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Gene: Nubp2 MGI:1347072

Gene Summary

Name:

nucleotide binding protein 2

Synonyms:

D17Wsu11e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Nubp2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.000317
short tibia	Nubp2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.09×10^-05
increased circulating fructosamine level	Nubp2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.95×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

44 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Nubp2 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 Nubp2 (0 diseases)
Human diseases predicted to be associated with Nubp2 (881 diseases)

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

The table below shows human diseases predicted to be associated to Nubp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Abnormality...	ORPHA:521308
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand pol...	OMIM:136760
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Short stature, Median cleft lip, Micromelia, Micrognathi...	OMIM:241800
Acrofacial Dysostosis, Weyers Type	Overlapping fingers, Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Sma...	ORPHA:952
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Short stature, Depressed nasal bridge, Micro...	ORPHA:166272
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the wris...	ORPHA:1350
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Mesomeli...	ORPHA:2632
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinod...	OMIM:200990
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Short neck, Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft ...	OMIM:612938
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior...	OMIM:601357
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Short stature, Camptodactyly of finger, Micrognathia, Abnormalit...	ORPHA:1794
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Short stature, Bilateral single transverse palmar creases, ...	ORPHA:1786
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Micrognathia, Split hand, Cleft palate, Webbed neck...	ORPHA:2145
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Atelosteogenesis, Type Ii	Sandal gap, Depressed nasal bridge, Micromelia, Short neck, Micrognathia, Bifid humerus, Flat ace...	OMIM:256050
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Severe short stature, Bowing of the long bones, ...	ORPHA:1240
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Short stature, Anteverted nares, Short neck, Broad nasa...	OMIM:615583
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Cleft upper lip, Broad nasal ...	OMIM:603671
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Achondrogenesis Type 1B	Thickened nuchal skin fold, Severe short stature, Anteverted nares, Micromelia, Short neck, Micro...	ORPHA:93298
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Short s...	ORPHA:1908
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Short stature, Overlapping toe, Single transverse palmar crease, Micrognathia, ...	OMIM:201170
Ruvalcaba Syndrome	Short metacarpal, Short stature, Dental crowding, Micromelia, Underdeveloped nasal alae, Limited ...	OMIM:180870
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Odontochondrodysplasia 1	Delayed eruption of teeth, Short metacarpal, Brachydactyly, Short stature, Micromelia, Metaphysea...	OMIM:184260
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, A...	ORPHA:2928
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Absent thumb, Absent radius, Short neck, Short tibia, Humeroradial synosto...	OMIM:251230
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Micrognathia, Elbow dis...	ORPHA:93329
Achondrogenesis Type 1A	Thickened nuchal skin fold, Severe short stature, Anteverted nares, Micromelia, Short neck, Micro...	ORPHA:93299
Raine Syndrome	Mandibular prognathia, Micromelia, Short neck, Micrognathia, High palate, Choanal stenosis, Neona...	OMIM:259775
Hartsfield Syndrome	Encephalocele, Depressed nasal bridge, Non-midline cleft lip, Split hand, Cleft palate, Lobar hol...	ORPHA:2117
Tibial Hemimelia	Absent tibia	OMIM:275220
Orofaciodigital Syndrome Type 10	Short neck, Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Achondrogenesis	Thickened nuchal skin fold, Severe short stature, Anteverted nares, Micromelia, Short neck, Micro...	ORPHA:932
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft p...	OMIM:614815
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Diastrophic Dysplasia	Bowing of the long bones, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Proximal p...	ORPHA:628
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand...	OMIM:200600
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T...	ORPHA:1307
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal syno...	ORPHA:2639
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Short stature, Iliac crest serration, Micromelia, Short neck, Postnatal growth retarda...	OMIM:613320
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A...	OMIM:619148
Down Syndrome	Short neck, Depressed nasal ridge, Downturned corners of mouth, Microdontia, Clinodactyly of the ...	ORPHA:870
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Anteverted nares, Aplastic c...	ORPHA:50945
Oculoauriculofrontonasal Syndrome	Encephalocele, Wide nose, Micrognathia, Underdeveloped nasal alae, Cleft lip, Bifid nasal tip, Cl...	ORPHA:398156
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent...	ORPHA:324410
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Short neck, Abnormality of the dentition, Sma...	ORPHA:238750
Anophthalmia Plus Syndrome	Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Facial cleft, Cl...	ORPHA:1104
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Clinodactyly of the 5th finger, Hypoplasia of...	ORPHA:2616
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Postnatal ...	OMIM:300963
Lambert Syndrome	Wide mouth, Intrauterine growth retardation, Branchial anomaly, Malar flattening	ORPHA:1296
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Severe short stature, Broad long bones, Micromelia, Shor...	OMIM:224400
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Redundant neck skin, Rhizomelia, Anteverted nares, Micromelia, Short neck,...	ORPHA:1842
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Short neck, Cleft upper lip, Depressed nasal ridge, Cleft...	OMIM:613885
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Short stature, Micromelia, Anteverted nares, Genu valgum, High palate...	ORPHA:1035
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Scapular winging, Tricuspid regurgitation, Short stature, Monkey wrench femora...	OMIM:618870
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Narrow...	ORPHA:3121
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, High, narrow palate, Depr...	OMIM:607597
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal...	ORPHA:3186
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Short stature, Macrodontia, Proximal placement of thumb, Short neck, Postn...	OMIM:212066
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the philtrum, Micromelia, Abnormal...	ORPHA:1597
Metatropic Dysplasia	Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Hydrocephalus,...	ORPHA:2635
Frontofacionasal Dysplasia	Encephalocele, Short stature, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midli...	ORPHA:1791
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul...	ORPHA:2741
Atelosteogenesis Type Ii	Micromelia, Short neck, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cer...	ORPHA:56304
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Single transverse palmar crease, Persistenc...	OMIM:610253
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance...	OMIM:215045
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror...	ORPHA:2019
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Short neck, Micrognathia, Metaphyseal...	OMIM:255800
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, ...	OMIM:108720
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma...	ORPHA:429
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Micrognathia...	OMIM:224410
Hypertrichosis Cubiti	Severe short stature, Rhizomelia, Prominent nasal bridge, Micromelia, Abnormality of the elbow, A...	ORPHA:2220
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Severe short stature, Aplasia/Hypoplasia inv...	ORPHA:633
Image Syndrome	Intrauterine growth retardation, Depressed nasal bridge, Metaphyseal dysplasia, Micromelia	ORPHA:85173
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Broad long bones, Micromelia, Bowing of the legs, Short neck...	ORPHA:1865
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Tapered finger, Micrognathia, Protruding tongue, Wide nasal bridge, G...	OMIM:618580
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Hypertelorism, Microtia, Facial Clefting Syndrome	Micrognathia, Cleft upper lip, Broad nasal tip, Facial cleft, 2-3 toe syndactyly, Cleft palate, S...	OMIM:239800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Unilateral Ocular Duplication	Encephalocele, Median cleft lip, Midline facial cleft, Cleft palate, Iris coloboma	ORPHA:3374
Pallister-Hall Syndrome	Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly...	OMIM:146510
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Short stature, Anteverted nares, Depressed nasal bridge, Protruding tongue, Malabsorpt...	OMIM:242860
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Short stature, Abnormal dental enamel morphology, ...	ORPHA:1798
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
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 Dysplasia, Nievergelt Type	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro...	ORPHA:2633
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Disproportionate short stature,...	ORPHA:1801
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Short stature, Abnormal femoral neck morphology, Micromelia, Co...	ORPHA:63446
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Antevert...	OMIM:301040
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Overlapping fingers, Short stature, Short neck, Micrognathia, Congestive heart failure...	OMIM:608779
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Seckel Syndrome 4	11 pairs of ribs, Severe short stature, Underdeveloped nasal alae, Steep acetabular roof, Intraut...	OMIM:613676
Alazami-Yuan Syndrome	Thin upper lip vermilion, Broad hallux, Short stature, Single transverse palmar crease, Dental cr...	OMIM:617126
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Short metatarsal, Abnormal carpal morphology, Coxa vara, Upper limb...	ORPHA:93351
Jeune Syndrome	Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly...	ORPHA:474
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Prominent nasal bridge, Postaxial polydactyly, Hydroce...	OMIM:614424
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Cocaine Embryofetopathy	Encephalocele, Intestinal atresia, Short distal phalanx of finger	ORPHA:1911
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Talipes equinovarus	OMIM:614209
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Depressed nasal bridge, Micromelia, Increased nuchal translucency, ...	ORPHA:93274
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Frontorhiny	Encephalocele, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, C...	ORPHA:391474
C Syndrome	Short metacarpal, Toe syndactyly, Short stature, Anteverted nares, Micromelia, Micrognathia, Acce...	OMIM:211750
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Short neck, Narrow mouth, Whi...	OMIM:277720
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Abnormal sacroiliac joint morphology, Increased nuchal transl...	ORPHA:2655
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Metatarsus adduct...	ORPHA:2249
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Iris coloboma, Encephalocele,...	ORPHA:861
Phocomelia, Schinzel Type	Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligod...	ORPHA:2879
Astley-Kendall Dysplasia	Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia	ORPHA:85175
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Depressed nasal bridge, Micromelia, Dumbbell-shaped long bone, Short n...	OMIM:151210
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow...	ORPHA:561
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Microdontia, Syndactyly, Short stat...	OMIM:614091
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Umbilical hernia, Neonatal short-limb short...	OMIM:600972
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Severe short stature, Micromelia, Coxa vara	ORPHA:168555
Glutamine Deficiency, Congenital	Anteverted nares, Depressed nasal bridge, Micromelia, Wide nasal bridge, Thin vermilion border, B...	OMIM:610015
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Dental malocclusion, Anosmia, Cleft palat...	OMIM:603457
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Schisis Association	Encephalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un...	ORPHA:63862
Pai Syndrome	Encephalocele, Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Bifid uvu...	ORPHA:1993
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia	ORPHA:291
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephaloce...	ORPHA:90652
Ring Chromosome 22 Syndrome	Protruding tongue, Bulbous nose, 2-3 toe syndactyly, Growth delay, Large hands, Thick vermilion b...	ORPHA:1446
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Parietal Foramina 2	Encephalocele, Depressed nasal bridge, Wide nasal ridge	OMIM:609597
Holoprosencephaly 13, X-Linked	Median cleft lip, Alobar holoprosencephaly, Micrognathia, Submucous cleft hard palate, Cleft pala...	OMIM:301043
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Depressed nasal b...	ORPHA:2025
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Broad nasal tip, Bifid nasal tip, Growth delay, Hypertension, Short foot, Wide mouth, Median pseu...	OMIM:619758
Joubert Syndrome 16	Encephalocele, Coloboma, Polydactyly	OMIM:614465
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft upper lip, Cleft palate, Coloboma, Deep palmar crease	OMIM:600251
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Short stature, Single transverse palmar crease, Protruding tongue, Broad nasal t...	OMIM:618106
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Conical to...	ORPHA:228390
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the hand, Anencepha...	ORPHA:1590
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge	OMIM:200130
Acrofrontofacionasal Dysostosis	Short stature, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft...	ORPHA:1784
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele, Postaxial polydactyly type A	ORPHA:1003
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Occipital encephalocele, Hydrocephalus, Orofacial cleft	ORPHA:324416
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep...	ORPHA:1529
Dk Phocomelia Syndrome	Encephalocele, Phocomelia	OMIM:223340
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Severe short-limb dwarfi...	ORPHA:1426
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Overlapping toe, Short stature, Severe periodontitis, Protruding tongue, L...	ORPHA:99843
Frontonasal Dysplasia 2	Encephalocele, Tessier number 13 facial cleft, Aplasia of the nasal bone, Cleft ala nasi, Antever...	OMIM:613451
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of ...	ORPHA:2491
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Depressed nasal bridge, Single transverse palmar crease, Tapered finger, P...	OMIM:617804
Icf Syndrome	Communicating hydrocephalus, Short stature, Depressed nasal bridge, Protruding tongue, Micrognath...	ORPHA:2268
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H...	OMIM:612651
Mosaic Trisomy 9	Intestinal malrotation, Rocker bottom foot, Micromelia, Camptodactyly of finger, Short neck, Spin...	ORPHA:99776
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Facial cleft, Widely spaced teeth, High palate, Solitary median maxil...	ORPHA:66625
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma...	ORPHA:87
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Submucous cleft...	ORPHA:2189
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Short stature...	ORPHA:261330
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Micrognathi...	OMIM:122470
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature, Trismus, Submucous cleft hard palate, Short dis...	OMIM:609166
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
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Thin upper lip vermilion, Mandibular prognathia, Dental crowdi...	ORPHA:435938
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm...	ORPHA:1277
Filippi Syndrome	Single transverse palmar crease, Underdeveloped nasal alae, Postnatal growth retardation, 2-4 toe...	OMIM:272440
Holoprosencephaly	Short neck, Deep philtrum, Depressed nasal ridge, Absent nares, Holoprosencephaly, Chorioretinal ...	ORPHA:2162
Pseudoprogeria Syndrome	Short stature, Narrow nasal tip, Growth delay, Cranium bifidum occultum, Convex nasal ridge	ORPHA:2985
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Proportionate short stature, Micromelia	ORPHA:93283
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Short stature, Micrognathia, Short neck, Underdeveloped nasal alae, Hydrocephalus, Wide nasal bri...	ORPHA:1516
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Achondrogenesis Type 2	Short stature, Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Pi...	ORPHA:93296
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Growth delay, Short foot, Aplasia...	ORPHA:52056
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Cerebrooculonasal Syndrome	Encephalocele, Anteverted nares, Prominent nasal bridge, Postaxial polydactyly, Proboscis, Postna...	OMIM:605627
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Anteverted nares, Portal hypertension, Postaxial hand pol...	OMIM:216360
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
X-Linked Mandibulofacial Dysostosis	Short stature, Prominent nasal bridge, Micrognathia, Branchial anomaly, High palate, Hypoplasia o...	ORPHA:1131
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Short stature, Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, Short foot, High palat...	OMIM:248910
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Broad nasal tip, Bifid nasal tip, Meningocele, Patellar hypoplas...	ORPHA:1827
Catel-Manzke Syndrome	Short stature, Camptodactyly of finger, Metatarsus valgus, Micrognathia, Radial deviation of the ...	ORPHA:1388
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Microdontia, Prominent nose, Underdeveloped nasal alae, Disproportionate short statur...	ORPHA:2637
Holoprosencephaly 1	Short stature, Proboscis, Alobar holoprosencephaly, Facial cleft, Aplasia of the nose, Cyclopia, ...	OMIM:236100
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Isolated Dandy-Walker Malformation	Encephalocele, Cleft palate	ORPHA:217
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetraphocomelia, Hypo...	OMIM:215140
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth,...	OMIM:619179
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Hy...	OMIM:611134
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hypoplastic ilia, Abno...	ORPHA:1860
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia,...	OMIM:602557
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Short stature, Micromelia, Sandal gap, Postnatal growth retardation, Sh...	OMIM:614800
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial ...	ORPHA:175
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Prominent nasal bridge, Underdeveloped nasal alae, Prominent nose, Shortening of all distal phala...	OMIM:106995
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Joubert Syndrome 1	Anteverted nares, Protruding tongue, Postaxial hand polydactyly, Optic disc coloboma, Occipital m...	OMIM:213300
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Parietal Foramina 1	Encephalocele, Cleft palate, Cleft upper lip	OMIM:168500
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e...	OMIM:614078
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Autosomal Dominant Robinow Syndrome	Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara,...	ORPHA:3107
Fryns Microphthalmia Syndrome	Neural tube defect, Facial cleft, Bilateral cleft lip and palate	OMIM:600776
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Redundant neck skin, Rocker bottom foot, Single transverse palmar cr...	OMIM:214100
Bartsocas-Papas Syndrome 1	Short neck, Micrognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Short phalanx of fin...	OMIM:263650
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Congenital Sialidosis Type 2	Abnormal EKG, Protruding tongue, Hydrocephalus, Gingival overgrowth, Telangiectasia, Polydactyly,...	ORPHA:93400
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Mesomelic short statu...	ORPHA:1765
Supernumerary Nostril	Abnormality of ethmoid sinus, Supernumerary naris, Choanal atresia, Facial cleft	ORPHA:141096
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b...	OMIM:612916
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Short metacarpal, Short stature, Dental crowding, Underdeveloped nasal ...	OMIM:190351
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Anteverted nares, Prominent nasal bridge, Tapered fin...	OMIM:618825
Radio-Renal Syndrome	Severe short stature, Depressed nasal bridge, Micromelia, Short neck, Micrognathia, High, narrow ...	ORPHA:3015
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Oculocerebrocutaneous Syndrome	Cleft ala nasi, Orbital encephalocele, Congenital hip dislocation, Cleft palate	OMIM:164180
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Disproportionate short-limb short stature, Micromelia	ORPHA:2772
Roifman Syndrome	Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Short stature, Single transverse...	OMIM:616651
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Anteverted nares, Protruding tongue, Growth delay, Downturned corners of mo...	ORPHA:96147
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Or...	ORPHA:220493
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bon...	ORPHA:1508
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Desmosterolosis	Severe short stature, Depressed nasal bridge, Intestinal malrotation, Micromelia, Micrognathia, M...	ORPHA:35107
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Frontonasal Dysplasia 3	Wide nasal bridge, Facial cleft, Cleft palate, Underdeveloped nasal alae	OMIM:613456
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Coloboma, Pul...	OMIM:166750
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Short stature, Single transverse palmar crease, Anteverted nares, Micro...	OMIM:613604
Fibrochondrogenesis	Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Anteverted ...	ORPHA:2021
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplas...	OMIM:617895
Potocki-Shaffer Syndrome	Prominent nasal bridge, Micrognathia, Broad nasal tip, Underdeveloped nasal alae, Depressed nasal...	ORPHA:52022
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal phalanx o...	ORPHA:1617
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Ha...	ORPHA:2318
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Facial cleft, Clef...	ORPHA:306542
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit...	ORPHA:289
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Or...	ORPHA:220497
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Severe short stature, Broad long bones, Micromelia, Abnormal shoulder morpholog...	ORPHA:1422
Roifman Syndrome	Narrow nasal bridge, Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Short s...	ORPHA:353298
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Or...	ORPHA:475
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Anteverted nares, Microg...	OMIM:617062
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Short stature, Anteverted nares, Depressed nasal bridge, Underdevelope...	OMIM:615866
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension...	ORPHA:974
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Mi...	OMIM:612289
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal...	ORPHA:2007
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Short neck, Micrognathia, Underdeveloped nasal alae, Bul...	OMIM:616549
Joubert Syndrome 7	Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Abnormality of the dentition, Intracranial hemorrhage, Stillbirth...	OMIM:241500
Parietal Foramina 3	Encephalocele	OMIM:609566
Enlarged Parietal Foramina	Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Broad thumb	ORPHA:60015
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encep...	OMIM:619879
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depressed nasal bri...	OMIM:616809
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Depressed nasal ridge, Triangular shape...	OMIM:271665
Meckel Syndrome 13	Occipital encephalocele, Micrognathia	OMIM:617562
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Micrognathia...	OMIM:619777
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Orofacial cleft, Macroglossia	ORPHA:79107
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Frontonasal Dysplasia With Alar Clefts	Cleft ala nasi, Underdeveloped nasal alae	OMIM:203000
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Hall-Riggs Syndrome	Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Anteverted nares, Pr...	ORPHA:2107
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Anteverted nares, Micrognathia, Underdeveloped nasal a...	OMIM:619941
Gm1-Gangliosidosis, Type Ii	Coxa valga, Protruding tongue, Gingival overgrowth, Hypoplastic vertebral bodies, Narrow mouth, L...	OMIM:230600
Meckel Syndrome, Type 1	Occipital encephalocele, Short neck, Micrognathia, Lobulated tongue, Iris coloboma, Syndactyly, C...	OMIM:249000
Lissencephaly 8	Occipital encephalocele, Talipes equinovarus	OMIM:617255
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Anteverted nares, Protruding tongue, Gingival overgrowth, Wide mouth	OMIM:618797
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Freeman-Sheldon Syndrome	Short stature, Camptodactyly of finger, Abnormality of the dentition, Underdeveloped nasal alae, ...	ORPHA:2053
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Underdeveloped nasal alae, Increased nuchal translucency, Wide nasal bridge, Cleft palate, Furrow...	ORPHA:453499
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Short neck, Micrognathia, Widely-spaced maxillary central incisors, H...	OMIM:309580
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Short neck, Micrognathia, Downturned corners of mouth, W...	ORPHA:199
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Short ne...	ORPHA:508488
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polydactyly, Depressed nasa...	OMIM:617102
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Pseudoachondroplasia	Metaphyseal widening, Delayed epiphyseal ossification, Abnormal femoral epiphysis morphology, Sho...	ORPHA:750
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue	ORPHA:98795
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Micromelia, Short neck, Aplastic clavicle, Hydroce...	OMIM:616546
Neu-Laxova Syndrome 1	Micromelia, Short neck, Micrognathia, Swollen lip, Calcaneovalgus deformity, Depressed nasal ridg...	OMIM:256520
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Short neck, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Shor...	ORPHA:2636
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Small cervical vertebral bodies, Redundant neck skin, Short stature, Abn...	ORPHA:397715
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Limb Body Wall Complex	Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,...	ORPHA:2369
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te...	OMIM:257850
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short stature, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalange...	ORPHA:3201
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Abnormal ethmoid bone morphology, Nasofro...	ORPHA:101030
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide...	OMIM:601224
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot ...	OMIM:607361
Degcags Syndrome	Micrognathia, Prominent nose, High palate, Intrauterine growth retardation, Syndactyly, Anteverte...	OMIM:619488
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Filippi Syndrome	Finger syndactyly, Enlarged epiphyses, Severe short stature, Short stature, Wide nose, Prominent ...	ORPHA:3255
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Short stature, Abnormality of radial epiphyses, Arthra...	ORPHA:166002
Angelman Syndrome Due To A Point Mutation	Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue	ORPHA:411511
Burn-Mckeown Syndrome	Mandibular prognathia, Short stature, Choanal atresia, Prominent nasal bridge, Micrognathia, Clef...	OMIM:608572
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Micromelia, Short neck, Adducted thumb, Long philtrum, Short nose, Bilateral si...	ORPHA:50810
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Schwartz-Jampel Syndrome	Micromelia, Short neck, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Pursed l...	ORPHA:800
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu...	OMIM:602418
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Short stature, Abnormality of the hand, Micrognathi...	ORPHA:1387
Down Syndrome	Thickened nuchal skin fold, Redundant neck skin, Sandal gap, Short stature, Single transverse pal...	OMIM:190685
Neu-Laxova Syndrome	Abnormality of the philtrum, Spina bifida, Micromelia, Micrognathia, Trismus, Submucous cleft har...	ORPHA:2671
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Facial cleft, Orofacial cleft, Tracheoesophageal fistula, Foot polyd...	ORPHA:268249
Mcdonough Syndrome	Mandibular prognathia, Short stature, Micrognathia, Open bite, Prominent nose, Underdeveloped nas...	ORPHA:2471
Acrocephalopolydactyly	Short neck, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Cystic hygroma,...	ORPHA:221054
Infantile Systemic Hyalinosis	Severe short stature, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Short neck...	ORPHA:2176
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad...	OMIM:120400
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch...	OMIM:219000
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal metacarpal morphol...	ORPHA:2631
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Kbg Syndrome	Thin upper lip vermilion, Short stature, Single transverse palmar crease, Macrodontia, Short neck...	ORPHA:2332
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Abnormal finger morphology, Phocomelia, Microgastria, Aplastic c...	ORPHA:2538
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Bifid ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Bifid ...	ORPHA:352665
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Hypodontia...	ORPHA:1236
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Diastema, Short neck, Underdeveloped nasal alae, Dental malocclusion...	ORPHA:436245
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Micrognathia, Short neck, High, narrow palate, Underd...	ORPHA:2516
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Absent vertebra, A...	ORPHA:63259
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, High palate, Short philtrum, Camptoda...	ORPHA:261337
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Postaxial hand...	ORPHA:2166
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Short stature, Underdeveloped nasal alae, Cleft palate, Intrauterine gr...	OMIM:611867
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature, Cleft palate, Osteolytic defects of the distal ...	ORPHA:50815
Becker Nevus Syndrome	Upper limb asymmetry, Abnormal tibia morphology, Spina bifida occulta, Micromelia	ORPHA:64755
Mulibrey Nanism	Wide nose, Short stature, Single transverse palmar crease, Dental crowding, Depressed nasal bridg...	OMIM:253250
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Short neck, High palate, Spina bifida occulta, Wrist flex...	OMIM:193700
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Macroglossia, Cardiomyopathy, Coloboma	ORPHA:370959
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Leber Congenital Amaurosis	Encephalocele	ORPHA:65
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Ollier Disease	Abnormal metaphysis morphology, Micromelia	ORPHA:296
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Choan...	OMIM:620186
Juvenile Sialidosis Type 2	Umbilical hernia, Gingival overgrowth, Protruding tongue	ORPHA:93399
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue	ORPHA:98794
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm...	ORPHA:1675
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Pseudotrisomy 13 Syndrome	Encephalocele, 11 pairs of ribs, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, 2-3 ...	OMIM:264480
Zimmermann-Laband Syndrome 2	Short stature, Short neck, Underdeveloped nasal alae, Bifid nasal tip, Deep philtrum, Gingival ov...	OMIM:616455
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Coloboma, Short stature, Depressed nasal bridge, Myelomeningocele, N...	ORPHA:94065
Vacterl/Vater Association	Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Non-midline cleft lip, Ane...	ORPHA:887
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Micrognathia, Underdeveloped nasal alae, Increased nuchal translucency, D...	ORPHA:77300
Abruzzo-Erickson Syndrome	Toe syndactyly, Short stature, Short toe, Cleft palate, Ulnar deviation of finger, Coloboma, Radi...	ORPHA:921
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Trisomy 18P	Short stature, Micrognathia, Underdeveloped nasal alae, High, narrow palate, Pyloric stenosis, Ab...	ORPHA:1715
19P13.3 Microduplication Syndrome	Micrognathia, Prominent nose, Long fingers, Underdeveloped nasal alae, Hip dislocation, Cleft pal...	ORPHA:447980
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Prominent nose, Delayed ep...	OMIM:210710
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Short neck, Advanced ossification of carpal bone...	OMIM:269250
Pallister-Hall Syndrome	Depressed nasal ridge, Holoprosencephaly, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, ...	ORPHA:672
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Delayed menarche	ORPHA:72
Roberts-Sc Phocomelia Syndrome	Short neck, Micrognathia, Tetraphocomelia, Coloboma, High palate, Phocomelia, Wrist flexion contr...	OMIM:268300
Peters Plus Syndrome	Micromelia, Short neck, Micrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Spina ...	ORPHA:709
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Portal hypertension, Postaxial...	ORPHA:1454
3Mc Syndrome 3	Short stature, Cleft upper lip, Preaxial polydactyly, Facial cleft, Cleft palate, Growth delay, R...	OMIM:248340
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ...	ORPHA:356961
Joubert Syndrome 2	Encephalocele, Depressed nasal bridge, Postaxial hand polydactyly, Optic disc coloboma, Hydroceph...	OMIM:608091
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact...	ORPHA:1788
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Short palm, Duplication of...	OMIM:268310
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Thickened nuchal skin fold, Bilateral single transverse palmar creases, Camptodactyly of finger, ...	ORPHA:2083
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Facial cleft, Cleft palate, Hand polydactyly, Talipes...	OMIM:217100
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine...	ORPHA:364577
Intellectual Developmental Disorder, Autosomal Recessive 5	Short stature, Prominent nasal bridge, Prominent nose, Postnatal growth retardation, Underdevelop...	OMIM:611091
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Natal tooth, Broad hallux, Hamartoma of tongue, Micro...	OMIM:615948
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Micromelia, Optic disc coloboma, Short phalanx of finger,...	OMIM:600092
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of car...	OMIM:620269
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Osteoglophonic Dysplasia	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Protruding tongue	OMIM:619580
Osteogenesis Imperfecta	Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal tibia morphol...	ORPHA:666
Recon Progeroid Syndrome	Prominence of the premaxilla, Arachnodactyly, Short stature, Proximal placement of thumb, Dental ...	OMIM:620370
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Depressed nasa...	ORPHA:2211
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Exaggerated cupid's bow, Prominent nasal bridge, Tapered finger, Mic...	OMIM:618659
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Short stature, Sandal gap, Micrognathia, Cleft soft palate, Abnormality of the dent...	OMIM:618529
Joubert Syndrome 9	Encephalocele	OMIM:612285
Duplication Of The Pituitary Gland	Encephalocele, Short stature, Short neck, Supernumerary tooth, Abnormality of the tongue, Cleft p...	ORPHA:314621
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p...	OMIM:616331
Chromosome 19Q13.11 Deletion Syndrome, Distal	Short stature, Overlapping toe, Anteverted nares, Micrognathia, Postnatal growth retardation, Car...	OMIM:613026
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Broad nasal ti...	ORPHA:466950
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micromelia, Micrognathia, Pylor...	OMIM:613848
Pentalogy Of Cantrell	Encephalocele, Abnormal tibia morphology, Split hand, Anencephaly, Hydrocephalus, Orofacial cleft...	ORPHA:1335
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Short ne...	ORPHA:3144
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phala...	OMIM:300863
Craniotelencephalic Dysplasia	Frontal encephalocele	OMIM:218670
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, Short thumb, High, narrow pal...	ORPHA:436003
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes...	OMIM:607143
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Protruding tongue, Cardiomyopathy, Macroglossia, Redu...	ORPHA:258
Autism, Susceptibility To, X-Linked 6	Underdeveloped nasal alae, Short philtrum, Narrow mouth	OMIM:300872
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Intracranial hemorrhage, Short philtrum, High p...	OMIM:613406
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Ethmoidal encephalocele	ORPHA:280195
Otospondylomegaepiphyseal Dysplasia	Short neck, Micrognathia, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph...	ORPHA:1427
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co...	OMIM:180700
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
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Low posterior hairline, A...	ORPHA:1803
13Q12.3 Microdeletion Syndrome	Thin upper lip vermilion, Short stature, Underdeveloped nasal alae, Hip dysplasia, Oligodontia, L...	ORPHA:412035
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Short stature, Anteverted nares, Limited elbow moveme...	OMIM:615065
C Syndrome	Toe syndactyly, Short stature, Bilateral single transverse palmar creases, Micromelia, Short neck...	ORPHA:1308
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Campomelia, Cumming Type	Bowing of the long bones, Micromelia, Clubbing of toes, Cleft palate, Abnormal intestine morpholo...	ORPHA:1318
Griscelli Syndrome	Encephalocele, Pyloric stenosis, Hydrocephalus, Short stature	ORPHA:381
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Short stature, Underdeveloped nasal alae, Dental malocclusion, Widely spaced teeth, Malar flattening	OMIM:616108
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,...	OMIM:619720
Shox-Related Short Stature	Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth...	ORPHA:314795
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Anteverted nares, Decreased fibular diameter, Short neck, Microgna...	OMIM:616897
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Short stature, Abnormality of the dentition, Growth delay, Epiphyseal stippling, Abno...	ORPHA:177
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Pulmonic stenosis, Protruding tongue	OMIM:614325
Frontofacionasal Dysplasia	Cleft upper lip, Underdeveloped nasal alae, Short nose, Orofacial cleft, Midline defect of the no...	OMIM:229400
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Spina bifida...	ORPHA:2911
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly, Clinodactyly of the 5th finger, Broad columell...	ORPHA:2710
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia involving the nose, Microglossia, Absent nares, Holoprosencephaly, Narrow mout...	ORPHA:990
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Wide nose, Exaggerated cupid's bow, Anteverted nares, Narrow nasal ridg...	OMIM:619293
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Microglossia, Dental malocclusion, Cleft palate, Tem...	OMIM:614669
Orofaciodigital Syndrome Xv	Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid...	OMIM:617127
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of...	ORPHA:1135
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Chromosome Xp11.23-P11.22 Duplication Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, 2-3 toe cutaneous syndactyly, Low posterior ha...	OMIM:300801
Pontocerebellar Hypoplasia Type 10	Growth delay, Wide nasal bridge, Underdeveloped nasal alae	ORPHA:411493
Seckel Syndrome 2	Short stature, Micrognathia, Prominent nose, Heart murmur, Growth delay, Clinodactyly of the 5th ...	OMIM:606744
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C...	OMIM:234100
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Prominent nose, High palate, H...	ORPHA:763
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax...	OMIM:619143
Fanconi Anemia, Complementation Group S	Short stature, Macrodontia, Proximal placement of thumb, Anteverted nares, Prominent nasal bridge...	OMIM:617883
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge...	ORPHA:1252
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag...	ORPHA:3016
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Anteverted nares, Congenital pyloric atresia, Underdeveloped nasal alae	OMIM:612138
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Branchiootic Syndrome 1	Branchial fistula, Retrognathia	OMIM:602588
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,...	OMIM:311200
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Short stature, Coloboma, Clinodactyly, Iris coloboma, Brachydactyly	OMIM:610023
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Pr...	ORPHA:1225
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polyd...	ORPHA:93271
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Antever...	OMIM:311900
Branchiootic Syndrome	Branchial fistula, Cleft palate, Lip pit, Micrognathia	ORPHA:52429
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Micrognathia, Underdeveloped nasal alae, Dental ma...	OMIM:269880
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Anteverted nares, Underdeveloped nasal alae, Meningocele, Glossoptosis, Chorioreti...	ORPHA:2031
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Micrognathia, Missing ribs, Hydrocephalus, Cleft palate, Low ...	OMIM:220210
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Underdeveloped nasal alae, Growth ...	ORPHA:217346
Meckel Syndrome	Encephalocele, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial...	ORPHA:564
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Short stature, Bilateral single transverse p...	ORPHA:1001
Stüve-Wiedemann Syndrome	Bowing of the long bones, Short stature, Camptodactyly of finger, Micromelia, Abnormality of the ...	ORPHA:3206
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, Anencephaly,...	OMIM:612284
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Underdeveloped nasal alae, Cleft palate, Webbed neck, Hydranencephaly, Short distal phalanx of fi...	OMIM:601355
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Branchiootic Syndrome 3	Branchial cyst, Commissural lip pit	OMIM:608389
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Depressed nasal brid...	OMIM:613443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Remnants of the hyaloid vascular system, Hydrocephalus, Retrognathia, Adducted thumb	OMIM:614643
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,...	OMIM:616007
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Congenital hip dislocation, Intestinal malrotation, Cleft pala...	OMIM:113650
Bilateral Perisylvian Polymicrogyria	Intrauterine growth retardation, Protruding tongue, Choanal atresia, Micrognathia	ORPHA:98889
Boomerang Dysplasia	Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na...	OMIM:112310
Fraser Syndrome	Encephalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Anal atresia, C...	ORPHA:2052
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, High pala...	ORPHA:3103
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulu...	OMIM:277170
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Convex nasal ridge, Short neck, Micrognathia, Tibial bowing, Coloboma, High pala...	ORPHA:251028
Sweeney-Cox Syndrome	Micrognathia, High palate, Short philtrum, 2-5 toe syndactyly, Median cleft palate, 2-4 finger sy...	OMIM:617746
Achondroplasia	Rhizomelia, Anteverted nares, Depressed nasal bridge, Bowing of the legs, Short proximal phalanx ...	ORPHA:15
Congenital Disorder Of Glycosylation, Type Iig	Single transverse palmar crease, Short neck, Micrognathia, Glossoptosis, High palate, Rhizomelia,...	OMIM:611209
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone...	OMIM:618961
Acromesomelic Dysplasia 4	Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R...	OMIM:619636
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Metaphyseal widening,...	ORPHA:93357
Abruzzo-Erickson Syndrome	Coloboma, Radioulnar synostosis, Short stature, Cleft palate	OMIM:302905
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Gillessen-Kaesbach-Nishimura Syndrome	Thickened nuchal skin fold, Ulnar deviation of the hand, Micrognathia, Short neck, Underdeveloped...	OMIM:263210
Carey-Fineman-Ziter Syndrome	Short stature, Aplasia/Hypoplasia of the tongue, Anteverted nares, Micrognathia, Aplasia of the p...	ORPHA:1358
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Anteverted nares, Tapered finger, Broad nasal tip, Thick lower ...	OMIM:300602
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Stevenson-Carey Syndrome	Anteverted nares, Underdeveloped nasal alae, Narrow mouth, Pierre-Robin sequence, Downturned corn...	OMIM:611961
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnormal metacarpal mo...	ORPHA:166100
Ogden Syndrome	Microretrognathia, Torticollis, Everted upper lip vermilion, Broad hallux, Underdeveloped nasal a...	ORPHA:276432
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Clinodact...	OMIM:113620
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, ...	OMIM:269860
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Low hanging columella, Proxim...	OMIM:184460
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Hypoplasia of the maxill...	OMIM:619142
Robinow Syndrome, Autosomal Dominant 3	Short neck, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f...	OMIM:616894
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Short stature, Abnormality of the dentition, Malabsorption, Underdevel...	ORPHA:2315
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A...	ORPHA:2750
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb undergrowth, L...	ORPHA:156728
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Missing ribs, Micrognathia, Hydrocephalus, Orofacial cleft...	ORPHA:3301
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger...	ORPHA:69085
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Hallermann-Streiff Syndrome	Natal tooth, Choanal atresia, Proportionate short stature, Micrognathia, Abnormality of the denti...	ORPHA:2108
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel...	OMIM:617604
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ...	ORPHA:251014
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Micrognathia, Absent thumb, Aplasia/Hypoplas...	ORPHA:1234
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Abnormal nasopharynx morphology, Choanal atresia, Spina bifi...	OMIM:192350
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Syndactyly, Short stature, Anteverted nares, Depr...	ORPHA:97360
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Short neck, Myelomeningocele, Non-midline cleft lip, Wide ...	ORPHA:1752
1Q41Q42 Microdeletion Syndrome	Short stature, Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous clef...	ORPHA:250999
Rapp-Hodgkin Syndrome	Syndactyly, Short stature, Depressed nasal bridge, Conical tooth, Cleft upper lip, Carious teeth,...	OMIM:129400
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Bor Syndrome	Branchial cyst, Retrognathia, Cleft palate	ORPHA:107
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat...	OMIM:619493
Oculodentodigital Dysplasia	Selective tooth agenesis, Clinodactyly, High palate, Joint contracture of the 5th finger, Microdo...	OMIM:164200
Pyknoachondrogenesis	Craniofacial hyperostosis, Micromelia, Short iliac bones, Abnormal iliac wing morphology, Depress...	ORPHA:3003
Acro-Renal-Mandibular Syndrome	Finger syndactyly, Hypoplasia of the ulna, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Cleft upper lip, Meningoencephalocele, Hydrocephalus, Clef...	OMIM:236670
Biemond Syndrome Type 2	Short stature, Hydrocephalus, Preaxial polydactyly, Coloboma, Delayed puberty	ORPHA:141333
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal f...	ORPHA:1836
Laron Syndrome	Limb undergrowth, Delayed menarche, Severe short stature, Short long bone	OMIM:262500
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Anteverted nares, Short neck, Depressed nasal ridge, Gingival overgrowth...	ORPHA:464288
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Short stature, Micrognathia, Underdeveloped nasal alae, Metaphys...	ORPHA:166035
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Short stature, Rocker bottom foot, Single transverse pal...	OMIM:272950
Catel-Manzke Syndrome	Single transverse palmar crease, Short neck, Micrognathia, Glossoptosis, High palate, Clinodactyl...	OMIM:616145
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Short neck, Bulbous nose, Wide mouth, Macroglossia, Coloboma, Everted low...	OMIM:616789
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Keutel Syndrome	Wide nose, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Recurrent sinusitis,...	ORPHA:85202
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul...	OMIM:616580
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Short stature, Short neck, Orofacial cleft, Wide mouth, Coloboma, Webbe...	OMIM:614583
Focal Dermal Hypoplasia	Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Anteriorly pla...	OMIM:305600
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Micromelia, Short neck, Postaxial hand polydactyly, Hypoplasia of the small in...	OMIM:200995
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Short neck, Micrognathia, Underdeveloped n...	OMIM:614230
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiphyses, Absent ...	OMIM:612813
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Wide nose, Exaggerated cupid's bow, Camptodactyly of finger, Micrognathia, Sho...	ORPHA:284160
Koolen-De Vries Syndrome	Arachnodactyly, Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, P...	ORPHA:96169
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Arachnodactyly, Short stature, Micrognathia, Underdeveloped nasal alae, Wide mouth, High palate, ...	OMIM:300986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia	OMIM:613150
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Short stature, Anteverted nares, Limited elbow movement, Limited wrist move...	OMIM:617809
Bainbridge-Ropers Syndrome	Arachnodactyly, Dental crowding, Prominent nasal bridge, Underdeveloped nasal alae, Long nose, Hi...	ORPHA:352577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Holoprosencephaly, Pulmonic stenosis	OMIM:253800
Branchio-Oculo-Facial Syndrome	Short stature, Broad nasal tip, Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, ...	ORPHA:1297
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal oral mucosa morphology, Camptodactyly of finger, Micrognathia, Long nose, High, narrow p...	ORPHA:1968
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Short stature, Prominent nasal bridge, Hamartoma of tongue, Mi...	ORPHA:2754
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp...	ORPHA:894
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Micrognathia, Hypo...	OMIM:209885
Distal Deletion 6P	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality of the dentition, ...	ORPHA:96125
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Hartnup Disorder	Glossitis, Short stature	OMIM:234500
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Single transverse palmar cre...	OMIM:300912
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo...	OMIM:154400
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Narrow nasal ridge, Micrognathia, Underdeveloped nasal alae, Long fingers, Thin ...	OMIM:618343
Poikiloderma With Neutropenia	Short stature, Depressed nasal bridge, Micrognathia, Carious teeth, Underdeveloped nasal alae, Lo...	OMIM:604173
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ...	OMIM:618356
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology, Short stature	ORPHA:2204
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Talipes equinovarus, Upper limb amyotrophy	ORPHA:496689
Oligomeganephronia	Branchial cyst, Hypertension, Optic disc coloboma, Micrognathia	ORPHA:2260
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Intrauterin...	OMIM:615665
Kbg Syndrome	Syndactyly, Tented upper lip vermilion, Short stature, Single transverse palmar crease, Macrodont...	OMIM:148050
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Cleft upper lip, Cleft palate, Hypertension, Talipes equinovarus, ...	OMIM:100300
Meier-Gorlin Syndrome 2	Short stature, Micrognathia, Underdeveloped nasal alae, Narrow mouth, Patellar aplasia, Birth len...	OMIM:613800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f...	ORPHA:508533
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Short stature, Prominent nasal bridge, Micrognat...	OMIM:300534
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Short neck, Tapered finger, Underdeveloped nasal alae, Bulbous nose, Wi...	OMIM:615803
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Single transverse palmar ...	ORPHA:96334
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Metaphyseal widening, Coxa vara, Genu varum, Rhizomelia, Anteverted nares,...	OMIM:271510
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Holoprosencephaly, Advanced eruption of te...	ORPHA:818
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Short stature, Absent thumb, Unilateral radial ap...	OMIM:614900
Arachnoid Cyst	Encephalocele, Hydrocephalus, Holoprosencephaly, Subarachnoid hemorrhage	ORPHA:2356
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate...	OMIM:276820
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Tented upper lip vermilion, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, High ...	OMIM:616158
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Short stature, Choanal atresia, Midnasal stenosis, Cleft upper l...	OMIM:147250
Meier-Gorlin Syndrome 6	Microretrognathia, Severe short stature, Sandal gap, Anteverted nares, Depressed nasal bridge, Un...	OMIM:616835
Simosa Craniofacial Syndrome	Underdeveloped nasal alae, Long nose, High, narrow palate, Narrow mouth, Wide nasal bridge, Depre...	OMIM:182150
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short stature, Frontal open bite, Micrognathia, Postnatal growth retardation, Short toe, Gingival...	OMIM:225410
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Rhizomelia, Short stature, Micromelia, Bowing of the legs, Femoral retrovers...	OMIM:610682
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Single naris, Short ribs, Chronic sinusitis	OMIM:615636
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Long palm, Arachnodactyly, Abnormality of the philtrum, Missing ribs, Aplasia/Hypoplasia of the t...	ORPHA:2759
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Hydrocephalus, Bulbous nose, Wide nasal brid...	ORPHA:250989
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Postnatal growth retardation, Abnormal tongue morphology, Hypoplas...	ORPHA:2457
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Decreased heart rate variability, Anteverted nares, Micrognathia, Depressed nasa...	OMIM:619005
Holoprosencephaly 7	Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Median cleft palate, Iris ...	OMIM:610828
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Kagami-Ogata Syndrome	Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathia, Long fingers, Hypoplasia of t...	OMIM:608149
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S...	OMIM:192445
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi...	ORPHA:3035
Gm1 Gangliosidosis	Mandibular prognathia, Short stature, Camptodactyly of finger, Depressed nasal bridge, Broad nasa...	ORPHA:354
Rabson-Mendenhall Syndrome	Mandibular prognathia, Wide nose, Short stature, Dental crowding, Anteverted nares, Abnormality o...	ORPHA:769
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Rhizomelia, Short neck, Absent nasal bridge, Mesomelia, Broad thumb, Brach...	ORPHA:171866
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic bone, Glossoptosis, Short long ...	ORPHA:93346
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Short stature, Micrognathia, Underdeveloped nasal alae, ...	OMIM:250410
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Congestive heart failure, Tibial bowing, Abnormal pelvic g...	OMIM:166210
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Holzgreve Syndrome	Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Cleft palate, Hand polydactyly, We...	ORPHA:2167
Ogden Syndrome	Redundant neck skin, Congenital hip dislocation, Short neck, Micrognathia, Deep philtrum, Ventric...	OMIM:300855
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis	OMIM:614876
Orofaciodigital Syndrome Iii	Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue nodules, Postaxial foot pol...	OMIM:258850
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Thin upper lip vermilion, Short stature, Rocke...	ORPHA:163979
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Downturned corners of mouth, ...	OMIM:136140
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Cleft upper lip, Hypoplasia of the maxilla, Partial duplic...	OMIM:164210
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Wide nasal bridg...	ORPHA:3241
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Short stature, Depressed nasal ridge, Limb undergrowth, Abnormal met...	ORPHA:1861
Dpm1-Cdg	Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Micrognathia, High, narrow palate...	ORPHA:79322
Joubert Syndrome 15	Coloboma, Preaxial polydactyly, Exencephaly	OMIM:614464
Spondyloepiphyseal Dysplasia Congenita	Short femur, Limited elbow movement, Short neck, Micrognathia, Disproportionate short-trunk short...	ORPHA:94068
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Hip dislocation, Wide nasal bridge, High palate, Limb undergrowth, Intrauterine gr...	OMIM:618005
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Prominent nose, Abnormal carpal morphology, Madelung deformity, Severe postnatal g...	ORPHA:319675
Alg9-Cdg	Villous atrophy, Short neck, Micrognathia, Narrow greater sciatic notch, Bifid uvula, Microretrog...	ORPHA:79328
Tarp Syndrome	Finger syndactyly, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Sin...	ORPHA:2886
Joubert Syndrome 8	Occipital encephalocele	OMIM:612291
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ...	OMIM:173800
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of...	ORPHA:531151
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Cleft palate, Anterior open-bit...	OMIM:602483
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of th...	ORPHA:2273
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Short stature, Humeroradial synost...	OMIM:134780
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Short stature, Bifid nasal tip, Bilateral cleft lip and palate, High pa...	OMIM:618874
Mandibuloacral Dysplasia Progeroid Syndrome	Micrognathia, Palmoplantar hyperkeratosis, High palate, Short philtrum, Tricuspid regurgitation, ...	OMIM:619127
Kinsship Syndrome	Mandibular prognathia, Single transverse palmar crease, Short neck, Micrognathia, Downturned corn...	OMIM:619297
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact...	OMIM:174300
Carey-Fineman-Ziter Syndrome 1	Anteverted nares, Depressed nasal bridge, Micrognathia, Tapered finger, Trismus, Broad nasal tip,...	OMIM:254940
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ...	ORPHA:1190
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar...	OMIM:163400
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Bowing of the legs, Raynaud phen...	ORPHA:1855
Marshall-Smith Syndrome	Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto...	OMIM:602535
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Prominent nose, Tibial bowing, Congenital bilateral hip disloca...	ORPHA:453510
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad hallux, Depressed nasal br...	OMIM:618019
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Pagod Syndrome	Encephalocele, Short stature, Spina bifida, Sudden cardiac death, Meningocele, Arrhythmia	ORPHA:991
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Thick lower lip vermilion, N...	OMIM:608624
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Cerebrocostomandibular Syndrome	Hydranencephaly, Short stature, Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Cleft ...	ORPHA:1393
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele	OMIM:614195
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Tricuspid regurgitation, Prominent nasal bridge, Downturned corners of mouth...	OMIM:618652
Short Stature, Microcephaly, And Endocrine Dysfunction	Short stature, Prominent nasal bridge, Broad nasal tip, Long nose, Dilated cardiomyopathy, Tooth ...	OMIM:616541
Restrictive Dermopathy	Natal tooth, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia involving the nose, Camptoda...	ORPHA:1662
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Microdontia, Advanced erupt...	OMIM:615873
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Short neck, Micrognathia, Coloboma, Short palm, Clinodactyly of the 5th fi...	ORPHA:508498
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Shoulder girdle muscle weakness, Tongue atrophy, Retinal telangiectasia	OMIM:158900
Knobloch Syndrome 2	Encephalocele, Pyloric stenosis, Enamel hypoplasia, Micrognathia	OMIM:618458
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Short stature, Overlapping toe, Rocker bottom foot, Tapered f...	ORPHA:488642
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Wide nasal...	OMIM:619124
Waardenburg-Shah Syndrome	Intestinal obstruction, Aganglionic megacolon, Prominent nasal bridge, Abnormality of the nose, U...	ORPHA:897
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Severe short stature, Rhizomelia, Bowing of the long bones, Me...	ORPHA:85167
Distal Deletion 15Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Finger clinodactyly,...	ORPHA:1596
Bazex-Dupre-Christol Syndrome	Low hanging columella, Underdeveloped nasal alae, Narrow nasal ridge, Furrowed tongue	OMIM:301845
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Anteriorly placed a...	OMIM:151050
Myoectodermal Gonadal Dysgenesis Syndrome	Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb, Underdeveloped...	OMIM:618419
Spondyloepimetaphyseal Dysplasia, Shohat Type	Severe short stature, Bowing of the legs, Short neck, Metaphyseal widening, Disproportionate shor...	ORPHA:93352
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Glossoptosis, Advanced eruption o...	ORPHA:828
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Depressed nasal bridge, Pyloric stenosis	ORPHA:1571
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Coloboma, Clinodactyly of t...	OMIM:167730
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Sh...	OMIM:618332
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Choanal sten...	OMIM:241310
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Broad nasal tip, Underdev...	ORPHA:438216
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Short neck, Bilateral cleft lip and palate, Clinodactyly of...	ORPHA:2001
Camptodactyly Syndrome, Guadalajara Type 3	Short neck, Broad nasal tip, Small hand, Retrognathia, Broad columella, Depressed nasal tip, Shor...	ORPHA:488434
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Acro-Renal-Ocular Syndrome	Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypoplasia of the ulna, Fin...	ORPHA:959
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Short stature, Micrognathia, Underdeveloped nasal alae, Short ...	ORPHA:264200
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus	OMIM:616155
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Mandibular prognathia, Tented upper lip vermilion, Short neck, High,...	ORPHA:488632
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Holoprosencephaly 2	Aplasia of the nasal bone, Median cleft lip and palate, Remnants of the hyaloid vascular system, ...	OMIM:157170
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly...	OMIM:616449
Choreoacanthocytosis	Dilated cardiomyopathy, Temporomandibular joint crepitus, Protruding tongue	ORPHA:2388
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, ...	OMIM:180849
Joubert Syndrome 5	Occipital encephalocele, Retinal coloboma, Cleft palate	OMIM:610188
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Intrauterine growth retardation, Single transverse palmar crease	ORPHA:79243
Waardenburg Syndrome	Intestinal obstruction, Aplasia/Hypoplasia of the colon, Aganglionic megacolon, Prominent nasal b...	ORPHA:3440
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Portal hypertension, Esophageal varix, Foot oligodactyly, Br...	OMIM:616589
Velocardiofacial Syndrome	Short stature, Abnormality of the hand, Underdeveloped nasal alae, Velopharyngeal insufficiency, ...	OMIM:192430
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Depressed nasal bridge, Congestive heart failure, Hydrocephalus...	OMIM:616482
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Wide nose, Tricuspid regurgitation, Short stature, Short neck, Underdev...	OMIM:617506
Knobloch Syndrome 1	Occipital encephalocele, Depressed nasal bridge, Pyloric stenosis, Bulbous nose, Occipital mening...	OMIM:267750
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Short stature, Partial duplic...	OMIM:101400
Pontocerebellar Hypoplasia, Type 1B	Growth delay, Tongue atrophy, Hip dislocation, Tongue fasciculations	OMIM:614678
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
X-Linked Intellectual Disability, Nascimento Type	Overlapping toe, Depressed nasal bridge, Underdeveloped nasal alae, Deep philtrum, Clubbing of to...	ORPHA:163956
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Intrauterine growth retardation, Short stature, Macular coloboma, Underdeveloped nasal alae	ORPHA:423479
Charcot-Marie-Tooth Disease, Type 4C	Hammertoe, Talipes equinovarus, Tongue fasciculations, Tongue atrophy	OMIM:601596
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Hallux valgus, Short stature, Cleft soft palate, Prominent nasal bridge, Ta...	ORPHA:268261
Cronkhite-Canada Syndrome	Intestinal polyposis, Tapered finger, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Cutis Laxa, Autosomal Recessive, Type Iiib	Narrow nasal ridge, Underdeveloped nasal alae, Pyloric stenosis, Elbow flexion contracture, Hip d...	OMIM:614438
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Coloboma, Cu...	OMIM:606851
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Allergic rhinitis, Hydrocephalus, 2-3 toe syndactyly, I...	OMIM:618162
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl...	ORPHA:2752
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Thin upper lip vermilion, Broad nasal tip, Underdeveloped nasal alae, Long philtrum, Smooth philt...	ORPHA:404473
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology, Syncope	ORPHA:97230
Lipoid Proteinosis	Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver...	ORPHA:530
Cranioectodermal Dysplasia 2	Short neck, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Syndactyly,...	OMIM:613610
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Coloboma, Bowing of the long bones, Odontogenic keratocyst...	ORPHA:199276
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Short stature, Tooth ...	OMIM:616229
Bohring-Opitz Syndrome	Short stature, Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Depressed nasal brid...	ORPHA:97297
Ablepharon Macrostomia Syndrome	Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Underdeveloped...	ORPHA:920
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Cleft palate, Choanal st...	ORPHA:1790
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nas...	ORPHA:2399
Coffin-Siris Syndrome 12	Micrognathia, High palate, Short stature, Anteverted nares, Depressed nasal bridge, Short thumb, ...	OMIM:619325
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Short stature, Anteverted nares, Choanal atresia, Micrognathia, Cleft lip, Bulbous no...	OMIM:616975
Gracile Bone Dysplasia	Short stature, Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Ankyloglossia, Brac...	OMIM:602361
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Redundant neck skin, Tented upper lip vermilion,...	ORPHA:2729
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Marcus-Gunn Syndrome	Choanal atresia, Postnatal growth retardation, Cleft lip, Cleft palate, Abnormality of the sense ...	ORPHA:91412
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Short stature, Camptodactyly of finger, Premature ...	ORPHA:2907
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Proportionate short stature, Micrognathia, Narrow mouth, Wide nasal bridg...	OMIM:613457
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Intracranial hemorr...	ORPHA:740
Ulbright-Hodes Syndrome	Short neck, Micrognathia, High palate, Phocomelia, Short metacarpal, Depressed nasal bridge, Hume...	ORPHA:3404
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Short neck, Ha...	ORPHA:434179
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Clubbing, Hematochezia, Hamartomatous polyposis, Clubbing of fingers, ...	OMIM:175500
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Short stature, Abnormal toe morphology, Abnormal finger morphology, ...	OMIM:163200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Abnormal dental morphology,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Abnormal dental morphology,...	ORPHA:363958
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Postnatal growth retardation, Unde...	ORPHA:435628
Waardenburg Syndrome, Type 1	Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Myelomeningocele, Wide nasal brid...	OMIM:193500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Coloboma, High palate, Syndactyly, Short stature, Broad hallux, Su...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Coloboma, High palate, Syndactyly, Short stature, Broad hallux, Su...	ORPHA:353277
Waardenburg Syndrome, Type 2A	Wide nasal bridge, Underdeveloped nasal alae	OMIM:193510
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Ramos-Arroyo Syndrome	Severe short stature, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious te...	ORPHA:1051
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia, ...	OMIM:618021
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognathia, Postnatal growth ...	ORPHA:83617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Occipital encephalocele, Communicating hydrocephalus, Hydrocephalus, Anencephaly	OMIM:615287
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Prominent nose, Supernumerary tooth, Underdeveloped nasal alae, Wide...	ORPHA:90024
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Coloboma, Short stature, Broad hallux, Supernumerary tooth, Talon cusp, Pulmonic...	ORPHA:353281
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Conical too...	OMIM:305100
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Kabuki Syndrome	Short stature, Abnormal dental morphology, Lip pit, Abnormality of the dentition, Hydrocephalus, ...	ORPHA:2322
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Smooth phil...	ORPHA:1973
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Short stature, Macrodontia, Micrognathia, Narrow...	OMIM:309500
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Charge Syndrome	Abnormal palmar dermatoglyphics, Micrognathia, Hand monodactyly, Coloboma, Holoprosencephaly, Iri...	OMIM:214800
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue fasciculations, Intrinsic hand muscle atrophy, Tongue atrophy	OMIM:620285
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, U...	OMIM:619426
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow...	OMIM:312870
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Long nose, Retrognathia, Depressed nasal bridge, Underdeveloped nasal alae	ORPHA:457351
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Short neck, Underdeveloped nasal alae, Rectal atresia, Cutaneo...	OMIM:617666
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow...	OMIM:615108
Lelis Syndrome	Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia	ORPHA:140936
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Short stature, Anteverted nares, Micrognathia, Congestive heart failure...	ORPHA:444077
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Gingiva...	OMIM:614098
Phakomatosis Pigmentokeratotica	Spina bifida, Raynaud phenomenon, Coloboma, Hemiatrophy, Arrhythmia	ORPHA:2874
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardat...	ORPHA:79284
X-Linked Agammaglobulinemia	Glossoptosis, Sinusitis, Short stature, Malabsorption	ORPHA:47
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow...	OMIM:615109
Faundes-Banka Syndrome	Thin upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Bulbous nose, Cleft palate, De...	OMIM:619376
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Short stature, Tracheoesophageal fistula, High palate, Talipes equinova...	OMIM:277380
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage,...	ORPHA:79282
Myopathy, Myofibrillar, 7	Elbow flexion contracture, Tongue atrophy, Shoulder flexion contracture, Talipes equinovarus	OMIM:617114
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow...	OMIM:158350
Warburg-Cinotti Syndrome	Dental crowding, Underdeveloped nasal alae, Elbow flexion contracture, Gingival overgrowth, Osteo...	OMIM:618175
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, A...	ORPHA:101085
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Hartnup Disease	Glossitis, Short stature, Gingivitis, Malabsorption	ORPHA:2116
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Mevalonic Aciduria	Short stature, Underdeveloped nasal alae	OMIM:610377
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Recurrent pharyngitis, Vasculitis, Cerebral ischem...	ORPHA:397
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, 2-3 toe syndactyly, Coloboma, Long philtrum, 3-4 finger syndactyly	OMIM:615877
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm...	ORPHA:1401
Acrodermatitis Enteropathica	Short stature, Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short...	OMIM:218330
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Ileus, Wide nasal bridg...	ORPHA:163746
Slc39A8-Cdg	Short stature, Elbow flexion contracture, Cutaneous syndactyly of toes, Disproportionate short-li...	ORPHA:468699
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Micrognathia, High, narrow palate, High palate, Broad uvu...	OMIM:619472
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Tongue atrophy, Tongue fasciculations	OMIM:211530
Johanson-Blizzard Syndrome	Colonic diverticula, Short stature, Single transverse palmar crease, Portal hypertension, Malabso...	OMIM:243800
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Micrognathia, Underdeveloped nasal alae, Supernumerary tooth, Concave nasal ridge, Ank...	OMIM:619525
Odontoonychodermal Dysplasia	Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of permanent teeth, Conical i...	OMIM:257980
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Hand oligodactyly	ORPHA:45358
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia...	OMIM:300373
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Short stature, Abnormality of the dentition, Carious tee...	ORPHA:158668
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper...	ORPHA:99956
Charcot-Marie-Tooth Disease Type 4C	Tongue atrophy, Hammertoe, Hip dysplasia, Tongue fasciculations, Difficulty in tongue movements	ORPHA:99949
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Upper limb amyotro...	ORPHA:466768
Psoriasis 14, Pustular	Geographic tongue, Furrowed tongue	OMIM:614204
Cowden Syndrome	Short stature, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, ...	ORPHA:201
Agel Amyloidosis	Tongue atrophy, Xerostomia, Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic ...	ORPHA:85448
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Oral mucosal blisters, Growth delay, Palmoplantar keratoderma, Smooth tongue, Enamel hypoplasia	ORPHA:79396
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Microdontia, Elbow flexion contracture, Oral leukoplakia, Furrowed tongue	OMIM:148210
Generalized Pustular Psoriasis	Congestive heart failure, Geographic tongue, Cheilitis	ORPHA:247353
Mucoepithelial Dysplasia, Hereditary	Melena, Erythematous oral mucosa, Corneal neovascularization, Furrowed tongue	OMIM:158310
Imerslund-Gräsbeck Syndrome	Tachycardia, Glossitis, Angular cheilitis	ORPHA:35858
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Kawasaki Disease	Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Recurrent pharyngitis, Cheilitis...	ORPHA:2331
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Palpitations, Ganglion...	ORPHA:653
Pachyonychia Congenita 3	Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l...	OMIM:615726
Microsporidiosis	Myocarditis, Rhinitis, Sinusitis, Glossitis	ORPHA:2552
Glucagonoma	Gastrointestinal hemorrhage, Intestinal obstruction, Steatorrhea, Stomatitis, Glossitis	ORPHA:97280
Plague	Chapped lip, Tachycardia, Hematemesis, Abnormality of the elbow, Enterocolitis, Inflammation of t...	ORPHA:707
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Congestive heart failure, Neoplasm of the rectum, H...	ORPHA:1359

Histopathology

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

There is no histopathology data for Nubp2

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 Nubp2.

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

Title	Journal	IMPC Allele	PubMed ID
Nubp2 is required for cranial neural crest survival in the mouse.	Developmental biology (November 2019)	Nubp2^{tm1c(EUCOMM)Hmgu} Nubp2^{tm1a(EUCOMM)Hmgu}	31733190

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Nubp2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Nubp2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Nubp2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

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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Gene: Nubp2 MGI:1347072

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Electrocardiogram (ECG)

X-ray

Human diseases caused by Nubp2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data