPHA:805
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure	ORPHA:3240
Generalized Pustular Psoriasis	Renal insufficiency, Cheilitis, Pedal edema, Arthritis, Geographic tongue	ORPHA:247353
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Raynaud phenomenon, Cardiomyop...	ORPHA:48435
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Low-set ears, Protruding tongue	OMIM:620352
Leprechaunism	Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Rectal prolap...	ORPHA:508
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury...	ORPHA:228116
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Calcification of the auricular cartilage, Transien...	ORPHA:51608
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia, Protruding tongue	ORPHA:53351
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, High, narrow palate, Synophrys, Protruding ear, Short philtrum, ...	OMIM:619475
Microsporidiosis	Sinusitis, Osteomyelitis, Pneumonia, Bronchitis, Urethritis, Bronchiolitis, Nephritis, Glossitis	ORPHA:2552
Alkaptonuria	Arthropathy, Vertebral fusion, Kyphosis, Arthritis, Limitation of knee mobility, Intervertebral d...	OMIM:203500
Holoprosencephaly 14	Cleft lip, Median cleft lip, Cleft palate	OMIM:619895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Alström Syndrome	Abnormality of dental color, Urinary incontinence, Decreased response to growth hormone stimulati...	ORPHA:64
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p...	ORPHA:70591
Multiple Endocrine Neoplasia Type 2	Joint laxity, Aganglionic megacolon, Elevated urinary catecholamine level, Elevated urinary norep...	ORPHA:653
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Niemann-Pick Disease Type C	Abnormal lung morphology, Jaundice, Respiratory insufficiency, Respiratory failure, Aspiration pn...	ORPHA:646
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Congestive heart failure, Intracranial hemorrhage, Hypertension...	ORPHA:363618
Grange Syndrome	Syndactyly, Recurrent fractures, Renovascular hypertension, Increased susceptibility to fractures...	OMIM:602531
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Kawasaki Disease	Abnormality of nail color, Proteinuria, Recurrent pharyngitis, Abnormal pulmonary interstitial mo...	ORPHA:2331
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary...	ORPHA:117
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis, Proteinuria	ORPHA:35858
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Rectal abscess, Cough, Pleural effusion	OMIM:306400
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Protruding ear, Knee dislocation, Neonatal death, Syndactyly, Broad first metatarsal,...	OMIM:619534
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Valvular pulmonary stenosis, Mitral regurg...	OMIM:212093
Hyperoxaluria, Primary, Type I	Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent cla...	OMIM:259900
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Methylmalonic aciduria, Low-set ears, ...	ORPHA:79282
Sarcoidosis	Abnormal cardiac ventricular function, Alopecia, Abnormal pleura morphology, Portal hypertension,...	ORPHA:797
Aicardi-Goutières Syndrome	Cutis marmorata, Raynaud phenomenon, Arthritis, Scoliosis, Prolonged neonatal jaundice, Hypertrop...	ORPHA:51
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Plague	Chapped lip, Abnormality of the elbow, Enterocolitis, Acute infectious pneumonia, Arthritis, Infl...	ORPHA:707
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Choreoacanthocytosis	Temporomandibular joint crepitus, Equinovarus deformity, Peroneal muscle atrophy, Protruding tong...	ORPHA:2388
Meacham Syndrome	Abnormal lung lobation, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the lungs, Pulmo...	ORPHA:3097
Glucagonoma	Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea	ORPHA:97280
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Abnormality of secondary sexual hair, Hypotension, Osteoporosis of vertebrae, Abnorm...	ORPHA:95494
Congenital Fibrosis Of Extraocular Muscles	Hand oligodactyly	ORPHA:45358
Aprosencephaly Syndrome	Hand oligodactyly	OMIM:207770

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 Rspo2

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 Rspo2.

No publications found that use IMPC mice or data for Rspo2.

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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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