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Gene: Tbx15 MGI:1277234

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

T-box 15

Synonyms:

de, Tbx8, Tbx14

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tbx15 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 Tbx15 (2 diseases)
Human diseases predicted to be associated with Tbx15 (1857 diseases)

The table below shows human diseases associated to Tbx15 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pelviscapular Dysplasia		Low-set ears, Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of ...	ORPHA:93333
Cousin Syndrome		Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti...	OMIM:260660

The table below shows human diseases predicted to be associated to Tbx15 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Multi...	OMIM:607326
Fibrochondrogenesis 1	Thin ribs, Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad l...	OMIM:228520
Pelviscapular Dysplasia	Low-set ears, Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of ...	ORPHA:93333
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve...	OMIM:250460
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Conductive hearing impairment, Atresia of the external auditory...	OMIM:602471
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Fibrochondrogenesis	Low-set ears, Hypoplastic scapulae, Narrow chest, Proptosis, Micromelia, Abnormal diaphysis morph...	ORPHA:2021
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa...	ORPHA:1856
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir...	OMIM:132400
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Genu valgum, Broad foot, Pes planus, Sh...	ORPHA:93351
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu...	OMIM:619598
Multiple Epiphyseal Dysplasia Type 4	Low-set ears, Hypoplastic cervical vertebrae, Radial bowing, Abnormal earlobe morphology, Limitat...	ORPHA:93307
Acrodysostosis	Hearing impairment, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology...	ORPHA:950
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Atelosteogenesis, Type I	Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax...	OMIM:108720
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ...	OMIM:251450
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Double-layered patella, Hypoplasia of the femoral he...	OMIM:226900
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Sensorineural hearing impairmen...	OMIM:271700
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow ...	ORPHA:85166
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Micromelia, Flar...	OMIM:187601
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Skeletal muscle atrophy, Contractures of the large joints, Short femoral nec...	OMIM:616716
Isotretinoin Syndrome	Micrognathia, Spina bifida occulta, Biparietal narrowing, Sacral dimple, Microtia	ORPHA:2305
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormal form of the vertebral bodies, Micrognathia, Abnormal morphology of ulna,...	ORPHA:3104
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Microg...	OMIM:619135
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Low-set ears, Overlapping toe, Absent toenail, Absent fifth metata...	OMIM:620662
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short...	OMIM:601438
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum...	ORPHA:2831
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Achondrogenesis, Type Ia	Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp...	OMIM:200600
Brachydactyly, Type A1	Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h...	OMIM:112500
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal calvaria morphology, Synostosis of carpal bones, Finger syndactyly, Camptodactyly of fin...	ORPHA:1323
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Cousin Syndrome	Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti...	OMIM:260660
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long eyelashes, Ovoid vertebral bodies,...	OMIM:102370
Acromesomelic Dysplasia 4	Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Generalized hirsutism, ...	OMIM:619636
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Abnormal eyebrow mo...	ORPHA:969
Omodysplasia 2	Wide nasal bridge, Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic ar...	OMIM:164745
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Ruvalcaba Syndrome	Small hand, Narrow chest, Kyphosis, Micromelia, Limited elbow extension, Short foot, Short metata...	OMIM:180870
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Thoracic hypopla...	OMIM:187600
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Brachydactyly Type C	Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan...	ORPHA:93384
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal helix morphology, Synostosis of carpal bones, Finger syndactyly, Kyphosis, Short middle ...	ORPHA:1005
Saul-Wilson Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Micrognathia, Sensorineural hearing impai...	OMIM:618150
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Hearing impairment, Genu valgum, Micrognathia, Abnormal meta...	ORPHA:1452
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ...	ORPHA:958
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Sparse latera...	OMIM:190351
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Death in early adulthood, Sensorineural hearing impairment, Fem...	ORPHA:79107
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Long eyelashes, Thick eyebrow, Narrow nasal bridge, Micrognathia, Generalized ...	ORPHA:1514
Multiple Synostoses Syndrome 1	Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Proximal...	OMIM:186500
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Small nail, Genu valgum, Beaking of vertebral bodies, Thoracolumb...	OMIM:618853
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Osteoglophonic Dysplasia	Low-set ears, Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck...	OMIM:166250
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Narrow chest, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Sensori...	ORPHA:440354
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Smith-Mccort Dysplasia 2	Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Short neck, Pes planus, Bro...	OMIM:615222
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Paternal Uniparental Disomy Of Chromosome X	Low-set, posteriorly rotated ears, Low posterior hairline, Cubitus valgus, Short neck, Infertilit...	ORPHA:261524
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc...	ORPHA:3258
3M Syndrome	Thin ribs, Decreased fertility, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increas...	ORPHA:2616
Intellectual Disability, Buenos-Aires Type	Abnormal calvaria morphology, Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumbar...	ORPHA:3079
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormal pelvic girdle bone morphology, Abnormal s...	ORPHA:1988
Chondrodysplasia With Joint Dislocations, Gpapp Type	Hearing impairment, Genu valgum, Micrognathia, Intervertebral space narrowing, Patellar dislocati...	OMIM:614078
Pde4D Haploinsufficiency Syndrome	Hearing impairment, Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Hy...	ORPHA:439822
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:1263
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Short femoral neck, Knee dislocation, Joint hypermobility, Narrow verte...	OMIM:618395
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho...	ORPHA:1837
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Fair hair, Brachydactyly, Short metatarsal, Blue irides, Red hair, Advance...	OMIM:614613
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Low-set ears, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of verteb...	ORPHA:457395
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Pectus carinatum, Cone-shaped epiphysis, Sparse eyebrow, Camptoda...	ORPHA:77258
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Melnick-Needles Syndrome	Hypoplastic scapulae, Recurrent otitis media, Genu valgum, Micrognathia, Anterior concavity of th...	OMIM:309350
Brachydactyly-Preaxial Hallux Varus Syndrome	Wide nasal bridge, Broad thumb, Preaxial hand polydactyly, Radial club hand, Abnormal fingernail ...	ORPHA:1278
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co...	OMIM:151200
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Low-set ears, Hypoplastic cervi...	OMIM:114290
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Areas of hypopigmentation and hyperpigmentation that do no...	OMIM:210720
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel...	ORPHA:1350
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi...	OMIM:600920
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac...	OMIM:184260
Trichorhinophalangeal Syndrome, Type I	Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pes planus, Thin nail, S...	OMIM:190350
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Radioulnar synostosis, Anonychia, Hypoplasia of the radius, Hypoplasi...	OMIM:212780
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Limitation of joint mobility, ...	ORPHA:95699
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Lumba...	OMIM:169550
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Hypoplastic thumbnail, Short distal phalanx of finger, Broad thumb, Short distal phalanx of the t...	ORPHA:370010
Campomelic Dysplasia	Low-set ears, Hearing impairment, Micrognathia, Bowing of the long bones, Talipes equinovarus, Sh...	ORPHA:140
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Kyphosis, Skeletal muscle atrophy, M...	OMIM:248800
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, ...	OMIM:612350
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Micr...	ORPHA:3144
Exostoses, Multiple, Type Ii	Cervical myelopathy, Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, ...	OMIM:133701
Exostoses, Multiple, Type I	Cervical myelopathy, Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, ...	OMIM:133700
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Low-set ears, Osteopenia, Proximal femoral epiphysiolysis, Small epiphyses, Overla...	OMIM:616723
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Thick eyebrow, Radioulnar synostosis, Abnormal rib morpholog...	ORPHA:3268
Wahab Syndrome	Short thumb, Clinodactyly, Ankylosis, Adducted thumb, Camptodactyly, Short foot, Short metacarpal...	OMIM:615170
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Narrow chest, Proptosis, Micromelia, Hearing impairment, Joint s...	ORPHA:1860
Rhizomelic Chondrodysplasia Punctata, Type 2	Wide nasal bridge, Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calci...	OMIM:222765
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Lower limb asymmetry, Multiple enchondromatosis, Genu valgum, Metap...	ORPHA:85198
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Low-set ears, Short nail, Kyphosis, Short 4th toe, Short humerus, Short nec...	ORPHA:420794
Spondylometaphyseal Dysplasia, Corner Fracture Type	Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta...	OMIM:184255
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing...	ORPHA:1427
Atelosteogenesis Type Ii	Low-set ears, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valg...	ORPHA:56304
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Spondyloepiphyseal Dysplasia Congenita	Hearing impairment, Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest...	ORPHA:94068
Craniofrontonasal Dysplasia	Finger syndactyly, Low posterior hairline, Sprengel anomaly, Depressed nasal ridge, Ridged finger...	ORPHA:1520
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Acrorenal-Mandibular Syndrome	Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi...	OMIM:200980
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Wide nasal brid...	OMIM:617102
Ivic Syndrome	Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp...	OMIM:147750
Craniosynostosis 1	Oxycephaly, Scaphocephaly, Prominent occiput, Turricephaly, Sagittal craniosynostosis, Biparietal...	OMIM:123100
Cri-Du-Chat Syndrome	Low-set ears, Wide nasal bridge, Microretrognathia, Hearing impairment, Premature graying of hair...	OMIM:123450
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Decreased skull ossifi...	OMIM:616897
Frontometaphyseal Dysplasia	Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Hearing impairment...	ORPHA:1826
Chst3-Related Skeletal Dysplasia	Highly arched eyebrow, Rhizomelia, Sparse eyebrow, Abnormal form of the vertebral bodies, Irregul...	ORPHA:263463
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Pseudopseudohypoparathyroidism	Short 5th finger, Short distal phalanx of the thumb, Ectopic ossification, Short 5th metacarpal, ...	ORPHA:79445
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hearing impairment, Hypoplastic iliac wing, Micro...	OMIM:119600
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Flared metaphysis, Short 5th metacarpal, Short...	OMIM:156510
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Shor...	OMIM:611263
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Hypoplastic iliac win...	OMIM:609945
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy...	ORPHA:75508
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E...	OMIM:201250
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor...	OMIM:611717
Brachydactyly Type E	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br...	ORPHA:93387
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Platyspondyly, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu va...	OMIM:614134
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle, Short thumb, E...	ORPHA:968
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Wide nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia...	ORPHA:2256
Toluene Embryopathy	Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Microcephaly, Bipar...	ORPHA:1920
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Low-set ears, Small hand, Clinodactyly, Small nail, Deeply set eye, Oligozoospermia, Hyperteloris...	OMIM:614813
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Clinodactyly, Micrognathia, Hirsutism, Hypoplasia of the ulna, Hypertelorism, Synop...	ORPHA:357175
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness...	ORPHA:2249
Kyphomelic Dysplasia	Low-set ears, Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Ant...	OMIM:211350
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Decreased fertility, Abnormal morphology of ulna, Low posterior hairline, Short nec...	ORPHA:2233
Van Maldergem Syndrome 1	Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ...	OMIM:601390
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Small nail, Thumb c...	ORPHA:96334
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Fine hair, Thorac...	OMIM:614091
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Hearing impairment, Small nail, Micrognathia, 2-5 finger...	OMIM:308050
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Achondroplasia	Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Thor...	OMIM:100800
Brachydactyly, Type A1, B	Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S...	OMIM:607004
Heyn-Sproul-Jackson Syndrome	Sparse hair, 11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad me...	OMIM:618724
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Ulnar Hypoplasia With Impaired Intellectual Development	Absent toenail, Limited elbow movement, Talipes equinovarus, Limitation of knee mobility, Bilater...	OMIM:276821
Tetraploidy	Hypoplasia of the ear cartilage, Radial club hand, Micrognathia, Microcephaly, Biparietal narrowing	ORPHA:3305
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Posteriorly rotated ears, Clinodactyly of the 5th f...	ORPHA:228396
Dystonia-Deafness Syndrome 1	Sensorineural hearing impairment, Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis	OMIM:607371
Intellectual Developmental Disorder, Autosomal Recessive 35	Low-set ears, Clinodactyly, Micrognathia, Hirsutism, Hypoplasia of the ulna, Hypertelorism, Synop...	OMIM:615162
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec...	OMIM:271665
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Atresia of the external auditory canal, Shortening of all phalanges of fingers, Li...	OMIM:601356
Van Maldergem Syndrome 2	Clinodactyly, Hearing impairment, Atresia of the external auditory canal, Cutaneous finger syndac...	OMIM:615546
Zimmermann-Laband Syndrome 3	Wide nasal bridge, Short distal phalanx of finger, Facial hypertrichosis, Aplasia of the distal p...	OMIM:618658
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Wide nasal bridge, Micrognathia, Adducted thumb, Frontal bossing, Synophrys	ORPHA:3207
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Mietens-Weber Syndrome	Elbow flexion contracture, Pes planus, Dislocated radial head, Forearm undergrowth, Absent proxim...	OMIM:249600
Potocki-Shaffer Syndrome	Wide nasal bridge, Sparse lateral eyebrow, Underdeveloped nasal alae, Parietal foramina, Turricep...	OMIM:601224
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Elbow dislocat...	ORPHA:2633
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Broad foot, Short neck, Pes planus, Advanced ossification of c...	OMIM:615777
Van Bogaert-Hozay Syndrome	Abnormal hair morphology, Micrognathia, Osteolytic defects of the phalanges of the hand, Abnormal...	OMIM:277150
Short-Rib Thoracic Dysplasia 12	Low-set ears, Hypoplastic scapulae, Broad foot, Neonatal death, Short neck, Hypertelorism, Short ...	OMIM:269860
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Short toe, Flexion contracture, Intervertebral space...	OMIM:609162
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Pseudopseudohypoparathyroidism	Short neck, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal	OMIM:612463
Otopalatodigital Syndrome, Type Ii	Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers...	OMIM:304120
Craniodiaphyseal Dysplasia	Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Diaphyseal undertubulation,...	ORPHA:1513
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short 5th toe, Hypoplastic fifth fingernail, 2-3 toe syndactyly, ...	OMIM:614814
Atelosteogenesis Type I	Platyspondyly, Low-set ears, Rhizomelia, Narrow chest, Proptosis, Thoracic hypoplasia, Absent or ...	ORPHA:1190
Roifman-Chitayat Syndrome	Wide nasal bridge, Osteopenia, Cone-shaped epiphysis, Umbilical hernia, Short neck, Arthritis, Hy...	OMIM:613328
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Hearing impairment, Genu valgum, Bilateral single transverse palmar creases, B...	OMIM:143095
Jackson-Weiss Syndrome	Toe syndactyly, Proptosis, Preaxial foot polydactyly, Symphalangism affecting the phalanges of th...	ORPHA:1540
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ...	OMIM:268310
Cohen Syndrome	Lumbar hyperlordosis, Genu valgum, Micrognathia, Thick eyebrow, Single transverse palmar crease, ...	OMIM:216550
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Short nose, Micrognathia, Short humerus, Pat...	ORPHA:93328
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Small epiphyses, Abno...	OMIM:600969
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Talipes equinovarus, ...	ORPHA:2839
Ruvalcaba Syndrome	Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Kyph...	ORPHA:3121
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Peroneal muscle atrophy, Camptodactyly of finger, Abnormal foot morphology, Absent Achilles refle...	ORPHA:324442
Acrodysostosis 1 With Or Without Hormone Resistance	Hearing impairment, Long hallux, Narrow vertebral interpedicular distance, Hypertelorism, Calvari...	OMIM:101800
Greenberg Dysplasia	Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen...	OMIM:215140
Duane-Radial Ray Syndrome	Sensorineural hearing impairment, Aplasia of metacarpal bones, Pes planus, Small thenar eminence,...	OMIM:607323
Distal Deletion 10Q	Low-set ears, Clinodactyly, Micrognathia, Pes planus, Hip dislocation, Short nose, Prominent fing...	ORPHA:96148
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of t...	OMIM:600705
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Ectrodactyly, Radial club hand...	ORPHA:2878
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm...	OMIM:227270
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,...	OMIM:609052
Zechi-Ceide Syndrome	Low-set ears, Short distal phalanx of finger, Abnormal helix morphology, Wide nasal bridge, Condu...	ORPHA:217017
Lamb-Shaffer Syndrome	Wide nasal bridge, Depressed nasal bridge, Pectus carinatum, Clinodactyly, Long hallux, Overlappi...	OMIM:616803
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ...	ORPHA:2491
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Hypertelorism, ...	OMIM:311300
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Synophrys, Brachyd...	OMIM:605282
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal	OMIM:112410
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me...	OMIM:609324
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Cornelia De Lange Syndrome 2	Highly arched eyebrow, Small hand, Clinodactyly, Postnatal growth retardation, Long eyelashes, Th...	OMIM:300590
Martsolf Syndrome 1	Low-set ears, Micrognathia, Abnormal toenail morphology, Low posterior hairline, Talipes equinova...	OMIM:212720
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Crumpled ear, Abnormal epiphy...	ORPHA:1458
Macrocephaly, Benign Familial	Dolichocephaly, Biparietal narrowing, Frontal bossing, Macrocephaly	OMIM:153470
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Roifman Syndrome	Biconvex vertebral bodies, Short toe, Prominent eyelashes, Recurrent otitis media, Irregular femo...	OMIM:616651
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila...	ORPHA:1972
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Hypoplasia of the antihelix, Short thumb, Hearing impairment, Abnormal antihelix morphology, Shor...	ORPHA:2489
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Small hand, Toe syndactyly, Scoliosis, Slender long bone, Micrognathia, Joint hyper...	OMIM:170390
Acromesomelic Dysplasia, Maroteaux Type	Acromesomelia, Abnormal form of the vertebral bodies, Vertebral wedging, Bowing of the long bones...	ORPHA:40
Bartsocas-Papas Syndrome 1	Low-set ears, Hypoplastic scapulae, Small nail, Hypoplastic iliac wing, Alopecia totalis, Microgn...	OMIM:263650
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Proptos...	OMIM:215150
Acromegaloid Facial Appearance Syndrome	Highly arched eyebrow, Short 5th metacarpal, Micrognathia, Joint hypermobility, Large hands, Syno...	OMIM:102150
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Highly arched eyebrow, Toe syndactyly, Short thumb, Abnormal eyebr...	ORPHA:2319
Rubinstein-Taybi Syndrome 2	Highly arched eyebrow, Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short ...	OMIM:613684
Catel-Manzke Syndrome	Highly arched eyebrow, Abnormal epiphysis morphology, Camptodactyly of finger, Low-set, posterior...	ORPHA:1388
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Vertebral segmentation defect, Microcephaly, Bip...	ORPHA:1915
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone...	OMIM:613848
Trigonocephaly 2	Wide nasal bridge, Depressed nasal bridge, Trigonocephaly	OMIM:614485
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Wide nasal bridge, High anterior hairline, Broad nasal tip, Thick nasal alae, Thin eyebrow, Clino...	OMIM:618147
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal fingern...	ORPHA:1275
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Short humerus, Short ribs, Sensorineura...	OMIM:607143
Jackson-Weiss Syndrome	Coronal craniosynostosis, Proptosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Br...	OMIM:123150
Zechi-Ceide Syndrome	Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Small nail, Long foot, Short metat...	OMIM:612916
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Scoliosis, Sandal gap, Abnormal earlobe morphology, Camptodactyly of ...	ORPHA:85293
Alagille Syndrome	Short distal phalanx of finger, Abnormal form of the vertebral bodies, Micrognathia, Vertebral se...	ORPHA:52
Mietens Syndrome	Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph...	ORPHA:2557
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa...	OMIM:309630
Opsismodysplasia	Low-set ears, Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Anterior rib cu...	OMIM:258480
Shashi-Pena Syndrome	Low-set ears, Highly arched eyebrow, Kyphosis, Cupped ear, Proptosis, Hypertrichosis, Long eyelas...	OMIM:617190
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death...	OMIM:314390
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal	OMIM:113301
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:113400
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Talipes equinovarus, Beaki...	OMIM:150250
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,...	ORPHA:3320
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Crumpled ear, Clinodactyly, Hearing impairment, Small nail, Frontal upsweep of hair, Deeply set e...	OMIM:620494
Acrootoocular Syndrome	Low-set ears, Atresia of the external auditory canal, Abnormal earlobe morphology, Micrognathia, ...	ORPHA:2980
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Crum...	OMIM:600373
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Wide nasal bridge, Clinodactyly, ...	ORPHA:166024
Pitt-Hopkins Syndrome	Small hand, Clinodactyly, Supernumerary nipple, Overlapping toe, Frontal upsweep of hair, Deeply ...	OMIM:610954
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Low-set ears, Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, ...	OMIM:266920
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st...	OMIM:182255
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Retrognathia, Hypoplastic pelvis, Short clavicles, Bowed humerus	OMIM:618022
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Sensorine...	ORPHA:959
Desbuquois Syndrome	Genu recurvatum, Sparse hair, Small hand, Patellar dislocation, Proptosis, Elbow dislocation, Cam...	ORPHA:1425
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Fibrodysplasia Ossificans Progressiva	Abnormal vertebral morphology, Synostosis of joints, Alopecia, Limitation of joint mobility, Hear...	ORPHA:337
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Abnormal form of the v...	ORPHA:3098
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Proptosis, Abnormal form of the vertebral bodies, Low-set...	ORPHA:2370
Congenital Heart Defects And Ectodermal Dysplasia	2-3 toe cutaneous syndactyly, Depressed nasal bridge, High anterior hairline, Broad thumb, Anteve...	OMIM:617364
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Small nail, Talipes equinovalgus, Fibular...	OMIM:228900
Pseudohypoparathyroidism, Type Ia	Short toe, Short finger, Hypogonadism, Short neck, Subcutaneous ossification, Brachydactyly, Oste...	OMIM:103580
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Brachydactyly, Metacarpal synostosis	ORPHA:35099
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Brachydactyly, Type E2	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:613382
Acrofacial Dysostosis, Palagonia Type	Low-set ears, Small hand, Abnormal form of the vertebral bodies, Finger syndactyly, Sparse latera...	ORPHA:1787
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hearing impairment, Increased bone mineral density, Recurrent fractures, Barrel-shape...	OMIM:239000
Frontometaphyseal Dysplasia 2	Low-set ears, Broad thumb, Decreased muscle mass, Hip contracture, Sensorineural hearing impairme...	OMIM:617137
Brachydactyly, Type E1	Type E brachydactyly, Short clavicles, Brachydactyly, Straight clavicles, Short metatarsal, Short...	OMIM:113300
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri...	OMIM:612447
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa...	OMIM:619638
Tetrasomy X	Premature ovarian insufficiency, Joint hypermobility, Radioulnar synostosis, Brachydactyly, Hip d...	ORPHA:9
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment, Fractures of the long bones, Sandwich appearance of vert...	OMIM:602080
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Cubi...	ORPHA:314795
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb...	ORPHA:79106
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Sparse scalp hair, Radial bowing, Carpal synostosis, Genu valgum, Micrognat...	OMIM:271640
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s...	OMIM:613091
Linear Verrucous Nevus Syndrome	Genu recurvatum, Toe syndactyly, Reduced bone mineral density, Talipes, Scoliosis, Short metacarp...	ORPHA:2611
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S...	OMIM:272460
Melnick-Needles Syndrome	Craniofacial hyperostosis, Hearing impairment, Micrognathia, Bowing of the long bones, Hypertelor...	ORPHA:2484
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Pectus carinatum, Macroglossia, Arthrogryposis multiplex congenit...	OMIM:618143
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Postaxial Acrofacial Dysostosis	Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p...	ORPHA:246
16Q24.3 Microdeletion Syndrome	Hearing impairment, Micrognathia, Protruding ear, Biparietal narrowing, Hip dysplasia, Chronic ot...	ORPHA:261250
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys...	OMIM:617719
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnormality of the knee, Pr...	ORPHA:99642
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies	Wide nasal bridge, Broad nasal tip, Flattened knee epiphyses	OMIM:600093
Anauxetic Dysplasia 2	Sparse hair, Posterior wedging of vertebral bodies, Small nail, Flexion contracture, Hypoplasia o...	OMIM:617396
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
3Q29 Microduplication Syndrome	Low-set ears, Toe syndactyly, Sandal gap, Hearing impairment, Camptodactyly of toe, Microcephaly,...	ORPHA:251038
Postaxial Acrofacial Dysostosis	Low-set ears, Congenital hip dislocation, Cupped ear, Short thumb, Supernumerary vertebrae, Abnor...	OMIM:263750
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Hearing impairment, Micrognathia, Hypertelorism, Short foot, Parti...	OMIM:600383
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Hypopigmentation of the skin, Short 1st metacarpal, Short first m...	OMIM:601957
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Fetal Akinesia Deformation Sequence 4	Low-set ears, Wide nasal bridge, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, 11 ...	OMIM:618393
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Pectus carinatum, Osteopenia, Short iliac bones, Flattened proximal radial epiphys...	OMIM:271530
Intellectual Disability, Wolff Type	Wide nasal bridge, Short distal phalanx of finger, Broad thumb, Microretrognathia, Limitation of ...	ORPHA:3080
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
W Syndrome	Abnormality of the scalp hair, Clinodactyly, Radial bowing, Elbow dislocation, Pes cavus, Cubitus...	ORPHA:2804
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Bowing of the long bones, Short metacarpal, Ovoid vertebral bodies, Hypoplastic ...	ORPHA:85167
Monosomy 5P	Wide nasal bridge, Small hand, Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated...	ORPHA:281
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob...	ORPHA:93284
8P23.1 Microdeletion Syndrome	Low-set ears, Broad thumb, Enlarged thorax, Micrognathia, Microcephaly, Short neck, Biparietal na...	ORPHA:251071
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Death in early adulthood, Sensorineural hearing impairment, Pes planus...	ORPHA:192
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Low posterior hairline, Short 4th metacarpal, Cubitus valgus, Short neck, Sparse fac...	ORPHA:2183
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Wide nasal bridge, Horizontal eyebrow, Clinodactyly, Anteverted nares, 2-3 toe syndactyly	OMIM:619311
Catel-Manzke Syndrome	Low-set ears, Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Talipes equinovarus, ...	OMIM:616145
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Hearing impairment, Genu valgum, Intervertebral space narrowing, Re...	ORPHA:166011
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Depressed nasal bridge,...	ORPHA:2097
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Brachycephaly, Convex nasal ridge, Pectus excavatum, Fronta...	ORPHA:1695
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Low-set ears, Microcephaly, Biparietal narrowing, Scoliosis, Kyphosis	ORPHA:261190
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Patellar hypoplasia, Sensorineural hearing impairment, Deeply set eye, Short neck, Brachydactyly,...	ORPHA:464288
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Protruding ear, Microcephaly, Scoliosis, Biparietal narrowing	ORPHA:2518
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Micrognathia, Bowing of th...	ORPHA:628
Occipital Horn Syndrome	Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Coarse hair, Broad ribs, Genu val...	OMIM:304150
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Kyphosis, Hirsutism, Talipes equinovarus, Hypertelorism, Short foot, Scoliosis, Hip d...	OMIM:300434
2Q31.1 Microdeletion Syndrome	Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal hair morphol...	ORPHA:251014
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Micrognath...	OMIM:210710
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle...	ORPHA:163665
Femoral-Facial Syndrome	Low-set ears, Toe syndactyly, Micrognathia, Humeroradial synostosis, Encephalocele, Limited elbow...	OMIM:134780
Baller-Gerold Syndrome	Abnormal vertebral morphology, Low-set ears, Lambdoidal craniosynostosis, Carpal synostosis, Micr...	OMIM:218600
Chromosome 2Q37 Deletion Syndrome	Highly arched eyebrow, Short toe, Type E brachydactyly, Sensorineural hearing impairment, Deeply ...	OMIM:600430
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Breast hypoplasia, Postaxia...	OMIM:181450
Pseudohypoparathyroidism, Type Ic	Hypogonadism, Short neck, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal	OMIM:612462
Blomstrand Lethal Chondrodysplasia	Platyspondyly, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morphology,...	ORPHA:50945
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Plagiocephaly, Clinodactyly, Long eyelashes, Anteverted nares, Micrognathia, U...	OMIM:618577
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Low-set ears, Foot oligodactyly, Amelia, Anterior encephalocele, Scoliosis, Short femur	OMIM:601357
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Wide nasal bridge, Abnormality of the nail, Short finger, Hypere...	OMIM:313420
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Osteopenia, Toenail dysplasia, Conductive hearing impairment, Sandal gap, Short toe...	OMIM:617877
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Prominent fingertip pads, Hearing impairment, Absent earlobe, Overlapping toe, Bilateral camptoda...	OMIM:619557
Acheiropody	Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Moebius Syndrome	Hand clenching, Clinodactyly, Congenital fibrosis of extraocular muscles, Micrognathia, Lower lim...	OMIM:157900
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Brachydac...	ORPHA:1770
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Biparietal narrowing, Brachydactyly	ORPHA:1581
Adenylosuccinate Lyase Deficiency	Brachycephaly, Anteverted nares, Short nose, Flat occiput	ORPHA:46
Pelger-Huet Anomaly	Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Short 5th metacarpal, Recurrent o...	OMIM:169400
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Recurrent otitis media, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femo...	OMIM:608940
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Low-set ears, Lambdoidal craniosynostosis, Osteopenia, Ankle clonus, Hypoplasia of the ulna, Oste...	OMIM:615398
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Narrow palm, Hypogonadotropic hy...	ORPHA:177910
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Sensorineural hearing impairment, Beaking of vertebral bodies, Pes planus...	OMIM:609616
Intellectual Developmental Disorder, Autosomal Dominant 23	Wide nasal bridge, Depressed nasal bridge, Broad distal phalanx of finger, Sandal gap, Bulbous no...	OMIM:615761
Cranioectodermal Dysplasia 1	Low-set ears, Clinodactyly, Broad distal phalanges of all fingers, Broad toe, Flattened epiphysis...	OMIM:218330
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Proptosis, Thoracic pla...	OMIM:618961
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormal rib cage morphology, Abnormality of carpal bone ossification, Osteopenia, Genu valgum, L...	OMIM:608154
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Hyp...	ORPHA:3210
Joubert Syndrome	Low-set ears, Abnormal form of the vertebral bodies, Hand polydactyly, Biparietal narrowing, Foot...	ORPHA:475
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Humero-Radio-Ulnar Synostosis	Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Elbow ankylosi...	ORPHA:3266
1Q44 Microdeletion Syndrome	Frontal bossing, Micrognathia, Microcephaly, Biparietal narrowing, Scoliosis	ORPHA:238769
Epiphyseal Dysplasia, Multiple, 6	Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ...	OMIM:614135
Cornelia De Lange Syndrome 5	Highly arched eyebrow, Small hand, Toe syndactyly, Broad nasal tip, Depressed nasal bridge, Postn...	OMIM:300882
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Wide nasal bridge, Cleft ala nasi, Convex nasal ridge, Underdeveloped nasal alae	ORPHA:2007
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Malar flattening, Microcephaly, Brachycephaly, Brachydactyly, Clinodactyly of th...	ORPHA:1292
Weaver Syndrome	Broad thumb, Finger syndactyly, Micrognathia, Broad foot, Talipes equinovarus, Large hands, Hyper...	ORPHA:3447
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Low-set ears, Flared metaphysis, Broad long bones,...	ORPHA:2347
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Low-set, posteriorly r...	ORPHA:2631
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Multiple Osteochondromas	Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,...	ORPHA:321
2Q37 Microdeletion Syndrome	Highly arched eyebrow, Small hand, Toe syndactyly, Conductive hearing impairment, Finger syndacty...	ORPHA:1001
C Syndrome	Low-set ears, Wide nasal bridge, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polyda...	OMIM:211750
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single ...	OMIM:216340
Steinfeld Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Hearing impairment, Missing r...	OMIM:184705
Mosaic Trisomy 9	Low-set ears, Scoliosis, Micromelia, Finger clinodactyly, Camptodactyly of finger, Prominent occi...	ORPHA:99776
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Low-set ears, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal cl...	ORPHA:93267
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Congenital diaph...	ORPHA:2911
Joubert Syndrome With Ocular Defect	Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Hand polydactyly, Biparietal na...	ORPHA:220493
Holzgreve Syndrome	Macrotia, Low-set, posteriorly rotated ears, Joint stiffness, Abnormal morphology of ulna, Hand p...	ORPHA:2167
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Abnormal bone ossification, Hypertelorism, Flattened epiphysis, Flat ac...	ORPHA:163649
2Q32Q33 Microdeletion Syndrome	Toe clinodactyly, Broad thumb, Fine hair, Anteverted nares, Prominent nasal bridge, Micrognathia,...	ORPHA:251019
Nicolaides-Baraitser Syndrome	Dry hair, Broad 2nd toe, Low posterior hairline, Absent eyebrow, Sparse hair, Short metacarpal, S...	OMIM:601358
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S...	ORPHA:166016
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Trisomy 4P	Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Low-set, posteriorly rotate...	ORPHA:1738
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Platyspondyly, Osteopenia, Hyperconvex toenail, Fractures of the long bones...	ORPHA:319195
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hearing impairment, Atresia of the external auditory canal, Foot polydactyly, Vertebral segmentat...	ORPHA:3186
Chromosome 3Pter-P25 Deletion Syndrome	Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Broad nasal tip, Flat occiput, ...	OMIM:613792
Otopalatodigital Syndrome Type 1	Wide nasal bridge, Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation,...	ORPHA:90650
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Wide nasal bridge, Broad nasal tip, Clinodactyly, Pectus excavatum, Short palm	ORPHA:73273
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Abnormal rib morphology, Micrognathia, Turricephaly, Brachycephaly...	ORPHA:2145
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod...	ORPHA:429
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Atresia of the external auditory canal, ...	OMIM:614900
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Joubert Syndrome With Oculorenal Defect	Low-set, posteriorly rotated ears, Hand polydactyly, Biparietal narrowing, Foot polydactyly, Scol...	ORPHA:2318
Distal Duplication 5Q	Low-set ears, Absent thumb, Short nose, Micrognathia, Hypoplasia of the ulna, Hypoplasia of the r...	ORPHA:96097
Intellectual Developmental Disorder, Autosomal Recessive 74	Wide nasal bridge, Dolichocephaly, Prominent nose, Brachydactyly	OMIM:617169
Pentasomy X	Wide nasal bridge, Small hand, Plagiocephaly, Camptodactyly of finger, Micrognathia, Radioulnar s...	ORPHA:11
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum...	OMIM:276820
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Ring Chromosome 6 Syndrome	Wide nasal bridge, Short distal phalanx of finger, Low posterior hairline, Short neck, Hypertelor...	ORPHA:1448
Nivelon-Nivelon-Mabille Syndrome	Narrow chest, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebral b...	OMIM:600092
Gómez-López-Hernández Syndrome	Toenail dysplasia, Anteverted nares, Alopecia of scalp, Turricephaly, Brachycephaly	ORPHA:1532
Velo-Facial-Skeletal Syndrome	Wide nasal bridge, Prominent fingertip pads, Abnormal thumb morphology, Large hands, Clinodactyly...	ORPHA:3424
Cutis Laxa, Autosomal Recessive, Type Iie	Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Copper beaten skull, Short thorax, Lon...	OMIM:619451
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Plagiocephaly, Clinodactyly, Short middle phalanx of toe, ...	OMIM:602849
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Low-set ears, Sparse scalp hair, Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar sy...	OMIM:130070
Waardenburg Syndrome, Type 3	Wide nasal bridge, Hypopigmented skin patches, Clinodactyly, Premature graying of hair, Partial a...	OMIM:148820
Potocki-Shaffer Syndrome	Broad nasal tip, Parietal foramina, Underdeveloped nasal alae, Depressed nasal tip, Micrognathia,...	ORPHA:52022
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Senso...	ORPHA:2790
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Cone-shaped epiphysis, Narrow nasal bridge, Abnormal thumb morphology, Brachycephaly, Abnormal me...	ORPHA:2511
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Wide nasal bridge, Cupped ear, Ocular albinism, Micrognathia, Aplasia/Hypoplasia of the thumb, Hy...	ORPHA:1352
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short finger, Elbow flexion contracture, Spinal canal stenosis, Lumb...	OMIM:608328
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Depressed nasal ridge, Small hand, Plagiocephaly, Anteverted nares, Prominent occiput, Low poster...	OMIM:618672
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fifth metatarsal, Increased carrying angle, Alopecia, Small nail, Sparse lateral eyebrow, R...	OMIM:261990
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Pr...	ORPHA:380
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Broad femoral neck, Proptosis, Flexion contracture, Abnormal metaphysi...	ORPHA:157965
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Sh...	ORPHA:1801
Lig4 Syndrome	Micrognathia, Microcephaly, Brachycephaly, Clinodactyly of the 5th finger, Biparietal narrowing	ORPHA:99812
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Low-set ears, Wide nasal bridge, Narrow chest, Thoracic hypoplasia, Hypertrichosis, Trident pelvi...	OMIM:619479
Peho Syndrome	Malar flattening, Microcephaly, Biparietal narrowing, Abnormal pinna morphology, Macrotia, Tapere...	ORPHA:2836
Acrocephalopolydactyly	Genu recurvatum, Thoracic hypoplasia, Short neck, Limb undergrowth, Brachydactyly, Short long bon...	ORPHA:221054
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Wide nasal bridge, Depressed nasal bridge, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly...	OMIM:620073
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Apl...	ORPHA:93258
Distal 22Q11.2 Microduplication Syndrome	Low-set ears, Mandibular prognathia, Toe syndactyly, Abnormal helix morphology, Camptodactyly of ...	ORPHA:261337
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Abnormal form of the vertebral bodies, Low-set, post...	ORPHA:1597
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Low-set ears, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib...	OMIM:300232
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Waardenburg Syndrome, Type 2A	Wide nasal bridge, Underdeveloped nasal alae, Premature graying of hair, Partial albinism, White ...	OMIM:193510
Muenke Syndrome	Coronal craniosynostosis, Cone-shaped epiphysis, Plagiocephaly, Hypopigmented skin patches, Carpa...	ORPHA:53271
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Hand polydactyly, Scoliosis, Biparietal narrowing	ORPHA:220497
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Macrotia, Reduced bone mineral density, Posteriorly rotated ears, Brachydactyly...	OMIM:618392
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Hidrotic Ectodermal Dysplasia	Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse...	ORPHA:189
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Charlie M Syndrome	Wide nasal bridge, Finger syndactyly, Abnormal fingernail morphology, Micrognathia, Abnormal toen...	ORPHA:1406
Ulbright-Hodes Syndrome	Thin ribs, Low-set ears, Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeror...	ORPHA:3404
Metatropic Dysplasia	Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Micromelia, Hypoplastic cervical v...	ORPHA:2635
Camurati-Engelmann Disease	Limitation of joint mobility, Hearing impairment, Abnormal tibia morphology, Genu valgum, Pes pla...	ORPHA:1328
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Bulbous nose, Hypoplasia of the odontoid process, Wide nasal bridge	OMIM:612913
Fibrous Dysplasia Of Bone	Hearing impairment, Osteomalacia, Abnormal tibia morphology, Large cafe-au-lait macules with irre...	ORPHA:249
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Reduced sperm motility, Proximal fe...	OMIM:602271
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Schwartz-Jampel Syndrome, Type 1	Low-set ears, Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bo...	OMIM:255800
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Vertebral wedging, Thoracic hypop...	OMIM:617866
Congenital Arthrogryposis With Anterior Horn Cell Disease	Low-set ears, Hand clenching, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Microg...	OMIM:611890
Steel Syndrome	Wide nasal bridge, Carpal synostosis, Lumbar hyperlordosis, Pes cavus, Limited elbow extension, S...	OMIM:615155
Craniodiaphyseal Dysplasia, Autosomal Dominant	Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Thickened ribs, Choanal ste...	OMIM:122860
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, Protruding ear, Biparietal nar...	ORPHA:2031
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Low-set ears, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,...	OMIM:151210
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Midclavicular aplasia, Supernumerary nipple, Absent toenail, Congen...	OMIM:305600
Camptodactyly Syndrome, Guadalajara Type 1	Highly arched eyebrow, Short distal phalanx of finger, Toe syndactyly, Depressed nasal bridge, Sh...	ORPHA:1327
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Postaxial foot polydactyly, Syndactyly, Y-shaped metatarsals, Preaxial hand polydact...	OMIM:175700
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Low-set ears, Hearing impairment, Subluxation of the small joints ...	ORPHA:536471
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Slender long bones with narrow diaphyses, Sensorineural hearing impairment, Osteopenia, Dense met...	ORPHA:50811
Aminopterin Syndrome Sine Aminopterin	Highly arched eyebrow, Clinodactyly, Short thumb, Micrognathia, Frontal upsweep of hair, Thoracic...	OMIM:600325
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal hair ...	ORPHA:3082
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ...	OMIM:620076
Clark-Baraitser Syndrome	Depressed nasal bridge, Sandal gap, Clinodactyly, Anteverted nares, Brachycephaly, Dolichocephaly...	OMIM:617752
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Pectus carinatum, Toe syndactyly, Anteverted nares, Short columella, Micr...	ORPHA:171839
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Narrow chest, Micromelia, Increased skull ossification, B...	ORPHA:1422
Cebalid Syndrome	Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ridge, Plagiocephaly, Platystencep...	OMIM:618774
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypotelorism, Hypop...	OMIM:602418
Monosomy 18Q	Mandibular prognathia, Bilateral conductive hearing impairment, Kyphoscoliosis, Arachnodactyly, M...	ORPHA:1600
Stuve-Wiedemann Syndrome 2	Thoracic hypoplasia, Neonatal death, Bowing of the long bones, Death in adolescence, Short long b...	OMIM:619751
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Craniosynostosis	OMIM:614416
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca...	ORPHA:79444
Fibrodysplasia Ossificans Progressiva	Alopecia, Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Conductive h...	OMIM:135100
Orofaciodigital Syndrome Type 6	Conductive hearing impairment, Finger clinodactyly, Preaxial polydactyly, Frontal bossing, Low-se...	ORPHA:2754
Hand-Foot-Genital Syndrome	Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Small ...	OMIM:140000
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon...	OMIM:102510
Omodysplasia 1	Wide nasal bridge, Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion...	OMIM:258315
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence...	OMIM:268305
Cerebrocostomandibular Syndrome	Posterior rib gap, Congenital hip dislocation, Low-set ears, Conductive hearing impairment, Thora...	OMIM:117650
Kuskokwim Syndrome	Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo...	ORPHA:1149
Pitt-Hopkins Syndrome	Small hand, Abnormal helix morphology, Hypopigmented skin patches, Finger clinodactyly, Supernume...	ORPHA:2896
Autosomal Recessive Omodysplasia	Low-set ears, Rhizomelia, Elbow dislocation, Micromelia, Short nose, Abnormal femur morphology, M...	ORPHA:93329
Cardiofaciocutaneous Syndrome	Hypoplasia of the zygomatic bone, Frontal bossing, Low-set, posteriorly rotated ears, Genu valgum...	ORPHA:1340
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hearing impairment, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, ...	OMIM:618363
Rothmund-Thomson Syndrome	Small nail, Alopecia totalis, Aplasia/Hypoplasia of the patella, Sparse eyelashes, Calcinosis, Sp...	ORPHA:2909
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Hearing impairment, Abnormal thoracic spine morpholog...	ORPHA:46059
Intellectual Developmental Disorder, Autosomal Dominant 26	Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Anteverted nares, Thick eyebrow...	OMIM:615834
Orofaciodigital Syndrome Xviii	Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Cervical rib...	OMIM:617927
Acrofacial Dysostosis Syndrome Of Rodriguez	Low-set ears, Absent forearm, Wide nasal bridge, Short tibia, Clinodactyly, Oligodactyly, Overlap...	OMIM:201170
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Wide nasal bridge, Pectus carinatum, Small hand, Clinodactyly, Thick eyebrow, Overfolded helix, W...	OMIM:614684
Ring Chromosome 1 Syndrome	Wide nasal bridge, Clinodactyly of the 5th finger, Abnormal hair pattern, Anteverted nares	ORPHA:1437
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy...	ORPHA:93346
Microtriplication 11Q24.1	Small hand, Limitation of joint mobility, Hearing impairment, Long eyelashes, Genu valgum, Thick ...	ORPHA:289522
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Broad thumb, Plagiocephaly, Prominent fingertip pads, Genu valgum, Low hanging columella, Arachno...	OMIM:619721
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Hearing impairment, G...	OMIM:620099
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Frontotemporal hypertrichosis, Proptosis, Large fleshy ears, Micrognathia, Congenit...	OMIM:263210
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Wide nasal bridge, Finger syndactyly, Hypopigmented skin patches, Abnormality of the wrist, Abnor...	ORPHA:1825
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Hypoplastic fingernail, Cutaneous...	OMIM:113000
Pierpont Syndrome	High anterior hairline, Short toe, Prominent fingertip pads, Short finger, Abnormality of the pla...	ORPHA:487825
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Hearing impairment, Small nail, Micrognathia, Generalized hirsutism, ...	OMIM:617746
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Wide nasal bridge, Horizontal eyebrow, Brachycephaly, Clinodactyly of the 5th finger, Synophrys, ...	ORPHA:352530
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Generalized hyperpigmentation, Hypopigmentation of hair,...	ORPHA:1355
Geleophysic Dysplasia 1	Platyspondyly, Wide nasal bridge, Joint contracture of the hand, Cone-shaped epiphysis, Osteopeni...	OMIM:231050
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra...	OMIM:156550
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus carinatum, Large hands, Hypertelorism, Pectus excavatum, Scoliosis, Kyphosis, Tapered finger	ORPHA:276630
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Elbow dislocat...	OMIM:108721
Pseudohypoparathyroidism Type 1A	Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica...	ORPHA:79443
Cerebrooculofacioskeletal Syndrome 4	Low-set ears, Arthrogryposis multiplex congenita, Slender long bone, Flared metaphysis, Camptodac...	OMIM:610758
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Micrognathia, Glue ear, Bilateral ...	ORPHA:3310
Ollier Disease	Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato...	ORPHA:296
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Hearing impairment, Hypopigment...	ORPHA:84
Sheldon-Hall Syndrome	Wide nasal bridge, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone...	ORPHA:1147
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Brachydactyly, Clinodactyly of the 5th finger	OMIM:604381
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Slender long bone, Limitation of ...	ORPHA:1486
Hypochondroplasia	Flared metaphysis, Lumbar hyperlordosis, Limited elbow extension, Trident hand, Aplasia/hypoplasi...	OMIM:146000
Peters-Plus Syndrome	Low-set ears, Facial hypertrichosis, Square pelvis bone, Hearing impairment, Micrognathia, Broad ...	OMIM:261540
Pseudodiastrophic Dysplasia	Rhizomelia, Hypoplasia of the odontoid process, Anteverted nares, Micrognathia, Talipes equinovar...	OMIM:264180
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Broad long bones, Abnormal metatarsal morphology, Low posterior hairl...	ORPHA:163654
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti...	ORPHA:83468
Even-Plus Syndrome	Epiphyseal dysplasia, Highly arched eyebrow, Depressed nasal ridge, Bifid nasal tip, Dysplasia of...	OMIM:616854
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Equinovarus defor...	ORPHA:1143
Chromosome 8Q21.11 Deletion Syndrome	Low-set ears, Wide nasal bridge, Pigmentary retinopathy, Micrognathia, Sensorineural hearing impa...	OMIM:614230
Trisomy 5P	Protruding ear, Abnormal metacarpal morphology, Scoliosis, Hypertelorism	ORPHA:1742
8Q12 Microduplication Syndrome	Wide nasal bridge, Highly arched eyebrow, Brachycephaly, Short foot	ORPHA:228399
Variegate Porphyria, Childhood-Onset	Short metacarpal, Short finger	OMIM:620483
Osteogenesis Imperfecta, Type Iii	Thin ribs, Wide anterior fontanel, Slender long bone, Hearing impairment, Micrognathia, Recurrent...	OMIM:259420
Acrocraniofacial Dysostosis	Broad thumb, Genu valgum, Micrognathia, Sensorineural hearing impairment, Abnormal toenail morpho...	ORPHA:949
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal, Short digit	ORPHA:228190
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of the ankle, Conductive hearing...	ORPHA:1307
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Low-set ears, Clinodactyly, Small nail, Micrognathia, Sparse eyelashes, Absent eyelash...	OMIM:264090
Peroxisomal Acyl-Coa Oxidase Deficiency	Wide nasal bridge, Depressed nasal bridge, Pigmentary retinopathy, Brachycephaly, Frontal bossing	OMIM:264470
Chromosome 16Q22 Deletion Syndrome	Low-set ears, Wide nasal bridge, Narrow chest, Highly arched eyebrow, Broad hallux, Micrognathia,...	OMIM:614541
Orofaciodigital Syndrome Vi	Low-set ears, Toe syndactyly, Conductive hearing impairment, Clinodactyly, Radial deviation of fi...	OMIM:277170
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Seckel Syndrome 1	Ivory epiphyses, Low-set ears, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contractu...	OMIM:210600
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Stillbirth, Micrognat...	OMIM:215045
Leri Pleonosteosis	Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Abnormal form of ...	ORPHA:2900
Hyperparathyroidism, Transient Neonatal	Thin ribs, Low-set ears, Fractured rib, Narrow chest, Wide nasal bridge, Metaphyseal spurs, Osteo...	OMIM:618188
Trisomy 8P	Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Low posterior ha...	ORPHA:264450
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Recurrent otitis media, Broad foot, Broad phalanx, Metaphyseal dysplasia, ...	ORPHA:2502
Microcephaly-Micromelia Syndrome	Low-set ears, Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Hu...	OMIM:251230
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal clavicle morphology, Malar prominence, Abnormal hip bone morphology, Micro...	ORPHA:2522
Pierpont Syndrome	High anterior hairline, Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Brach...	OMIM:602342
Synostoses, Tarsal, Carpal, And Digital	Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy...	OMIM:186400
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Proptosis, Abnormal diaphysis morphology, Overtubulated long bone...	ORPHA:85184
Nabais Sa-De Vries Syndrome, Type 1	Highly arched eyebrow, Depressed nasal bridge, Bulbous nose, Long eyelashes, Prominent nasal brid...	OMIM:618828
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atlantoaxial dislocation, Dysplasia of the femoral head, Micrognathia, Arachnodacty...	ORPHA:536467
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Micromelia, Metaphyseal spurs, Posterior rib cupping, Irregular epiphyses, Thoraci...	OMIM:608728
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Hypoplastic ilia, Narrow chest, Proptosis, Micromelia, Thoracic hypoplasia, Lateral...	OMIM:617895
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Polydactyly, Bone spicule p...	OMIM:615994
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Finger swelling, Premature graying of hair, Recurrent otitis media, Flexion...	OMIM:256040
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Hip subluxation	OMIM:620200
Hurler Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Short neck, Diaph...	OMIM:607014
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s...	ORPHA:93317
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Talipes equino...	OMIM:114300
Craniometaphyseal Dysplasia, Autosomal Recessive	Wide nasal bridge, Depressed nasal ridge, Flared metaphysis, Nasal congestion, Facial hyperostosi...	OMIM:218400
Phosphoribosylaminoimidazole Carboxylase Deficiency	Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de...	OMIM:619859
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Melanocytic nevus, Brachycephaly, Craniosynostosis	OMIM:612247
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Sprengel anomaly, Hypertelorism, Plantar pits, Ve...	OMIM:109400
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Pectus carinatum, Plagiocephaly, Arachnodactyly, Brachycephaly, Clinodactyly of...	OMIM:619910
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Hearing impairment, Preaxial hand pol...	ORPHA:2307
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy	Wide nasal bridge, Synophrys, Low anterior hairline	OMIM:619844
Dysostosis Multiplex, Ain-Naz Type	Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa hypoplasia, Hemiverte...	OMIM:619345
Gand Syndrome	Wide nasal bridge, Broad nasal tip, Long toe, Long fingers, Sparse hair	OMIM:615074
Marshall Syndrome	Low-set ears, Radial bowing, Recurrent otitis media, Micrognathia, Sensorineural hearing impairme...	OMIM:154780
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Low-set ears, Alopecia, Small nail, Micrognathia, Absent eyelashes, Metaphyseal chondrodysplasia,...	ORPHA:166035
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clinodactyly, Micrognathia, Short neck, Abnormal metacarpal morphology, Absent radi...	OMIM:268300
49,Xyyyy Syndrome	Short 5th finger, Male hypogonadism, Lower limb asymmetry, Finger clinodactyly, Bridged palmar cr...	ORPHA:99330
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Proptosis, Hearing impairment, Myelomeningocele, Punctate vertebr...	ORPHA:1914
Non-Syndromic Metopic Craniosynostosis	Wide nasal bridge, Trigonocephaly, Synophrys	ORPHA:3366
Frank-Ter Haar Syndrome	Genu recurvatum, Wide nasal bridge, Camptodactyly of finger, Umbilical hernia, Osteolysis, Joint ...	ORPHA:137834
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyse...	OMIM:250420
Filippi Syndrome	Wide nasal bridge, 2-4 toe syndactyly, Finger clinodactyly, Hypertrichosis, Underdeveloped nasal ...	OMIM:272440
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Wide nasal bridge, Microretrognathia, Joint hypermobility, Short clavicles, Short 4th metacarpal	OMIM:606220
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Hypopigmented skin pa...	ORPHA:1784
Waardenburg-Shah Syndrome	Wide nasal bridge, Abnormality of the nose, Underdeveloped nasal alae, Premature graying of hair,...	ORPHA:897
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, ...	ORPHA:1387
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Wide nasal bridge, Conductive hearing impairment, Micrognathia, Joint contracture of the 5th fing...	OMIM:248910
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, Poliosis, Hypertelorism	OMIM:277740
Intellectual Developmental Disorder, X-Linked 104	Wide nasal bridge, Bifid nasal tip, Trigonocephaly, Frontal upsweep of hair	OMIM:300983
Anauxetic Dysplasia 1	Atlantoaxial dislocation, Hip contracture, Barrel-shaped chest, Short neck, Hypertelorism, Short ...	OMIM:607095
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Skeletal muscle atrophy, Finger syndactyly, Hearing impairment,...	ORPHA:570
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os...	ORPHA:93356
Acrofrontofacionasal Dysostosis 2	Low-set ears, Broad thumb, Proptosis, Broad hallux, Widow's peak, Hand polydactyly, Hypertelorism...	OMIM:239710
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Abnormal ...	ORPHA:1426
Wiedemann-Steiner Syndrome	Low-set ears, Small hand, Recurrent otitis media, Long hallux, Contracture of the distal interpha...	OMIM:605130
Pseudoaminopterin Syndrome	Hypoplasia of the antihelix, Synostosis of carpal bones, Overlapping toe, Micrognathia, Frontal u...	ORPHA:221120
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Low-set ears, Short distal phalanx of finger, Sparse eyebrow, High anterior hairline, Small nail,...	OMIM:250410
Mosaic Trisomy 14	Wide nasal bridge, Narrow chest, Camptodactyly of finger, Anteverted nares, Prominent nasal bridg...	ORPHA:1703
Thalidomide Embryopathy	Hearing impairment, Preaxial hand polydactyly, Radial club hand, Anotia, Aplasia/hypoplasia of th...	ORPHA:3312
Roifman Syndrome	Epiphyseal dysplasia, Biconvex vertebral bodies, Short toe, Prominent eyelashes, Recurrent otitis...	ORPHA:353298
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Sensorineural hearing impairment, Sh...	ORPHA:818
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Wide nasal bridge, Depressed nasal bridge, Pectus carinatum, Clinodactyly, ...	OMIM:607131
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Brachycephaly, Low insertion of colum...	OMIM:619995
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Micrognathia, Broad foot, Sensorineural hearing impairment,...	OMIM:619841
Hall-Riggs Syndrome	Platyspondyly, Brachydactyly, Metaphyseal dysplasia, Hypertelorism, Osteoporosis, Scoliosis, Kyph...	OMIM:234250
Intellectual Developmental Disorder, Autosomal Recessive 61	Low-set ears, Highly arched eyebrow, Prominent fingertip pads, Decreased muscle mass, Long eyelas...	OMIM:617773
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing...	ORPHA:485
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Choanal atresia, Depressed nasal bridge, Narrow chest, Narrow pelvis...	OMIM:207410
Xylt1-Cdg	Broad thumb, Proptosis, Clinodactyly, Flared metaphysis, Broad ribs, Hirsutism, Short clavicles, ...	ORPHA:370930
Osteogenesis Imperfecta, Type Xiii	Hearing impairment, Arachnodactyly, Generalized hirsutism, Dislocated radial head, Pectus carinat...	OMIM:614856
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal vertebral morphology, Low-set ears, Alopecia, Toe syndactyly, Finger syndactyly, Supernu...	ORPHA:3224
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Broad foot, Talipes, Short neck, Pes planus, Hypertelorism, Short ...	ORPHA:915
Urban-Rogers-Meyer Syndrome	Aplasia/Hypoplasia of the earlobes, Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaph...	ORPHA:3409
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Pectus carinatum, Abnormal clavicle morphology, Camptodactyly of ...	ORPHA:3138
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Clinodactyly of the 2nd finger, Micrognathia, Absent toenail, Pes planus, Diaphysea...	OMIM:620663
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Slender long bone, Hearing impairment, Bowing of the long bon...	OMIM:619795
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Abnorma...	ORPHA:392
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Brachycephaly	OMIM:309545
Refsum Disease	Abnormal epiphysis morphology, Skeletal muscle atrophy, Abnormal foot morphology, Pes cavus, Abno...	ORPHA:773
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Wide nasal bridge, Multiple suture craniosynostosis, Po...	ORPHA:3369
Joubert Syndrome With Hepatic Defect	Low-set ears, Biparietal narrowing, Macrocephaly, Postaxial hand polydactyly, Scoliosis	ORPHA:1454
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short distal phalanx of finger, Short toe, Camptodactyly of finger, Low anterior hairline, Short ...	ORPHA:3201
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph...	ORPHA:198
Frank-Ter Haar Syndrome	Low-set ears, Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of the long bones, T...	OMIM:249420
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Abnormal helix morphology, Hearing impairment, B...	ORPHA:61
Tarp Syndrome	Low-set ears, Wide nasal bridge, Prominent antihelix, Clinodactyly, Micrognathia, Single transver...	OMIM:311900
9Q31.1Q31.3 Microdeletion Syndrome	Highly arched eyebrow, Small hand, Cervical kyphosis, Short clavicles, Short neck, Thick hair, Ta...	ORPHA:401923
Coffin-Lowry Syndrome	Hearing impairment, Sensorineural hearing impairment, Pes planus, Hypertelorism, Short metacarpal...	OMIM:303600
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Camptodactyly of finger, Abnormal eyebrow morphology, ...	ORPHA:2077
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ...	OMIM:123000
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus, Limb muscle weakness, Sensorineural hearing impairment	OMIM:266500
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Vulto-Van Silfhout-De Vries Syndrome	2-3 toe cutaneous syndactyly, Horizontal eyebrow, Prominent fingertip pads, Fine hair, Brachyceph...	OMIM:615828
Orofaciodigital Syndrome Type 10	Aplasia/Hypoplasia of the nails, Polysyndactyly of hallux, Radial deviation of the hand, Short ti...	ORPHA:2756
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Frontal bossing, Prominent occiput, Vertebral segmentation defect, Biparietal narr...	ORPHA:2612
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Clinodactyly, Hypertelorism, Brachydactyly, Osteolysis involving bones of the upper lim...	ORPHA:88630
Rhizomelic Limb Shortening With Dysmorphic Features	Short 5th finger, Wide nasal bridge, Rhizomelia, Plagiocephaly, Short thumb, Prominent fingertip ...	OMIM:618821
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Antley-Bixler Syndrome	Choanal atresia, Narrow chest, Camptodactyly of finger, Anteverted nares, Femoral bowing, Turrice...	ORPHA:83
Rafiq Syndrome	Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Flat occiput, Sparse lateral eyebrow, B...	OMIM:614202
Boomerang Dysplasia	Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae, Fibular aplasia, Neonatal...	OMIM:112310
Frontonasal Dysplasia 2	Wide nasal bridge, Depressed nasal ridge, Sparse eyebrow, Bifid nasal tip, Depressed nasal bridge...	OMIM:613451
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Hearing impairment, Partial fusion of...	OMIM:305620
Craniofrontonasal Syndrome	Toe syndactyly, Low posterior hairline, Sprengel anomaly, Curly hair, Split nail, Hemihypotrophy ...	OMIM:304110
Phaver Syndrome	Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct...	ORPHA:2876
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of retinal pigmentation, Abnormality of the hand, Brachydactyly...	ORPHA:1264
White Forelock With Malformations	Finger syndactyly, Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, White forel...	ORPHA:2475
Intellectual Developmental Disorder, Autosomal Dominant 59	Low-set ears, Highly arched eyebrow, Protruding ear, Brachydactyly, Short palm, Facial hypotonia,...	OMIM:618522
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Cupped ear, Hearing impairment, Short clavicles, Hypogonadotropic hypogonadism, Tap...	OMIM:617159
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Postnatal growth retardation, Anteverted nares, Micrognathia, Low posteri...	OMIM:179613
Mycetoma	Abnormal form of the vertebral bodies, Abnormal forearm bone morphology, Structural foot deformit...	ORPHA:2583
Bent Bone Dysplasia Syndrome 1	Low-set ears, Coronal craniosynostosis, Micrognathia, Bell-shaped thorax, Hirsutism, Short clavic...	OMIM:614592
Anonychia-Ectrodactyly	Aplasia of metacarpal bones, Anonychia, Split hand	OMIM:106900
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Pectus carinatum, Postnatal growth retardation, Micrognathia, Brachycephaly, Slender nose, Short ...	OMIM:615419
ERI1-related disease	Micrognathia, Finger joint hypermobility, Dislocated radial head, Sparse hair, Hip dislocation, S...	OMIM:608739
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Wide nasal bridge, Underdeveloped nasal alae, Frontal bossing, Micrognathia, Dolichocephaly, Clin...	ORPHA:1516
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor...	ORPHA:239
Achondrogenesis, Type Ii	Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Hor...	OMIM:200610
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Hypomelanosis Of Ito	Alopecia, Radial deviation of finger, Clinodactyly, Macular hypopigmented whorls, streaks, and pa...	OMIM:300337
Fg Syndrome 4	Wide nasal bridge	OMIM:300422
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared...	ORPHA:93352
45,X/46,Xy Mixed Gonadal Dysgenesis	Hearing impairment, Recurrent otitis media, Low-set, posteriorly rotated ears, Azoospermia, Micro...	ORPHA:1772
Intellectual Developmental Disorder, Autosomal Recessive 79	Wide nasal bridge, Slender finger, Broad nasal tip, Short hallux, Long fingers, Clinodactyly of t...	OMIM:620393
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Turricephaly, Brachycephaly, Abnormal metacarpal morphology, Brachydactyly, Conv...	ORPHA:93262
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Keipert Syndrome	Low-set ears, Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Absent toe...	OMIM:301026
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Craniosynostosis, Brachycephaly	ORPHA:178377
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Highly arched eyebrow, Depressed nasal bridge, Preaxial polydactyly, Overlapping toe, Overlapping...	OMIM:618142
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Broad clavicles, Hearing impairment, Rhizomelic arm shortening, Abnormal thorax morphology, Short...	ORPHA:508542
C Syndrome	Hypoplasia of the ear cartilage, Toe syndactyly, Micromelia, Low-set, posteriorly rotated ears, T...	ORPHA:1308
Kury-Isidor Syndrome	Alopecia, Finger syndactyly, Hypertrichosis, Frontal bossing, Anteverted nares, Talipes equinovar...	OMIM:619762
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Death in infancy, Neonatal death, Hypoplasia of the radius, Small then...	OMIM:613390
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Low-set ears, Osteopenia, Coronal craniosynostosis, Abnormal pe...	ORPHA:313855
Megalencephaly	Wide nasal bridge, Genu valgum, Prominent occiput, Dolichocephaly, Frontal bossing	ORPHA:2477
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Wide nasal bridge, Dry hair, Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous ...	OMIM:618569
Woods Syndrome	Hypoplastic fifth toenail, Wide nasal bridge, Supernumerary nipple, Broad nail, Frontal hirsutism...	OMIM:615236
Trigonocephaly With Short Stature And Developmental Delay	Wide nasal bridge, Lambdoidal craniosynostosis, Trigonocephaly, Sagittal craniosynostosis, Convex...	OMIM:314320
Hall-Riggs Syndrome	Platyspondyly, Wide nasal bridge, Coarse hair, Abnormal epiphysis morphology, Joint stiffness, Li...	ORPHA:2107
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, High anterior hairline, Anteverted nares	OMIM:618859
Achard Syndrome	Arachnodactyly, Brachycephaly, Micrognathia, Broad skull	OMIM:100700
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Depressed nasal bridge, Frontal bossing, Brachycephaly, Pectus excavatum, Craniosynostosis	ORPHA:314575
Macrocephaly/Autism Syndrome	Postnatal macrocephaly, Recurrent otitis media, Biparietal narrowing, Frontal bossing	OMIM:605309
Chromosome 5P13 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Low hanging columella, Turricephaly, Low posterior hairline, Bra...	OMIM:613174
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Low-set ears, Abnormali...	ORPHA:163966
Arthrochalasia Ehlers-Danlos Syndrome	Avascular necrosis of the capital femoral epiphysis, Micrognathia, Joint stiffness, Joint hypermo...	ORPHA:1899
Duane Retraction Syndrome	Hearing impairment, Hypopigmented skin patches, Micrognathia, Sensorineural hearing impairment, L...	ORPHA:233
Stuve-Wiedemann Syndrome 1	Thin ribs, Low-set ears, Short tibia, Micrognathia, Metaphyseal rarefaction, Deeply set eye, Bowi...	OMIM:601559
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly	Wide nasal bridge, Sparse eyebrow, Onychogryposis of toenails, 2-3 toe syndactyly, 3-4 finger syn...	OMIM:600906
Craniosynostosis 6	Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Low anterio...	OMIM:616602
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
Larsen-Like Syndrome	Low-set ears, Conductive hearing impairment, Recurrent otitis media, Radial deviation of the 4th ...	OMIM:608545
Symphalangism, Proximal, 1A	Distal symphalangism of hands, Conductive hearing impairment, Stapes ankylosis, Aplasia/Hypoplasi...	OMIM:185800
Terminal Osseous Dysplasia	Toe clinodactyly, Low-set ears, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg s...	OMIM:300244
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Microretrognathia, Limitation of joint mobility, Finger syndactyl...	ORPHA:2994
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Sparse eyebrow, Abnormal pelvic girdle bone morphology, Metaphyseal cupp...	OMIM:250250
Fountain Syndrome	Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Scapuloperoneal Spinal Muscular Atrophy	Peroneal muscle atrophy, Progressive distal muscular atrophy, Small hand, Muscle fiber splitting,...	OMIM:181405
Focal Facial Dermal Dysplasia Type Iii	Wide nasal bridge, Highly arched eyebrow, Depressed nasal ridge, Sparse lateral eyebrow, Hypopigm...	ORPHA:1807
Three M Syndrome 1	Short 5th finger, Slender long bone, Hypoplastic pelvis, Increased vertebral height, Thick eyebro...	OMIM:273750
Waardenburg Syndrome Type 1	Wide nasal bridge, Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal ha...	ORPHA:894
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Sandal gap, Bulbous nose, Prominent nose, Anteverted n...	ORPHA:2180
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Genu valgu...	OMIM:226980
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Distal shorte...	OMIM:146510
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Patellar aplasia, Calcinosis, Premature ovarian insufficiency, Sparse hair, Gen...	ORPHA:221008
Richieri Costa-Da Silva Syndrome	Pectus carinatum, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodi...	ORPHA:3101
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Ragged-red muscle fibers...	ORPHA:17
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Abnormal antihelix morphology,...	ORPHA:2886
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal ...	ORPHA:64754
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Low-set ears, Wide nasal bridge, Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, He...	OMIM:618659
Satoyoshi Syndrome	Alopecia universalis, Abnormal epiphysis morphology, Abnormal hair morphology, Abnormality of the...	ORPHA:3130
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Scoliosis, Short iliac bones, Ab...	ORPHA:93316
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Small hand, Clinodactyly, Recurrent otitis media, Micrognathia, Reduced social reciprocity, Joint...	ORPHA:254531
8Q24.3 Microdeletion Syndrome	Branchial cyst, Deeply set eye, Talipes, Short neck, Short hallux, Pes planus, Short 5th finger, ...	ORPHA:508488
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Recurrent otitis media, Deeply set eye, Synovitis, Hypertelorism, Absent earlobe, S...	ORPHA:3455
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal muscle fiber morph...	ORPHA:3068
Lujan-Fryns Syndrome	Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Arachnodactyly, Brachycephaly, Bra...	ORPHA:776
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Depressed nasal bridge, Alopecia, Coronal craniosynostosis, Underdeveloped nasal alae, Fine hair,...	ORPHA:228390
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Calcin...	ORPHA:221016
4Q21 Microdeletion Syndrome	Low-set ears, Small hand, Toe syndactyly, Micromelia, Hearing impairment, Long eyelashes, General...	ORPHA:238750
Pfeiffer Syndrome	Choanal atresia, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneou...	OMIM:101600
Nager Syndrome	Sparse lower eyelashes, Aplasia/Hypoplasia of the radius, Hearing impairment, Atresia of the exte...	ORPHA:245
Humeroradial Synostosis	Wide nasal bridge, Brachycephaly, Humeroradial synostosis	OMIM:236400
Nance-Horan Syndrome	Protruding ear, Short metacarpal	ORPHA:627
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Low-set ears, Genu valgum, Micrognathia, Congenital diaphragmatic hernia, Lo...	OMIM:245600
Peroxisome Biogenesis Disorder 6A (Zellweger)	Wide nasal bridge, Epiphyseal stippling, Neonatal death	OMIM:614870
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Slender long bone, Sacrococcygeal pilonidal abnormality, Limitation of j...	ORPHA:2840
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Bulbous nose, Prominent nose, Anteverted nares, Prominent nasal bridge, Hip contra...	OMIM:616801
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh...	OMIM:602557
Mucolipidosis Type Iv	Microcephaly, Biparietal narrowing	ORPHA:578
Cooper-Jabs Syndrome	Camptodactyly of finger, Frontal bossing, Abnormal hip bone morphology, Anteverted nares, Missing...	ORPHA:1488
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Triphal...	OMIM:604757
20P13 Microdeletion Syndrome	Low-set ears, Hypoplastic helices, Highly arched eyebrow, Finger syndactyly, Clinodactyly, Small ...	ORPHA:313781
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Underdeveloped nasal alae, Cervical ribs...	ORPHA:77300
Yunis-Varon Syndrome	Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Micrognathia, Spar...	ORPHA:3472
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Pectus carinatum, Dislocation of the femoral head, Frontal upsweep of...	OMIM:619797
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Mottled pigmentation, Proptosis, Micrognathia, Brittle hair, Death in earl...	OMIM:608612
Alagille Syndrome 1	Low-set ears, Short distal phalanx of finger, Pigmentary retinopathy, Deeply set eye, Butterfly v...	OMIM:118450
48,Xyyy Syndrome	Male hypogonadism, Abnormal foot morphology, Azoospermia, Radioulnar synostosis, Short neck, Pes ...	ORPHA:99329
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan...	ORPHA:1436
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Elbow dislocation, Abnormal form of the vertebral bodies, Abnorma...	ORPHA:2769
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Hearing impairment, Low-set, posteriorly rotated ears, Abnormal fingernail mor...	ORPHA:2701
3Q13 Microdeletion Syndrome	Wide nasal bridge, Narrow chest, Anteverted nares	ORPHA:1621
Three M Syndrome 3	Slender long bone, Short thorax, Increased vertebral height, Joint hypermobility, Protruding ear,...	OMIM:614205
Oculomaxillofacial Dysostosis	Wide nasal bridge, Abnormality of the nose, Underdeveloped nasal alae, Camptodactyly of finger, S...	ORPHA:1794
Aspartylglucosaminuria	Abnormal vertebral morphology, Pectus carinatum, Wide nasal bridge, Umbilical hernia, Joint stiff...	ORPHA:93
Marinesco-Sjögren Syndrome	Pectus carinatum, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skel...	ORPHA:559
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Frontal upsweep of hair, Hypotelorism, Joint hypermobility, Short femur, Microtia	OMIM:617798
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short nail, Short thumb, Abnormal metacarpal morphology, Short metacarpal, Duplication of the dis...	ORPHA:973
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Horizontal eyebrow, Clinodactyly, Bulbo...	ORPHA:369891
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Hip osteoarthritis, Osteoarthritis, Flattened metatarsal heads, Flattened metacarp...	OMIM:271600
Frontonasal Dysplasia 1	Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Clinodactyly, Radial deviation of finger, Sh...	OMIM:136760
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Thin ribs, Thin metatarsal cortices, Small hypothenar eminence, Thin metaca...	ORPHA:2463
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Short distal phalanx of finger, Deeply set eye, Cubitus valgus, Short neck, Br...	OMIM:617157
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Man1B1-Cdg	Wide nasal bridge, Pectus carinatum, Sparse eyebrow, Flat occiput, Abnormal position of hair whor...	ORPHA:397941
Frontonasal Dysplasia 3	Wide nasal bridge, Underdeveloped nasal alae, Sparse eyelashes, Brachycephaly, Absent eyebrow	OMIM:613456
Spastic Paraplegia 20, Autosomal Recessive	Distal amyotrophy, Clinodactyly, Lower limb muscle weakness, Pes cavus, Kyphoscoliosis, Ankle clo...	OMIM:275900
Filippi Syndrome	Wide nasal bridge, Finger syndactyly, Small nail, Supernumerary nipple, Broad columella, Underdev...	ORPHA:3255
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Short middle phalanx of ...	ORPHA:63442
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Plagiocephaly, Syndactyly, Tapered finger	OMIM:618725
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Brachycephaly	OMIM:615985
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Thin metacarpal cortices, Decreased muscle mass, Recurrent fractures, Kyphoscolios...	OMIM:616507
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Low-set ears, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly...	OMIM:182212
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Plagiocephaly, Clinodactyly, Bulbous nose, Talipes equinovarus, Brachycep...	OMIM:616789
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Temple-Baraitser Syndrome	Hypoplastic thumbnail, Short distal phalanx of finger, High anterior hairline, Broad thumb, Wide ...	ORPHA:420561
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Talipes equinovarus, Short nec...	OMIM:611209
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Wide nasal bridge, Highly arched eyebrow, Broad thumb, Flat occiput, Long eyelashes, Overlapping ...	OMIM:617452
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hyp...	OMIM:119100
Multiple Epiphyseal Dysplasia Type 5	Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe...	ORPHA:93311
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Clinodactyly, Large fleshy ears, Pes cavus, Overfolded helix, Arachnodactyly, Synda...	OMIM:619092
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Arachnodactyly, Talipes equinovarus, Brachycephaly, Adducted thumb, Camptodactyly, Bilateral tali...	OMIM:615539
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Hearing impairment, Condu...	OMIM:616229
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Toe syndactyly, Clinodactyly, Atresia of the external auditory canal, Overlapping t...	OMIM:154400
Piebaldism	Wide nasal bridge, Abnormal calvaria morphology, Hypopigmented skin patches, White forelock, Hete...	ORPHA:2884
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Choanal atresia, Depressed nasal ridge, Broad proximal phalanges of the hand, Brachyturricephaly,...	OMIM:607597
Marden-Walker Syndrome	Low-set ears, Joint contracture of the hand, Congenital contracture, Abnormal sternum morphology,...	OMIM:248700
Intellectual Developmental Disorder, Autosomal Recessive 5	Wide nasal bridge, Underdeveloped nasal alae, Postnatal growth retardation, Prominent nose, Thick...	OMIM:611091
Cardiocranial Syndrome, Pfeiffer Type	Wide nasal bridge, Abnormal hair whorl, Slender finger, Cutaneous syndactyly of toes, Contracture...	ORPHA:2872
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Wide nasal bridge, Depressed nasal bridge	OMIM:609528
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Short 1st metacarpal, Conductive hearing impairment, Short neck, Hypop...	OMIM:609053
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
2Q23.1 Microdeletion Syndrome	Highly arched eyebrow, Sandal gap, Generalized hirsutism, Brachycephaly, Hip dysplasia, Clinodact...	ORPHA:228402
Kbg Syndrome	Bilateral conductive hearing impairment, Finger clinodactyly, Cervical ribs, Thick eyebrow, Singl...	ORPHA:2332
Monosomy 18P	Wide nasal bridge, Alopecia, Micrognathia, Low posterior hairline, Brachycephaly, Brachydactyly, ...	ORPHA:1598
Arthrogryposis, Distal, Type 4	Depressed nasal bridge, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular devia...	OMIM:609128
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Highly arched eyebrow, Pectus carinatum, Skull asymmetry, Anteverted nares, Th...	OMIM:614701
Desanto-Shinawi Syndrome	Depressed nasal bridge, Bulbous nose, Thick eyebrow, Hirsutism, Brachycephaly, Synophrys	OMIM:616708
Blepharophimosis-Impaired Intellectual Development Syndrome	Low-set ears, Overfriendliness, Sparse eyelashes, Talipes equinovarus, Pes planus, Hypertelorism,...	OMIM:619293
Garg-Mishra Progeroid Syndrome	Platyspondyly, Thin ribs, Narrow chest, Sparse hair, Slender long bone, Small nail, Slender metac...	OMIM:620601
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Nonopposable triphalangeal thumb, Hypoplasia of the radius	OMIM:179250
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Broad thumb, Broad nasal tip, Clinodactyly, Prominent fingertip pads, Sandal g...	OMIM:618529
Al Kaissi Syndrome	Wide nasal bridge, Depressed nasal bridge, Small hand, Broad nasal tip, Clinodactyly, Postnatal g...	OMIM:617694
Osteoglosphonic Dysplasia	Rhizomelia, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Micrognathia, Pr...	ORPHA:2645
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Low-set ears, Hand clenching, Clubbing of toes, Pectus carinatum, Small earlobe, Elbow dislocatio...	OMIM:620083
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the capital femoral ep...	OMIM:617425
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Biparietal narrowing, Pectus excavatum, Abnormal metaphysis morphology, Long fibula	ORPHA:935
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Finger syndactyly, Anteverted nares, Prominent nasal bridge, Micrognathia,...	ORPHA:1974
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Plagiocephaly, Sandal gap, Bulbous nose, Brachycephaly, Clinodactyly of t...	OMIM:618430
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Short neck,...	ORPHA:2636
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Micrognathia...	OMIM:201000
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Plagiocephaly, Abnormality of retinal pigmentation, Hypoplastic v...	ORPHA:2163
Aarskog-Scott Syndrome	Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Broad foot, Short...	OMIM:305400
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Conductive hearing impairment, Genu valgum, Brachydactyly, Short phalanx of...	OMIM:132450
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Depressed nasal bridge, Sparse eyebrow, Small hand, Trigonocephaly, Scaphocephaly, Micrognathia, ...	ORPHA:459061
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Coarse hair, Proptosis, Slender long bone, Low-set, posteriorly rotated ears, Jo...	ORPHA:1185
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Low anterior hairline, 2-3 toe syndactyly, Brachycephaly, Long fingers, Short ...	OMIM:218000
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Bifid nasal tip, Clinodactyly of the 3rd toe, Underdeveloped ...	ORPHA:521308
Orofaciodigital Syndrome Xv	Wide nasal bridge, Broad hallux, Anteverted nares, Duplication of phalanx of hallux, Postaxial ha...	OMIM:617127
Xp22.13P22.2 Duplication Syndrome	Small hand, High anterior hairline, Hearing impairment, Umbilical hernia, Congenital diaphragmati...	ORPHA:284180
Ectodermal Dysplasia 13, Hair/Tooth Type	Wide nasal bridge, Depressed nasal bridge, Thin eyebrow, Sparse eyelashes, Low anterior hairline,...	OMIM:617392
Restrictive Dermopathy 1	Low-set ears, Increased anterioposterior diameter of thorax, Micrognathia, Sparse eyelashes, Abse...	OMIM:275210
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Small hand, Fine hair, Broad long bones, 2-4 toe cutane...	OMIM:257850
Beemer Lethal Malformation Syndrome	Wide nasal bridge	OMIM:209970
Acrofrontofacionasal Dysostosis 1	Wide nasal bridge, Short distal phalanx of finger, Broad thumb, Small nail, Long eyebrows, Long e...	OMIM:201180
Menkes Disease	Alopecia, Hypopigmentation of the skin, Metaphyseal spurs, Brachycephaly, Metaphyseal widening, B...	OMIM:309400
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Acrocallosal Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Sensorineural hearing impairment, ...	ORPHA:36
Cantu Syndrome	Wide nasal bridge, Depressed nasal bridge, Narrow chest, Erlenmeyer flask deformity of the femurs...	OMIM:239850
Saethre-Chotzen Syndrome	Low-set ears, Broad thumb, Finger syndactyly, Hearing impairment, Prominent crus of helix, Bilate...	ORPHA:794
Floating-Harbor Syndrome	Low-set ears, Broad thumb, Recurrent otitis media, Deeply set eye, Low posterior hairline, Short ...	OMIM:136140
Marshall-Smith Syndrome	Conductive hearing impairment, Slender long bone, Proptosis, Reduced bone mineral density, Increa...	ORPHA:561
Osteopathia Striata-Cranial Sclerosis Syndrome	Wide nasal bridge, Asymmetry of the thorax, High iliac wing, Coarse metaphyseal trabecularization...	ORPHA:2780
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Wide nasal bridge, Thin eyebrow, Bulbous nose, Anteverted nares, Micrognathia, Turri...	OMIM:619320
Metaphyseal Chondrodysplasia, Jansen Type	Choanal atresia, Metaphyseal cupping, Micrognathia, Hip contracture, Short ribs, Bowing of the lo...	OMIM:156400
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec...	OMIM:184095
Ritscher-Schinzel Syndrome 1	Depressed nasal bridge, Micrognathia, Prominent occiput, Low posterior hairline, Missing ribs, Br...	OMIM:220210
Autosomal Dominant Spondylocostal Dysostosis	Wide nasal bridge, Abnormal rib morphology, Anteverted nares, Prominent occiput, Missing ribs, Sh...	ORPHA:1797
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Hearing impairment, Radial club hand, Cutaneous finge...	ORPHA:93322
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Highly arched eyebrow, Broad thumb, Toe syndactyly, Flat occiput, Long eyelashes, Overlapping toe...	ORPHA:505237
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Hypoplastic cervical vertebrae, Sensorineural hearing impairment, Sparse eyelashes,...	ORPHA:35173
Burn-Mckeown Syndrome	Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose	ORPHA:1200
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Anisospondyly, Occipital encephalocele, Micromelia, Thoracic hypoplasia, Micro...	OMIM:224410
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Highly arched eyebrow, Broad distal phalanx of finger, Postaxial foot polydact...	ORPHA:404440
Trichorhinophalangeal Syndrome, Type Ii	Low-set ears, Rib exostoses, Sparse scalp hair, Hearing impairment, Recurrent otitis media, Micro...	OMIM:150230
Tetrasomy 5P	Low-set ears, Wide nasal bridge, Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, ...	ORPHA:3309
Lissencephaly Syndrome, Norman-Roberts Type	Wide nasal bridge, Abnormal calvaria morphology, Microretrognathia, Prominent occiput, Adducted t...	ORPHA:89844
Hypertelorism, Microtia, Facial Clefting Syndrome	Short 5th finger, Abnormal vertebral morphology, Conductive hearing impairment, Abnormality of th...	OMIM:239800
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Toe syndactyly, Micrognathia, Short foot, Short 5th finger, Plagiocephaly, Bulbous no...	OMIM:610759
Osteogenesis Imperfecta, Type Xii	Depressed nasal bridge, Pectus carinatum, Brachyturricephaly, Hyperextensibility of the finger jo...	OMIM:613849
Pycnodysostosis	Aplastic clavicle, Spondylolysis, Carious teeth, Delayed eruption of permanent teeth, Prominent o...	OMIM:265800
Christian Syndrome	Wide nasal bridge, Thoracic hemivertebrae, Scoliosis, Short middle phalanx of finger, Fused cervi...	OMIM:309620
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Conductive hearing impairment, Micrognathia, Overfolded helix, Se...	OMIM:300990
48,Xxyy Syndrome	Elbow dislocation, Abnormal shoulder morphology, Infertility, Azoospermia, Joint hypermobility, T...	ORPHA:10
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Parietal foramina, Short r...	OMIM:603116
Craniometaphyseal Dysplasia	Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Abnormal metaphysis morphology	ORPHA:1522
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Micrognathia, Neonatal death, Low posterior hairline, Horizontal ribs, Long thorax, ...	OMIM:617925
3P25.3 Microdeletion Syndrome	Depressed nasal bridge, Broad thumb, Broad hallux, Overlapping toe, Prominent nose, Anteverted na...	ORPHA:435638
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Abnormality of the hairline, Congenital diaphragmatic hernia, Sparse eyelashes, A...	ORPHA:370079
Noonan Syndrome 13	Low-set ears, Clinodactyly, Recurrent otitis media, Overlapping toe, Micrognathia, Low posterior ...	OMIM:619087
Chromosome 15Q26-Qter Deletion Syndrome	Wide nasal bridge, Micrognathia, Talipes equinovarus, Brachydactyly, Short middle phalanx of finger	OMIM:612626
17Q23.1Q23.2 Microdeletion Syndrome	Highly arched eyebrow, Shallow acetabular fossae, Abnormal epiphysis morphology, Sandal gap, Pate...	ORPHA:261279
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Camptodactyly of finger, Dolichocephaly, Brachycephaly, Pectus excavatum	ORPHA:272
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Sparse h...	ORPHA:175
Laurence-Moon Syndrome	Brachycephaly, Hand polydactyly, Brachydactyly, Finger syndactyly	ORPHA:2377
Dysosteosclerosis	Absent paranasal sinuses, Hearing impairment, Sclerosis of hand bone, Micrognathia, Increased int...	OMIM:224300
Distal Deletion 10P	Wide nasal bridge, Hearing impairment, Low-set, posteriorly rotated ears, Abnormal fingernail mor...	ORPHA:1580
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn...	ORPHA:3035
Teebi Hypertelorism Syndrome 2	Proptosis, Hearing impairment, Thick eyebrow, Hypertelorism, Clinodactyly of the 5th finger, Wide...	OMIM:619736
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Clinodactyly, Bulbous nose, Anteverted nares, Micrognathia, Brachydactyly, Cam...	OMIM:613604
Intellectual Developmental Disorder, Autosomal Dominant 1	Postnatal growth retardation, Micrognathia, Low posterior hairline, Short foot, Short nose, Depre...	OMIM:156200
Hamamy Syndrome	Wide nasal bridge, Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Anteve...	OMIM:611174
Metachondromatosis	Bowing of the long bones, Multiple enchondromatosis, Posteriorly rotated ears, Hypertelorism	OMIM:156250
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Thick eyebrow, Short umbilical cord, Short humerus, Short femur, Tapered finger	OMIM:618367
Cornelia De Lange Syndrome 1	Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Lo...	OMIM:122470
Mosaic Trisomy 8	Limitation of joint mobility, Hearing impairment, Hypopigmented skin patches, Micrognathia, Patel...	ORPHA:96061
Fetal Trimethadione Syndrome	Depressed nasal bridge, Micrognathia, Brachycephaly, Short nose, Synophrys	ORPHA:1913
Dysosteosclerosis	Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hearing impairmen...	ORPHA:1782
Acrogeria	Small hand, Irregular hyperpigmentation, Fine hair, Micrognathia, Joint hypermobility, Short foot...	ORPHA:2500
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Brachydactyly, Hypertelorism, Clinodactyly of...	OMIM:244600
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Deep plantar creases, Thoracic hypoplasia, Umbilical ...	OMIM:616638
Crouzon Syndrome	Choanal atresia, Hypopigmented skin patches, Multiple suture craniosynostosis, Melanocytic nevus,...	ORPHA:207
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Abnormal tibia morphology, ...	ORPHA:2496
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Low-set ears, Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip c...	OMIM:620369
Inverted Duplicated Chromosome 15 Syndrome	Broad nasal tip, 2-3 toe syndactyly, Talipes equinovarus, Brachycephaly, Brachydactyly, Clinodact...	ORPHA:3306
Cofs Syndrome	Wide nasal bridge, Camptodactyly of finger, Micrognathia, Abnormality of retinal pigmentation, Ab...	ORPHA:1466
Congenital Myopathy 22A, Classic	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Microgna...	OMIM:620351
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Atresia of the external auditory canal, Micrognath...	ORPHA:199
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Hypertelo...	OMIM:271510
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the ver...	ORPHA:3429
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Finger syndactyly, Hearing impairment, Congenital diaphragmatic her...	ORPHA:2092
Adult Syndrome	Wide nasal bridge, Alopecia, Toenail dysplasia, Absent nipple, Toe syndactyly, Fine hair, Finger ...	ORPHA:978
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Conductive hearing imp...	OMIM:184460
6Q25 Microdeletion Syndrome	Wide nasal bridge, Plagiocephaly, Camptodactyly of finger, Micrognathia, Clinodactyly of the 5th ...	ORPHA:251056
Robinow-Sorauf Syndrome	Broad thumb, Plagiocephaly, Broad hallux, Narrow nose, Duplication of the distal phalanx of the h...	OMIM:180750
Chromosome 17P13.1 Deletion Syndrome	Highly arched eyebrow, Depressed nasal bridge, Plagiocephaly, Broad hallux, Long hallux, Bulbous ...	OMIM:613776
Gapo Syndrome	Low-set ears, Hearing impairment, Hypopigmented skin patches, Micrognathia, Dysmenorrhea, Sparse ...	ORPHA:2067
Abruzzo-Erickson Syndrome	Protruding ear, Radioulnar synostosis, Hearing impairment, Macrotia	OMIM:302905
Diaphanospondylodysostosis	Low-set ears, Unossified sacrum, Thoracic hypoplasia, Delayed vertebral ossification, Hypoplastic...	OMIM:608022
Radio-Renal Syndrome	Micromelia, Abnormal form of the vertebral bodies, Micrognathia, Short neck, Hypoplasia of the ra...	ORPHA:3015
Dandy-Walker Malformation With Postaxial Polydactyly	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Postaxial hand polydactyly, Dolicho...	OMIM:220220
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Micrognathia, Low posterio...	ORPHA:99413
Mosaic Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Micrognathia, Low posterio...	ORPHA:99228
Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Micrognathia, Low posterio...	ORPHA:99226
Turner Syndrome	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Micrognathia, Low posterio...	ORPHA:881
Sclerosteosis 1	Wide nasal bridge, Broad clavicles, Abnormal pelvic girdle bone morphology, Irregular menstruatio...	OMIM:269500
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Wide nasal bridge, Enlarged naris, Ulnar deviation of the hand or of fingers of the hand, Short c...	ORPHA:562528
Chromosome 3Q13.31 Deletion Syndrome	Dolichocephaly, Brachycephaly, Plagiocephaly, Proximal placement of thumb	OMIM:615433
3Mc Syndrome 1	Short 5th finger, Highly arched eyebrow, Lambdoidal craniosynostosis, Coronal craniosynostosis, C...	OMIM:257920
Cerebrofaciothoracic Dysplasia	Narrow chest, Coarse hair, Thick eyebrow, Wide nose, Low posterior hairline, Rib fusion, Abnormal...	ORPHA:1394
Arthrogryposis, Distal, Type 2B1	Wide nasal bridge, Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of the hand or of...	OMIM:601680
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Wide nasal bridge, Alopecia, Anteverted nares, Hyperpigmentation of the skin, Brittle hair, Front...	ORPHA:50812
3Mc Syndrome	Low-set ears, Highly arched eyebrow, Caudal appendage, Hearing impairment, Umbilical hernia, Larg...	ORPHA:293843
Chopra-Amiel-Gordon Syndrome	Flared nostrils, High anterior hairline, Thick nasal alae, Postnatal growth retardation, Brachyce...	OMIM:619504
Trisomy 9P	Macrotia, Hypoplastic fingernail, Fingernail dysplasia, Bilateral single transverse palmar crease...	ORPHA:236
Contractural Arachnodactyly, Congenital	Crumpled ear, Micrognathia, Hip contracture, Arachnodactyly, Talipes equinovarus, Bowing of the l...	OMIM:121050
Pontocerebellar Hypoplasia Type 10	Wide nasal bridge, Highly arched eyebrow, Long eyelashes, Underdeveloped nasal alae	ORPHA:411493
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Supernumerary nipple, Postnatal growth retardation, Overlapping toe, Micrognathia, Low posterior ...	OMIM:213980
Trisomy 20P	Finger syndactyly, Micrognathia, Abnormal antihelix morphology, Talipes, Low posterior hairline, ...	ORPHA:261318
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Anteverted nares, Genu valgum, Microgn...	ORPHA:560
Gorlin-Chaudhry-Moss Syndrome	Short distal phalanx of finger, Coronal craniosynostosis, Coarse hair, Aplasia/Hypoplasia of the ...	ORPHA:2095
Three M Syndrome 2	Short 5th finger, Thin ribs, Pectus carinatum, Slender long bone, Clinodactyly, Lumbar hyperlordo...	OMIM:612921
Gomez-Lopez-Hernandez Syndrome	Alopecia, Skull asymmetry, Anteverted nares, Turricephaly, Brachycephaly, Short nose, Craniosynos...	OMIM:601853
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joint...	OMIM:212112
Meier-Gorlin Syndrome 1	Thin ribs, Low-set ears, Joint contracture of the hand, Small hand, Elbow dislocation, Hearing im...	OMIM:224690
Chromosome 10Q26 Deletion Syndrome	2-3 toe cutaneous syndactyly, Congenital hip dislocation, Flared nostrils, Toe syndactyly, Wide n...	OMIM:609625
48,Xxxy Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Hypogonadism, Infertility, Azoospermia, Down-sl...	ORPHA:96263
17Q24.2 Microdeletion Syndrome	Wide nasal bridge, Broad thumb, Abnormality of the ankle, Otosclerosis, Upper limb undergrowth, R...	ORPHA:529962
Dysostosis, Stanescu Type	Macroglossia, Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, ...	ORPHA:1798
Tonne-Kalscheuer Syndrome	Wide nasal bridge, Broad thumb, Small nail, Fine hair, Prominent nose, Prominent nasal bridge, Mi...	OMIM:300978
Frontofacionasal Dysplasia	Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Absent inner eye...	ORPHA:1791
Klippel-Feil Syndrome 1, Autosomal Dominant	Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Cervical C2/...	OMIM:118100
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Bicoronal synostosis, Low anterior hairline, Brachycephaly, Spina bi...	OMIM:618736
Warburg Micro Syndrome 1	Wide nasal bridge, Facial hypertrichosis, Hypertrichosis, Overlapping toe, Anteverted nares, Micr...	OMIM:600118
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Wide anterior fontanel, Rhizomelia, Narrow chest, Irregular menstruation, Hearing ...	OMIM:616482
Zimmermann-Laband Syndrome	Facial hypertrichosis, Large fleshy ears, Micrognathia, Sensorineural hearing impairment, Short n...	ORPHA:3473
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
8Q22.1 Microdeletion Syndrome	Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Depressed nasal ridge, Finger syndactyl...	ORPHA:178303
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Wide nasal bridge, Rhizomelia, Narrow chest, Short iliac bones, Supernumerary nipple, Thoracic dy...	OMIM:614376
49,Xxxxy Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Hypogonadism, Infertility, Azoospermia, Overfri...	ORPHA:96264
Nail-Patella Syndrome	Patellar aplasia, Sensorineural hearing impairment, Talipes equinovarus, Disproportionate promine...	OMIM:161200
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly	ORPHA:2528
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Elbow dislocation, Radial bowing, Lateral humeral condyle aplasia, Decrea...	OMIM:164900
Congenital Disorder Of Glycosylation, Type Iia	Abnormal rib cage morphology, Thoracolumbar kyphoscoliosis, Slender long bone, Postnatal growth r...	OMIM:212066
Intellectual Developmental Disorder, Autosomal Recessive 45	Wide nasal bridge, Highly arched eyebrow, Bulbous nose, Anteverted nares, Thick eyebrow, Synophrys	OMIM:615979
Houge-Janssens Syndrome 2	Abnormal hair whorl, Broad hallux, Deviation of the 5th finger, Joint hypermobility, Postaxial po...	OMIM:616362
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Osteomalac...	ORPHA:93160
Kahrizi Syndrome	Wide nasal bridge, Bulbous nose, Thoracic kyphosis	OMIM:612713
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Wide nasal bridge, Umbilical hernia, Long eyelashes, Femoral bowing, Micrognathia, Bic...	OMIM:617952
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi...	ORPHA:90652
Brittle Cornea Syndrome	Abnormal epiphysis morphology, Conductive hearing impairment, Increased susceptibility to fractur...	ORPHA:90354
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wide nasal bridge, Camptodactyly of finger, Depressed nasal tip, Long eyelashes, Micrognathia, Br...	ORPHA:2863
Charge Syndrome	Low-set ears, Micrognathia, Sensorineural hearing impairment, Absent radius, Bilateral talipes eq...	OMIM:214800
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short 5th finger, Slender finger, Small hand, Low-set ears, Genu valgum, Micrognathia, Thick eyeb...	OMIM:618443
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Pectus carinatum, Plagiocephaly, Broad columella, Facial hirsutism, Overlappin...	OMIM:619383
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Hearing impairment, Pr...	ORPHA:85199
Pfeiffer Syndrome	Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Turricephaly, Brac...	ORPHA:710
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Abnormal hair morphology, Femoral bowing, Increased susceptibility to ...	OMIM:231070
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Brachydactyly, Type B2	Aplasia/Hypoplasia of the nails, Short distal phalanx of finger, Cutaneous syndactyly of toes, Di...	OMIM:611377
Joubert Syndrome 37	Low-set ears, Wide nasal bridge, Lumbar hyperlordosis, Deeply set eye, Postaxial polydactyly, Joi...	OMIM:619185
Squalene Synthase Deficiency	Low-set ears, Slender long bone, Elbow flexion contracture, Micrognathia, Knee flexion contractur...	OMIM:618156
Warburg Micro Syndrome 2	Postnatal growth retardation, Overlapping toe, Prominent nasal bridge, Low anterior hairline, Cli...	OMIM:614225
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Fine hair, Micromelia, Broad hallux, Postnatal growth retardation, Thick eyebrow, Bra...	OMIM:614800
Shprintzen-Goldberg Syndrome	Low-set ears, Elbow dislocation, Genu valgum, Micrognathia, Arachnodactyly, Bowing of the long bo...	ORPHA:2462
Mulibrey Nanism	Wide nasal bridge, Depressed nasal bridge, Pigmentary retinopathy, Absent frontal sinuses, Thicke...	OMIM:253250
Ring Chromosome 10 Syndrome	Low-set ears, Wide nasal bridge, Sandal gap, Large earlobe, Micrognathia, Abnormal antihelix morp...	ORPHA:1438
Oculodentodigital Dysplasia	Toe syndactyly, Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Deeply set eye...	ORPHA:2710
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Brac...	ORPHA:79414
Koolen-De Vries Syndrome	Wide nasal bridge, Kyphosis, Overfolded helix, Overfriendliness, Vertebral segmentation defect, A...	ORPHA:96169
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Hearing impairment, Micrognathia, Sensorineural hearin...	ORPHA:444077
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Short thumb, Prominent nasal bridge, Brachydactyly, Dislocated radial head, Sh...	ORPHA:401935
9P13 Microdeletion Syndrome	Wide nasal bridge, Highly arched eyebrow, Microretrognathia, Anteverted nares, Thick eyebrow, Hyp...	ORPHA:324313
Contractures-Developmental Delay-Pierre Robin Syndrome	Short thumb, Overlapping toe, Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar synos...	ORPHA:436003
Stevenson-Carey Syndrome	Underdeveloped nasal alae, Anteverted nares, Prominent nasal tip, Brachycephaly, Hip dysplasia, C...	OMIM:611961
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit...	OMIM:113500
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Talipes equinovarus, Narrow nasal ridge, Brachycephaly, Adducted thum...	OMIM:219150
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Brachyturricephaly, Prominent nose, Thick eyebrow, Wide nose, Disloca...	OMIM:300280
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Alopecia, Mottled pigmentation, Sparse scalp hair, Proptosis, Ost...	OMIM:248370
Sialuria	Low-set ears, Wide nasal bridge, Thoracic hypoplasia, Long hallux, Hirsutism, 2-3 toe syndactyly,...	OMIM:269921
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Low-set ears, Highly arched eyebrow, Kyphosis, Sandal gap, Hearing impairment, Camptodactyly of f...	OMIM:619951
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Limb hypertonia, Short tibia, Short femur	OMIM:620306
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Hypopigmentation of the skin, Albinism, Osteoporosis, Hypopigmentation of hair, Ky...	ORPHA:2786
Cole-Carpenter Syndrome	Proptosis, Abnormal form of the vertebral bodies, Micrognathia, Recurrent fractures, Joint hyperm...	ORPHA:2050
Floating-Harbor Syndrome	Low-set ears, Conductive hearing impairment, Clinodactyly, Short thumb, Avascular necrosis of the...	ORPHA:2044
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Aplasia/Hypoplasia of the earlobes, Pectus carinatum, Wide nasal bridge, Short toe, Low-set, post...	ORPHA:98791
Chromosome 1P35 Deletion Syndrome	Wide nasal bridge, Micrognathia, Hip dysplasia, Clinodactyly of the 5th finger, Increased femoral...	OMIM:617930
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Wide nasal bridge, Enlarged naris, Anteverted nares, Short columella, Micrognathia, 11 pairs of r...	OMIM:616266
Arthrogryposis, Distal, Type 12	Low-set ears, Ankle flexion contracture, Palmar hyperhidrosis, Thoracic kyphosis, Hand muscle atr...	OMIM:620545
Premature Aging Syndrome, Penttinen Type	Thin ribs, Micrognathia, Sensorineural hearing impairment, Flexion contracture of finger, Hyperte...	OMIM:601812
Trigonocephaly 1	Wide nasal bridge, Trigonocephaly, Craniosynostosis, Short nose, Synophrys	OMIM:190440
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Otosclerosis, Hearing impairment, Recur...	OMIM:166220
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Wide nasal bridge, Bulbous nose, Anteverted nares, Brachycephaly	OMIM:300958
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Brachyturricephaly, Narrow nasal bridge, Promin...	ORPHA:1225
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Highly arched eyebrow, Broad distal phalanx of finger, Enlarged interphalangeal joints, Abnormali...	ORPHA:2988
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Low-set ears, Short finger, Amyoplasia, Micrognathia, Increased susceptibility to frac...	OMIM:312150
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Low-set ears, Conductive hearing impairment, Sandal gap, Finger syndactyly, Dee...	ORPHA:254346
Enlarged Parietal Foramina	Broad thumb, Occipital encephalocele, Myelomeningocele, Short clavicles, Craniosynostosis	ORPHA:60015
Cutis Laxa, Autosomal Recessive, Type Iib	Congenital hip dislocation, Osteopenia, Decreased muscle mass, Hypotelorism, Deeply set eye, Bowi...	OMIM:612940
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Highly arched eyebrow, Plagiocephaly, Hypoplastic toenails, Aplasia/Hypoplasia of the distal phal...	ORPHA:94066
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Alopecia universalis, Subperiosteal bone resorption, Wide nasal ...	OMIM:277440
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete...	ORPHA:363417
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Bulbous nose, Micrognathia, Wide nasal bridge	ORPHA:93946
17Q12 Microduplication Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Deeply set eye, Synophrys	ORPHA:261272
Brunet-Wagner Neurodevelopmental Syndrome	Wide nasal bridge, Thin eyebrow, Low anterior hairline	OMIM:619690
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Sandal gap, Bulbous nose, Thick eyebrow, Frontal upswe...	OMIM:617061
Joubert Syndrome 10	Wide nasal bridge, Postaxial foot polydactyly, Hirsutism, Brachydactyly, Postaxial hand polydacty...	OMIM:300804
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Low-set ears, Proptosis, Clinodactyly, Slender long bone, Lumbar hyperlordosis, Increased vertebr...	OMIM:613385
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly, Low anterior hairline	ORPHA:320385
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Hallermann-Streiff Syndrome	Thin ribs, Micrognathia, Sparse eyelashes, Sparse hair, Abnormal rib cage morphology, Sparse eyeb...	OMIM:234100
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Narrow chest, Clinodactyly, Tracheomalacia, Micrognathia, Short neck, Abnormal pinna morphology, ...	OMIM:217980
Familial Benign Copper Deficiency	Wide nasal bridge, Early balding, Diaphyseal undertubulation	ORPHA:1551
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Dolichocephaly, Clinodactyly of the 5t...	OMIM:167730
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis,...	ORPHA:2658
Blepharonasofacial Malformation Syndrome	Wide nasal bridge, Finger syndactyly, Sparse lateral eyebrow, Underdeveloped nasal alae, Low post...	ORPHA:1252
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Sensorineural hearing im...	OMIM:605432
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Micrognathia, Hip contracture...	ORPHA:800
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Pectus carinatum, Trigonocephaly, Anteverted nares, Ab...	ORPHA:363659
Momo Syndrome	Wide nasal bridge, Short sternum, Brachycephaly, Large hands, Hyperconvex nail, Frontal bossing	OMIM:157980
Oculoskeletodental Syndrome	Short 5th finger, Wide nasal bridge, Depressed nasal bridge, Abnormality of the frontal hairline,...	ORPHA:557003
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Low-set ears, Hydranencephaly, Microretrognathia, Single transverse palmar crease, Neonatal death...	OMIM:236500
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Cupped ear, Finger syndactyly, Hearing impairment, Atresia of the external audito...	ORPHA:264200
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Plagiocephaly, Curly hair, Brachycephaly, Ulnar deviation of the hand, Hip dys...	OMIM:619435
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Microtia	OMIM:168550
Macrocephaly-Developmental Delay Syndrome	Wide nasal bridge, Microretrognathia, Frontal bossing, Scaphocephaly, Clinodactyly of the 5th fin...	ORPHA:397612
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Pectus carinatum, Broad thumb, Broad hallux phalanx	ORPHA:261295
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Wide nasal bridge, Abnormal epiphysis morphology, Slender long bone, Wrist swelling, Camptodactyl...	ORPHA:2774
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Depressed nasal bridge, Brachycephaly, Micrognathia	OMIM:620240
Cerebrooculonasal Syndrome	Sparse eyebrow, Sparse eyelashes, Brachycephaly, Postaxial hand polydactyly, Abnormal nostril mor...	ORPHA:66625
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Broad thumb, Conductive hearing impairment, Clinodactyly, Hearing...	OMIM:616331
Dubowitz Syndrome	Small hand, Broad thumb, Toe syndactyly, Hearing impairment, Micrognathia, Abnormal antihelix mor...	ORPHA:235
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Toe syndactyly, Anteverted nares, Micrognathia, Hand p...	ORPHA:819
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Sandal gap, Clinodactyly, Long eyelashes, Anteverted nares, Dolichocephal...	ORPHA:357001
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Decreased skull ossification, Stenosis of the medullary cavity of the long...	ORPHA:93324
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Wide nasal bridge, Clinodactyly of the 5th finger, Nail dystrophy, Increased femoral anteversion	OMIM:620502
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Bifid nasal tip, Broad nasal tip, Patellar hypoplasia, Thick nas...	ORPHA:1827
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Brachycephaly, Abnormality of retinal pigmentation, Supernumerary...	ORPHA:1173
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly, Low anterior hairline	OMIM:615031
Chromosome 2P16.1-P15 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Recurrent upper respiratory tract infections, Postnata...	OMIM:612513
Ververi-Brady Syndrome	Low-set ears, Metaphyseal irregularity, Cupped ear, Hypertelorism, Clinodactyly of the 5th finger...	OMIM:617982
Townes-Brocks Syndrome 1	Broad thumb, Pseudoepiphyses of second metacarpal, Lop ear, Sensorineural hearing impairment, Tal...	OMIM:107480
Restrictive Dermopathy 2	Short clavicles, Microretrognathia, Proptosis, Overtubulated long bones	OMIM:619793
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Hypertrichosis, Overlapping toe...	OMIM:618316
Spastic Paraplegia 47, Autosomal Recessive	Wide nasal bridge, Talipes equinovarus, Acetabular dysplasia, Bulbous nose	OMIM:614066
Teebi-Shaltout Syndrome	Wide nasal bridge, Highly arched eyebrow, Pectus carinatum, Rocker bottom foot, Caudal appendage,...	OMIM:272950
3Mc Syndrome 2	Abnormal vertebral morphology, Wide nasal bridge, Hypoplasia of the musculature, Highly arched ey...	OMIM:265050
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Depressed nasal bridge, Short femoral neck, Flared metaphysis, Irregular epiphyses, Bulbous nose,...	OMIM:610442
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Overlapping toe, Micrognathia, Deeply set eye, Short neck, Pes planus, ...	ORPHA:177907
Congenital Disorder Of Glycosylation, Type Id	Wide nasal bridge, Depressed nasal bridge, Small nail, Clinodactyly, Bulbous nose, Clinodactyly o...	OMIM:601110
Microphthalmia, Syndromic 12	Wide nasal bridge, Broad nasal tip, Micrognathia, Neonatal death	OMIM:615524
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Highly arched eyebrow, Small hand, Depressed nasal bridge, Coronal craniosynos...	OMIM:145420
Pycnodysostosis	Small hand, Acromelia, Hypoplastic iliac wing, Micrognathia, Mild conductive hearing impairment, ...	ORPHA:763
Nievergelt Syndrome	Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal s...	OMIM:163400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Wide nasal bridge, Choanal atresia, Small hand, Depressed nasal bridge, Hypertrichosis, Bulbous n...	OMIM:300968
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Proptosis, Hearing impairment, Fine hair, Long eyelashes, Micrognathia, Short ...	OMIM:620250
Sandestig-Stefanova Syndrome	Wide nasal bridge, Highly arched eyebrow, Clinodactyly, Sparse medial eyebrow, Trigonocephaly, Co...	OMIM:618804
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Hearing impairment, Femoral bowing, Biconcave flattened vertebrae, Incr...	OMIM:166200
Tarsal-Carpal Coalition Syndrome	Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr...	OMIM:186570
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Finger clinodactyly, Breast hypoplasia, Long eyelashes, Pectus excavatum ...	OMIM:601353
Hyperphosphatasia-Intellectual Disability Syndrome	Wide nasal bridge, Highly arched eyebrow, Plagiocephaly, Small nail, Clinodactyly, Supernumerary ...	ORPHA:247262
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia, Congeni...	OMIM:265000
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Low-set ears, Toe syndactyly, Amelia, Congenital diaphragmatic hernia, Decreased skull ossificati...	OMIM:601163
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Low-set ears, Short finger, Amyoplasia, Micrognathia, Increased susceptibility to frac...	OMIM:253290
Distal Deletion 13Q	Abnormal form of the vertebral bodies, Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormalit...	ORPHA:1590
Kbg Syndrome	Radial deviation of finger, Underdeveloped nasal alae, Cervical ribs, Ulnar deviation of the 2nd ...	OMIM:148050
Cree Impaired Intellectual Development Syndrome	Cutaneous finger syndactyly, Micrognathia, Brachycephaly, Aplasia/Hypoplasia of the ribs, Pectus ...	OMIM:606851
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Flexion contracture, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Tarsal synostosis...	OMIM:618469
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Abnormal epiphysis morphology, Craniofacial osteosclerosis, Osteom...	ORPHA:324964
Progressive Non-Infectious Anterior Vertebral Fusion	Wide nasal bridge, Kyphosis, Abnormality of the vertebral column, Joint stiffness, Micrognathia, ...	ORPHA:2062
Cantú Syndrome	Wide nasal bridge, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Broad ribs, L...	ORPHA:1517
Warburg Micro Syndrome 3	Hypertrichosis, Postnatal growth retardation, Micrognathia, Low anterior hairline, Brachycephaly,...	OMIM:614222
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Orofaciodigital Syndrome Xix	Wide nasal bridge, Bifid nasal tip, Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Und...	OMIM:620107
Wieacker-Wolff Syndrome, Female-Restricted	Narrow chest, Radial deviation of the hand, Microretrognathia, Anteverted nares, Hip contracture,...	OMIM:301041
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol...	ORPHA:1106
Megalocornea-Intellectual Disability Syndrome	Wide nasal bridge, Osteopenia, Micrognathia, Metatarsus valgus, Sensorineural hearing impairment,...	ORPHA:2479
Smith-Magenis Syndrome	Wide nasal bridge, Brachycephaly, Brachydactyly, Short palm, Synophrys	OMIM:182290
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Pigmentary retinopathy, Frontal bossing, Frontal upsweep of hair, Brachyc...	OMIM:612582
Histidinuria Due To A Renal Tubular Defect	Wide nasal bridge, Rounded middle phalanx of finger, Short middle phalanx of finger, Hypoplastic ...	OMIM:235830
Enthesitis-Related Juvenile Idiopathic Arthritis	Sacroiliac arthritis, Abnormal thoracic spine morphology, Abnormal metatarsal morphology, Knee os...	ORPHA:85438
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Narrow chest, Proptosis, Micromelia, Crumpled long bones, Recurrent fract...	OMIM:610682
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Wide nasal bridge, Small hand, Plagiocephaly, Enlarged naris, Frontal bossing, Anteverted nares, ...	ORPHA:371364
Raine Syndrome	Highly arched eyebrow, Choanal atresia, Depressed nasal bridge, Plagiocephaly, Micromelia, Thorac...	OMIM:259775
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology	OMIM:617784
Vacterl With Hydrocephalus	Absence of the sacrum, Microtia, third degree, Abnormal form of the vertebral bodies, Anotia, Mic...	ORPHA:3412
Freeman-Sheldon Syndrome	Wide nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Underdeveloped nasal alae, C...	ORPHA:2053
Radio-Tartaglia Syndrome	Wide nasal bridge, Highly arched eyebrow, High anterior hairline, Depressed nasal bridge, Small n...	OMIM:619312
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Plagiocephaly, Slender long bone, Trigonocephaly, Micrognathia, Decreased calvarial os...	OMIM:618265
Oculofaciocardiodental Syndrome	Highly arched eyebrow, Short thumb, Hearing impairment, Genu valgum, Flexion contracture of the 4...	ORPHA:2712
Brittle Cornea Syndrome 1	Congenital hip dislocation, Hearing impairment, Spondylolisthesis, Joint hypermobility, Palmoplan...	OMIM:229200
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus, Brachycephaly	OMIM:619972
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Synophrys, Plagiocephaly, Frontal bossing, Hirsutism	OMIM:619264
Chromosome 9P Deletion Syndrome	Low-set ears, Wide nasal bridge, Highly arched eyebrow, Prominent antihelix, Sandal gap, Fair hai...	OMIM:158170
Lissencephaly 4	Wide nasal bridge	OMIM:614019
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Wide nasal bridge, Hypopigmentation of the skin, Bulbous nose, Micrognathia, Aplasia/Hypoplasia o...	ORPHA:261304
Orofaciodigital Syndrome Iii	Low-set ears, Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excav...	OMIM:258850
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Wide nasal bridge, Broad thumb, Proptosis, Clinodactyly, Hearing impairment, Sacral...	OMIM:616894
Trisomy 12P	Wide nasal bridge, Supernumerary nipple, Thick eyebrow, Micrognathia, Turricephaly, Large hands, ...	ORPHA:1699
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Low-set ears, Small hand, Premature graying of hair, Abnormal hand morphology, Azoospermia, Deepl...	OMIM:300845
Histidinuria-Renal Tubular Defect Syndrome	Wide nasal bridge, Rounded middle phalanx of finger, Short middle phalanx of finger, Hypoplastic ...	ORPHA:2158
Noonan Syndrome 6	Wide nasal bridge, Depressed nasal bridge, Abnormal sternum morphology, Multiple lentigines, Low ...	OMIM:613224
Pontocerebellar Hypoplasia, Type 3	Depressed nasal bridge, Brachycephaly	OMIM:608027
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Frontal upsweep of hair, ...	OMIM:305450
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Pectus excavatum, Brachycephaly, Plagiocephaly	OMIM:618603
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	2-3 toe cutaneous syndactyly, Depressed nasal bridge, Wide nasal bridge, Anteverted nares, Promin...	OMIM:300260
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Conductive hearing impairment, 2-3 finger syndactyly, Hyperpigmentatio...	OMIM:603467
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormal pelvic girdle bone morphology, Slender long bone, Abn...	ORPHA:1506
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Micromelia, Anteverted nares, Neonatal death, Camptoda...	OMIM:610015
Hallermann-Streiff Syndrome	Choanal atresia, Alopecia, Sparse eyebrow, Small hand, Rib exostoses, Underdeveloped nasal alae, ...	ORPHA:2108
Laurin-Sandrow Syndrome	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi...	ORPHA:2378
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Plagiocephaly, Scaphocephaly, Clinodactyly of the 5th finger, Frontal bossing	OMIM:619149
X Small Rings	Toe syndactyly, Upper limb undergrowth, Reduced bone mineral density, Lower limb undergrowth, Pre...	ORPHA:96201
Alazami Syndrome	Low-set ears, Sparse eyebrow, Slender long bone, Deeply set eye, Scoliosis	ORPHA:319671
Chromosome 13Q33-Q34 Deletion Syndrome	Wide nasal bridge, Choanal atresia, Narrow chest, Short thumb, Trigonocephaly, Overlapping toe, M...	OMIM:619148
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Wide nasal bridge, Aplasia of the phalanges of the 3rd toe	ORPHA:2229
Bresek Syndrome	Low-set ears, Alopecia, Hearing impairment, Neonatal death, Protruding ear, Hemivertebrae, Postax...	ORPHA:85284
20Q13.33 Microdeletion Syndrome	Highly arched eyebrow, Proptosis, Prominent crus of helix, Low-set, posteriorly rotated ears, Tal...	ORPHA:261311
Trichorhinophalangeal Syndrome Type 2	Wide nasal bridge, Thick nasal alae, Bulbous nose, Avascular necrosis of the capital femoral epip...	ORPHA:502
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Decreased muscle mass, Long hallux, Narrow palm, Talipes equinovarus, Short neck, Hypertelorism, ...	OMIM:309583
Congenital Disorder Of Deglycosylation 2	Genu recurvatum, Macroglossia, Highly arched eyebrow, Broad thumb, Sandal gap, Hearing impairment...	OMIM:619775
Hurler Syndrome	Abnormal vertebral morphology, Wide nasal bridge, Abnormal epiphysis morphology, Abnormal clavicl...	ORPHA:93473
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Lambdoidal craniosynostosis, Toe syn...	OMIM:101400
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Slender long bone, Decreased skull ossification, Calvarial osteosclerosis,...	OMIM:244460
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius	OMIM:602200
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Micrognathia, Deeply set eye, Short neck, Small thenar eminence, Hypertelorism, Hip...	OMIM:613458
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Hypopigmented skin patches, Joint stiffness, Genu valgum, Hypogon...	ORPHA:1295
Mend Syndrome	Low-set ears, Wide anterior fontanel, Abnormal auditory evoked potentials, Broad hallux, Overlapp...	ORPHA:401973
Intellectual Developmental Disorder, Autosomal Dominant 74	Brachycephaly, Prominent nose	OMIM:620688
Cerebellofaciodental Syndrome	Low-set ears, Sparse eyebrow, Slender long bone, Proximal femoral epiphysiolysis, Fine hair, Genu...	OMIM:616202
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Hypoplastic ilia, Narrow chest, Micromelia, Broad long bones, Clubbing of fing...	ORPHA:1865
Chromosome 1Q41-Q42 Deletion Syndrome	Low-set ears, Sparse eyebrow, Sandal gap, Small nail, Supernumerary nipple, Congenital diaphragma...	OMIM:612530
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Short ...	OMIM:105650
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, High anterior hairline, Horizontal eyebrow, Anteverted nares, Thick eyebr...	OMIM:618797
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Broad hallux, Hypoplastic fingernail, Anterior...	OMIM:614749
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set ears, Occipital encephalocele, Supernumerary nipple, Twelfth rib hypoplasia, Bell-shaped ...	ORPHA:397715
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, B...	OMIM:227330
Spinocerebellar Ataxia 47	Wide nasal bridge, Small hand, Clinodactyly, Tapered finger	OMIM:617931
Autism Spectrum Disorder Due To Auts2 Deficiency	Wide nasal bridge, Highly arched eyebrow, Anteverted nares, Micrognathia, Joint contracture of th...	ORPHA:352490
Distal Deletion 9P	Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnormal helix morphology, Proptosis, Low-...	ORPHA:1642
Intellectual Developmental Disorder, Autosomal Recessive 13	Wide nasal bridge, Slender finger, Synophrys	OMIM:613192
Osteogenesis Imperfecta, Type Xx	Asymmetry of the thorax, Highly arched eyebrow, Narrow chest, Plagiocephaly, Sparse lateral eyebr...	OMIM:618644
Braddock-Carey Syndrome 1	Wide nasal bridge, Small hand, Clinodactyly, Anteverted nares, Talipes equinovarus, Curly hair, C...	OMIM:619980
Coffin-Siris Syndrome 6	Depressed nasal bridge, Broad nasal tip, Plagiocephaly, Clinodactyly, Micrognathia, Brachydactyly...	OMIM:617808
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, He...	ORPHA:1507
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Wide nasal bridge, Anosmia, Cutaneous finger syndactyly, Thick eyebrow, Synophrys	OMIM:210745
Anophthalmia Plus Syndrome	Aplasia/Hypoplasia of the earlobes, Deviation of finger, Low-set, posteriorly rotated ears, Verte...	ORPHA:1104
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small hand, Hypopigmentation of the skin, Hypogonadism, Hypogonadotropic hypogonadism...	ORPHA:398079
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Low-set ears, Hearing impairment, Recurrent otitis media, Deeply set eye, S...	OMIM:252940
Zaki Syndrome	Wide nasal bridge, Sparse eyebrow, Toe syndactyly, Broad distal phalanx of finger, Sparse lateral...	OMIM:619648
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Peroxisome Biogenesis Disorder 3A (Zellweger)	Wide nasal bridge, Epiphyseal stippling, Wide anterior fontanel	OMIM:614859
Craniolenticulosutural Dysplasia	Wide nasal bridge, Forehead hyperpigmentation, Narrow chest, Posterior wedging of vertebral bodie...	OMIM:607812
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Conductive hearing impairment, Flared metaphysis, Preaxial hand polyd...	OMIM:252100
Lig4 Syndrome	Wide nasal bridge, Prominent nose, Low anterior hairline, Brachycephaly, Clinodactyly of the 5th ...	OMIM:606593
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Wide nasal bridge, Sparse eyebrow, Sandal gap, Fine hair, Supernumerary nipple,...	ORPHA:261349
Mandibuloacral Dysplasia	Alopecia, Contractures of the large joints, Hypoplastic fingernail, Micrognathia, Short clavicles...	ORPHA:2457
Fanconi Anemia, Complementation Group N	Absent thumb, Short thumb, Short neck, Hyperpigmentation of the skin, Hypoplasia of the radius, H...	OMIM:610832
Marbach-Rustad Progeroid Syndrome	Proptosis, Micrognathia, Short clavicles, Femur fracture, Shallow orbits, Reduced bone mineral de...	OMIM:619322
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Low-set ears, Osteopenia, Short toe, Umbilical hernia, Micrognathia, Hirsutism, Joint hypermobili...	OMIM:225410
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Cupped ear, Short thumb, Broad hallux, Preaxial polydactyly, Radi...	OMIM:149730
Momo Syndrome	Wide nasal base, Femoral bowing, Short sternum, Brachycephaly, Large hands, Hyperconvex nail, Con...	ORPHA:2563
Mosaic Trisomy 16	Short forearm, Short thumb, Clinodactyly, Hearing impairment, Large placenta, Abnormal thorax mor...	ORPHA:1708
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Radial club han...	OMIM:276950
Perlman Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Dolichocephaly, Short nose	ORPHA:2849
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Low-set ears, Osteopenia, Slender long bone, Hypertrichosis, Deeply set eye, Joint hypermobility,...	OMIM:618590
Noonan Syndrome 14	Low-set ears, Pectus carinatum, Sparse eyebrow, Clinodactyly, Limited elbow extension, Low poster...	OMIM:619745
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad...	OMIM:600002
Chromosome 18P Deletion Syndrome	Wide nasal bridge, Toe syndactyly, Radial deviation of finger, Micrognathia, Barrel-shaped chest,...	OMIM:146390
Myhre Syndrome	Low-set ears, Clinodactyly, Hearing impairment, Hypoplastic iliac wing, Overlapping toe, Enlarged...	OMIM:139210
Intellectual Developmental Disorder, Autosomal Dominant 51	Wide nasal base, Wide nasal bridge, Sparse lateral eyebrow, Talipes equinovarus, Long toe, Low ha...	OMIM:617788
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Lumbar hyperlordosis, Bone ...	ORPHA:2848
Hajdu-Cheney Syndrome	Low-set ears, Genu valgum, Fibular bowing, Micrognathia, Crowded carpal bones, Absent frontal sin...	OMIM:102500
Ohdo Syndrome, X-Linked	Low-set ears, Wide nasal bridge, Narrow chest, Sparse eyebrow, High anterior hairline, Short thum...	OMIM:300895
Kaposiform Lymphangiomatosis	Fractures of the long bones, Abnormal form of the vertebral bodies, Abnormal scapula morphology, ...	ORPHA:464329
Marshall-Smith Syndrome	Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ...	OMIM:602535
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Wide nasal base, Wide nasal bridge, Facial hypertrichosis, Depressed nasal bridge, Pectus carinat...	ORPHA:397709
Cornelia De Lange Syndrome 6	Low-set ears, Pectus carinatum, Sparse eyebrow, Highly arched eyebrow, Short 1st metacarpal, Macr...	OMIM:620568
Cohen-Gibson Syndrome	Low-set ears, Broad thumb, Small nail, Long ear, Hypoplastic iliac wing, Large hands, Hypertelori...	OMIM:617561
14Q11.2 Microduplication Syndrome	Wide nasal bridge, Highly arched eyebrow, Micrognathia, Depressed nasal bridge	ORPHA:261229
Williams-Beuren Region Duplication Syndrome	Broad nasal tip, Horizontal eyebrow, Long eyelashes, Micrognathia, Brachycephaly	OMIM:609757
Warburg Micro Syndrome 4	Anteverted nares, Prominent nasal bridge, Hirsutism, Low anterior hairline, Severe postnatal grow...	OMIM:615663
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Micrognathia, Cong...	ORPHA:1834
Rothmund-Thomson Syndrome, Type 2	Small hand, Sparse scalp hair, Premature graying of hair, Micrognathia, Sparse eyelashes, Absent ...	OMIM:268400
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, S...	OMIM:180700
Rhyns Syndrome	Osteopenia, Conductive hearing impairment, Radial bowing, Sensorineural hearing impairment, Deepl...	OMIM:602152
Nablus Mask-Like Facial Syndrome	Low-set ears, Joint contracture of the hand, Clinodactyly, Frontal upsweep of hair, Sparse eyelas...	OMIM:608156
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Micrognathia, 2-3 toe syndactyly, ...	ORPHA:476126
Baraitser-Winter Syndrome 1	Wide nasal bridge, Highly arched eyebrow, Postnatal growth retardation, Anteverted nares, Trigono...	OMIM:243310
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Brachycephaly, Frontal bossing, Hip dislocation, Short nose	OMIM:608776
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Bilateral radial aplasia, Low-set ears, Absent thumb, Hypogonadism...	OMIM:300514
Neonatal Adrenoleukodystrophy	Wide nasal bridge, Anteverted nares, Abnormality of retinal pigmentation, Dolichocephaly, Wide an...	ORPHA:44
Fanconi Anemia, Complementation Group P	Absent thumb, Short thumb, Hearing impairment, Vitiligo, Micrognathia, Hypoplasia of the radius, ...	OMIM:613951
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Wide nasal bridge, 11 pairs of ribs, Prominent nasal bridge, Micrognathia, Hyperextensibility of ...	OMIM:618356
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Bilateral conductive hearing impairment, Clinodactyly, Hearing impairment, Overlappin...	ORPHA:488642
Congenital Disorder Of Glycosylation, Type Iq	Depressed nasal bridge, Brachycephaly, Abnormality of skin pigmentation, Hypertrichosis	OMIM:612379
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Hypopigmentation of hair	ORPHA:70472
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Depressed nasal bridge, Sparse eyebrow, Sandal gap, Underdeveloped nasal alae, Frontal...	OMIM:619127
Intellectual Developmental Disorder, Autosomal Dominant 43	Wide nasal bridge, Anteverted nares, Prominent nasal bridge, Hirsutism, Hip dysplasia, Synophrys,...	OMIM:616977
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Sparse eyebrow, Underdeveloped nasal alae, Postnatal growth retardation, Overl...	OMIM:613026
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Atresia of the external auditory canal, Auricular tag...	ORPHA:672
Ablepharon-Macrostomia Syndrome	Low-set ears, Toe syndactyly, Microtia, third degree, Hearing impairment, Microtia, first degree,...	OMIM:200110
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna, Neonatal death	OMIM:276822
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Depressed nasal bridge, Coronal craniosynostosis, Flat occiput, Broa...	OMIM:614188
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Xq28 (MECP2) duplication	Depressed nasal bridge, Brachycephaly	DECIPHER:45
Donnai-Barrow Syndrome	Low-set ears, Proptosis, Hearing impairment, Umbilical hernia, Congenital diaphragmatic hernia, S...	OMIM:222448
Trichohepatoenteric Syndrome 2	Sparse hair, Wide nasal bridge, Depressed nasal bridge, Trichorrhexis nodosa, Uncombable hair, Br...	OMIM:614602
Ceroid Lipofuscinosis, Neuronal, 10	Wide nasal bridge, Split hand, Neonatal death	OMIM:610127
Pfeiffer Syndrome Type 3	Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Depressed nasal brid...	ORPHA:93260
Suleiman-El-Hattab Syndrome	Wide nasal bridge, Highly arched eyebrow, Microretrognathia, Clinodactyly, Thick eyebrow, Hirsuti...	OMIM:618950
Cerebrooculonasal Syndrome	Sparse eyebrow, Proboscis, Postnatal growth retardation, Anteverted nares, Prominent nasal bridge...	OMIM:605627
Scarf Syndrome	Wide nasal bridge, Pectus carinatum, Lambdoidal craniosynostosis, Coronal craniosynostosis, Promi...	OMIM:312830
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Congenital hip dislocation, Depressed nasal ridge, Deviation of finger, Anteve...	ORPHA:2412
Distal Duplication 17Q	Pectus carinatum, Rhizomelia, Low-set, posteriorly rotated ears, Overlapping toe, Genu valgum, Mi...	ORPHA:3379
Cole-Carpenter Syndrome 2	Platyspondyly, Thin ribs, Lambdoidal craniosynostosis, Microretrognathia, Proptosis, Osteopenia, ...	OMIM:616294
Wrinkly Skin Syndrome	Low-set ears, Hypoplasia of the musculature, Talipes equinovarus, Pes planus, Hypertelorism, Spar...	OMIM:278250
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity	ORPHA:1765
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Wide nasal bridge, Highly arched eyebrow, Short thumb, Supernumerary nipple, Anteverted nares, Hy...	OMIM:616728
Hajdu-Cheney Syndrome	Low-set ears, Hearing impairment, Micrognathia, Decreased skull ossification, Bowing of the long ...	ORPHA:955
Insulin-Like Growth Factor I, Resistance To	Wide nasal bridge, Highly arched eyebrow, Small hand, Abnormal rib cage morphology, Clinodactyly,...	OMIM:270450
Trisomy 8Q	Wide nasal bridge, Camptodactyly of finger, Myelomeningocele, Low-set, posteriorly rotated ears, ...	ORPHA:1752
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Limitation of joint mobility, Finger syndactyly, Hearing impairment, Micrognathia, ...	ORPHA:2990
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Brachycephaly, Pectus excavatum, Abnormal digit morphology	OMIM:268850
Bainbridge-Ropers Syndrome	Hand clenching, Supernumerary nipple, Micrognathia, Arachnodactyly, Sparse hair, Short nose, Broa...	OMIM:615485
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Arachnodactyly, Missing ribs, Abnormal rib morphology, Clinod...	ORPHA:2759
Prolidase Deficiency	Palmoplantar keratoderma, Hearing impairment, Proptosis, Abnormal fingernail morphology, Abnormal...	ORPHA:742
Schinzel-Giedion Syndrome	Low-set ears, Abnormal helix morphology, Overlapping toe, Overlapping fingers, Micrognathia, Stre...	ORPHA:798
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Genitopalatocardiac Syndrome	Low-set ears, Wide nasal bridge, Micrognathia, Congenital diaphragmatic hernia, Hypertelorism, Br...	ORPHA:2075
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Conductive hearing impairment, Micrognathia, Congenital diaphragma...	ORPHA:261197
Meier-Gorlin Syndrome 7	Low-set ears, Proptosis, Hearing impairment, Preaxial hand polydactyly, Breast aplasia, Thin eyeb...	OMIM:617063
Fucosidosis	Low-set ears, Generalized amyotrophy, Anterior beaking of thoracic vertebrae, Hearing impairment,...	OMIM:230000
Malan Overgrowth Syndrome	Depressed nasal bridge, Plagiocephaly, Slender long bone, Scaphocephaly, Low posterior hairline, ...	ORPHA:420179
3C Syndrome	Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Hypoplastic fingernail, Postnatal g...	ORPHA:7
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Craniofacial asymmetry, Nail dystrophy, Broad eyebrow,...	OMIM:601088
Wrinkly Skin Syndrome	Low-set ears, Congenital hip dislocation, Sparse hair, Osteopenia, Deep plantar creases, Decrease...	ORPHA:2834
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Anteverted nares, Micrognathia, Clinod...	OMIM:249620
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Hearing impairment, Abnormal tibia morphology, Enlarged vertebral pedic...	ORPHA:666
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Micrognathia, Recurrent fractures, Wrist flexion cont...	OMIM:609465
Rubinstein-Taybi Syndrome	Wide nasal bridge, Highly arched eyebrow, Clubbing of toes, Broad thumb, Finger syndactyly, Abnor...	ORPHA:783
Mosaic Trisomy 1	Hypoplastic thumbnail, Hand clenching, Wide nasal bridge, Toe syndactyly, Depressed nasal bridge,...	ORPHA:1692
Trichohepatoneurodevelopmental Syndrome	Thoracic hypertrichosis, Coarse hair, Bilateral coxa valga, Narrow chest, Plagiocephaly, Bulbous ...	OMIM:618268
Oncogenic Osteomalacia	Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ...	ORPHA:352540
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Microretrognathia, Horizontal eyebrow, Bulbous nose, Overlapping toe, Dolichoc...	OMIM:618571
Global Developmental Delay With Or Without Impaired Intellectual Development	Bulbous nose, Plagiocephaly, Pectus excavatum, Frontal bossing	OMIM:618330
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Osteopenia, Short toe, Large knee, Sensorineural hearing impairment, Clinodactyly ...	OMIM:619269
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Wide nasal bridge, Highly arched eyebrow, Alopecia, Toe syndactyly, Sparse lateral eyebrow, Dystr...	ORPHA:3253
Diamond-Blackfan Anemia 21	Low-set ears, Coarse hair, Horizontal eyebrow, Short toe, Sandal gap, Preaxial hand polydactyly, ...	OMIM:620072
3Mc Syndrome 3	Highly arched eyebrow, Hearing impairment, Clinodactyly, Preaxial polydactyly, Auricular pit, Dia...	OMIM:248340
Distal Deletion 6P	Low-set ears, Abnormal epiphysis morphology, Hearing impairment, Micrognathia, Vertebral segmenta...	ORPHA:96125
Microcephalic osteodysplastic primordial dwarfism, type III	Pectus carinatum, Ulnar deviation of finger, Proptosis, Slender long bone, Hypoplasia of the capi...	OMIM:210730
Alazami Syndrome	Wide nasal bridge, Depressed nasal bridge, Wide nose	OMIM:615071
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small hand, Hypopigmentation of the skin, Hypogonadism, Primary amenorrhea, Hip dyspl...	ORPHA:398069
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly	OMIM:309541
Autosomal Dominant Robinow Syndrome	Low-set ears, Onychogryposis of fingernail, Finger syndactyly, Elbow dislocation, Hearing impairm...	ORPHA:3107
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Low-set ears, Prominent crus of helix, Supernumerary nipple, Genu valgum, Hip contracture, Sensor...	OMIM:619194
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Hearing impairment, Micrognathia, Congenital diaphragmatic hernia,...	ORPHA:280
Cog1-Cdg	Posterior rib gap, Wide nasal bridge, Rhizomelia, Osteopenia, Low-set, posteriorly rotated ears, ...	ORPHA:263508
Chromosome 3Q29 Duplication Syndrome	Low posterior hairline, Bulbous nose, Short nose, Wide nasal bridge	OMIM:611936
Benign Samaritan Congenital Myopathy	Wide nasal bridge, Dolichocephaly	ORPHA:324581
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Prominent nose, Hirsutism, Low anterior hairline, Broad eyebrow, Brachycep...	OMIM:619244
Frontorhiny	Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Low-set, posteriorly rota...	ORPHA:391474
Gorlin Syndrome	Abnormal vertebral morphology, Palmar pits, Wide nasal bridge, Plantar pits, Vertebral wedging, A...	ORPHA:377
Pfeiffer Syndrome Type 2	Deviation of the thumb, Low-set ears, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly,...	ORPHA:93259
Lenz-Majewski Hyperostotic Dwarfism	Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Sensorineural hearing impairm...	OMIM:151050
9Q33.3Q34.11 Microdeletion Syndrome	Highly arched eyebrow, Epistaxis, Plagiocephaly, Patellar hypoplasia, Bulbous nose, Patellar apla...	ORPHA:495818
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Primary amenorrhea, ...	ORPHA:98754
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Anteverted nares, Prominent nasal bridge, Frontal bossing	OMIM:608688
Kinsship Syndrome	Low-set ears, Osteopenia, Cervical ribs, Sacral dimple, Hypertrichosis, Micrognathia, Single tran...	OMIM:619297
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Broad clavicles, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, ...	ORPHA:371428
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Sparse eyebrow, Broad nasal tip, Aplasia/Hypoplasia involving bones of the skull, Plagiocephaly, ...	ORPHA:1521
Genitopatellar Syndrome	Low-set ears, Hypoplastic ilia, Sparse scalp hair, Hearing impairment, Fine hair, Micrognathia, P...	ORPHA:85201
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Wide nasal bridge, Prominent nose	ORPHA:137831
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Synophrys, Supernumerary nipple	OMIM:616083
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Wide nasal bridge, Short distal phalanx of finger, Thick eyebrow, Hirsutism, Broad nail, Synophrys	ORPHA:1970
Chand Syndrome	Short fifth metatarsal, Nail dysplasia, Hypertelorism, Curly hair	ORPHA:1401
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Broad eyebrow, Synophrys	OMIM:618302
Aymé-Gripp Syndrome	Low-set ears, Reduced arm span, Limitation of joint mobility, Congenital diaphragmatic hernia, Se...	ORPHA:1272
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Toe syndactyly, Hypopigmented skin patches, A...	ORPHA:999
Koolen-De Vries Syndrome	Narrow palm, Hip dislocation, Macrotia, Slender finger, Prominent fingertip pads, Positional foot...	OMIM:610443
Cardiofacioneurodevelopmental Syndrome	Aplasia/Hypoplasia of the nails, Micrognathia, Hypotelorism, Protruding ear, Brachydactyly, Hyper...	OMIM:619123
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, High anterior hairline, Prominent fing...	OMIM:620098
Orofaciodigital Syndrome Type 3	Low-set ears, Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excav...	ORPHA:2752
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short 5th finger, Short distal phalanx of finger, Wide nasal bridge, Hypoplastic fingernail, Bulb...	OMIM:220500
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Broad foot, Pes planus, Brachydactyly, Tarsal synostosis	OMIM:617898
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Wide nasal bridge, Highly arched eyebrow, Plagiocephaly, Clinodactyly, Bulbous nose, Thick eyebro...	OMIM:617360
Mulibrey Nanism	Wide nasal bridge	ORPHA:2576
Congenital Disorder Of Glycosylation, Type Iit	Small hand, Sandal gap, Prominent nasal bridge, Brachycephaly, Short foot	OMIM:618885
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Hyperteloris...	OMIM:269150
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip, Short nose	OMIM:615716
49,Xxxyy Syndrome	Wide nasal bridge, Recurrent upper respiratory tract infections, Narrow chest, Finger clinodactyl...	ORPHA:261534
Tetrasomy 15Q26	Low-set ears, Microretrognathia, Cupped ear, Kyphoscoliosis, Arachnodactyly, Hypertelorism, Campt...	OMIM:614846
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Primary amenorrhea, ...	ORPHA:98793
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Low-set ears, Congenital hip dislocation, Wide nasal bridge, Absent nipple, Umbilical hernia, Cub...	OMIM:104350
Waardenburg Syndrome, Type 1	Wide nasal bridge, Underdeveloped nasal alae, Premature graying of hair, Partial albinism, Thick ...	OMIM:193500
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Fibular aplasia, Micrognathia, Arachnodactyly, Talip...	OMIM:300373
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Unilateral facial palsy, Absent radius, Absent scaphoid, ...	OMIM:617247
Arteriosclerosis, Severe Juvenile	Dysplasia of second lumbar vertebra, Short phalanx of finger, Hip dysplasia	OMIM:208060
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Small hand, Osteopenia, Broad femoral neck, Distal shortening of ...	ORPHA:488434
Carpenter Syndrome 2	Broad thumb, Supernumerary nipple, Narrow naris, Cutaneous finger syndactyly, Talipes equinovarus...	OMIM:614976
Trisomy 18P	Wide nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Micrognathia, Abnormal finge...	ORPHA:1715
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Wide nasal bridge, Depressed nasal ridge, Broad thumb, Finger syndactyly, Preaxial hand polydacty...	ORPHA:2211
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Micrognathia, Hypoplastic nipples, Brachycephaly, Long fingers, Pectus ex...	OMIM:156610
Geleophysic Dysplasia 2	Cone-shaped epiphysis, Limitation of joint mobility, Joint stiffness, Ovoid vertebral bodies, Sho...	OMIM:614185
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, High anterior hairline, Plagiocephaly	OMIM:618862
Apert Syndrome	Choanal atresia, Depressed nasal bridge, Broad thumb, Toe syndactyly, Micromelia, Finger syndacty...	ORPHA:87
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Primary amenorrhea, ...	ORPHA:177904
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Hearing impairment, White hair, Camptodactyly of finger, Tracheomalac...	ORPHA:896
Craniofacial Dyssynostosis With Short Stature	Abnormal shape of the occiput, Brachycephaly, Frontal bossing, Brachyturricephaly	OMIM:218350
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Abnormal rib morphology, Pre...	OMIM:192350
Monosomy 9P	Highly arched eyebrow, Choanal atresia, Depressed nasal bridge, Abnormal rib morphology, Trigonoc...	ORPHA:261112
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly of foot, Preax...	OMIM:263520
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Primary amenorrhea, ...	ORPHA:177901
Waardenburg Syndrome	Wide nasal bridge, Hypopigmented skin patches, Underdeveloped nasal alae, Premature graying of ha...	ORPHA:3440
Simosa Craniofacial Syndrome	Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Underdeveloped nasal alae, Abnormal hai...	OMIM:182150
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Say-Barber-Miller Syndrome	Abnormality of the hairline, Micrognathia, Deeply set eye, Hypertelorism, Thoracic kyphoscoliosis...	ORPHA:3132
Intellectual Developmental Disorder, Autosomal Dominant 64	Depressed nasal bridge, Plagiocephaly, Prominent fingertip pads, Bulbous nose, Anteverted nares, ...	OMIM:619188
Neurofaciodigitorenal Syndrome	Plagiocephaly, Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Brachycephal...	ORPHA:2673
Noonan Syndrome	Micrognathia, Sensorineural hearing impairment, Low posterior hairline, Radioulnar synostosis, Hy...	ORPHA:648
Orofaciodigital Syndrome Iv	Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial po...	OMIM:258860
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Aplasia of the epiglottis, Po...	OMIM:617088
Pyruvate Dehydrogenase Deficiency	Wide nasal bridge, Osteolytic defects of the middle phalanx of the 4th toe, Trigonocephaly, Pectu...	ORPHA:765
Neu-Laxova Syndrome 2	Low-set ears, Toe syndactyly, Proptosis, Finger syndactyly, Micrognathia, Short neck, Spina bifid...	OMIM:616038
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Polydactyly, Hypertelori...	ORPHA:59315
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Wide nasal bridge, Sparse eyebrow, Sparse eyelashes, Arachnodactyly, Long toe, Abnormality of ski...	ORPHA:75496
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Depressed nasal bridge, Broad thumb, Plagiocephaly, Short thumb, Broad hallux, Bulbous nose, Ante...	OMIM:620224
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Wide nasal bridge, Broad femoral neck, Hearing impairment, Proptosis, Broad ribs, ...	OMIM:619727
Intellectual Developmental Disorder, Autosomal Recessive 38	Sandal gap, Plagiocephaly, Blue irides	OMIM:615516
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Low-set ears, Wide nasal bridge, Joint contracture of the hand, Small hand, Conductive hearing im...	OMIM:235510
Alg9-Cdg	Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Micrognathia, Low posterior hairl...	ORPHA:79328
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Highly arched eyebrow, Short distal phalanx of finger, Broad nasal tip, Plagio...	OMIM:239300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Hip dislocation, Coxa valga	OMIM:109120
Intellectual Developmental Disorder, Autosomal Dominant 61	Wide nasal bridge, Prominent nasal bridge, Synophrys	OMIM:618009
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Short foot, Plagiocephaly, Short palm	OMIM:614563
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Wide nasal bridge, Abnormal epiphysis morphology, Hypopigmented skin patches, Fine hair, Micromel...	ORPHA:2637
Bohring-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Short toe, Hypertrichosis, Supernumerary nipple, Trigo...	OMIM:605039
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Multiple lentigines, Vitiligo, Kyphoscoliosis, Hip dislocation	ORPHA:101003
Intellectual Developmental Disorder, Autosomal Dominant 39	Bilateral talipes equinovarus, Wide nasal base, Wide nasal bridge	OMIM:616521
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Endocrine-Cerebroosteodysplasia	Wide nasal bridge, Narrow chest, Sandal gap, Micromelia, Preaxial polydactyly, Depressed nasal ti...	OMIM:612651
Ring Chromosome 7 Syndrome	Short 5th finger, Highly arched eyebrow, Small hand, Slender finger, Wide nasal bridge, Plagiocep...	ORPHA:1449
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Radial deviation of finger, Clinodactyly, Umbilical hernia, Kyphoscoliosis, Absent ...	OMIM:301040
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly	ORPHA:93950
Prader-Willi Syndrome	Osteopenia, Small hand, Hypopigmentation of the skin, Hypogonadism, Increased susceptibility to f...	ORPHA:739
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Fetal Akinesia Deformation Sequence 1	Thin ribs, Low-set ears, Decreased muscle mass, Micrognathia, Hip contracture, Talipes equinovaru...	OMIM:208150
Wiedemann-Steiner Syndrome	Wide nasal bridge, Rhizomelia, Clinodactyly, Postnatal growth retardation, Long eyelashes, Thick ...	ORPHA:319182
Craniolenticulosutural Dysplasia	Narrow chest, Posterior wedging of vertebral bodies, High iliac wing, Coarse hair, Decreased skul...	ORPHA:50814
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flared nostrils, Anteverted nares, Frontal bossing, Wide nasal bridge	OMIM:312170
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Short tibia, Bell-shaped thorax, Encephalocele, Hypertelorism, Flat acetabular roof, Macrotia, Sp...	OMIM:616300
Adnp Syndrome	Depressed nasal bridge, High anterior hairline, Broad thumb, Recurrent upper respiratory tract in...	ORPHA:404448
Goldberg-Shprintzen Megacolon Syndrome	Wide nasal bridge, Sparse eyebrow, Finger syndactyly, Sparse scalp hair	ORPHA:66629
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Shoulder flexion contracture, Underdeveloped nasal alae, Ulnar deviation of th...	OMIM:193700
Oculocerebrofacial Syndrome, Kaufman Type	Thin eyebrow, Micrognathia, Arachnodactyly, Brachycephaly, Absent eyebrow, Flat occiput	ORPHA:2707
Noonan Syndrome With Multiple Lentigines	Wide nasal bridge, Pectus carinatum, Multiple lentigines, Melanocytic nevus, Brachycephaly, Spren...	ORPHA:500
Deafness-Craniofacial Syndrome	Wide nasal bridge, Temporal hypotrichosis, Frontal bossing, Underdeveloped nasal alae	ORPHA:3241
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Wide nasal bridge, Sandal gap, Arachnodactyly, Talipes equinovarus, Hip dysplasia, Camptodactyly,...	OMIM:617146
Verheij Syndrome	Short 5th finger, Wide nasal bridge, Broad nasal tip, Clinodactyly, Anteverted nares, Hip disloca...	OMIM:615583
Turnpenny-Fry Syndrome	Pectus carinatum, Small hand, Narrow chest, Plagiocephaly, Clinodactyly, Melanocytic nevus, Overl...	OMIM:618371
Chops Syndrome	Coarse hair, Proptosis, Hearing impairment, Tracheomalacia, Long eyelashes, Thick eyebrow, Cervic...	OMIM:616368
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Small hand, Plagiocephaly, Clinodactyly, Sandal gap, Long eyelashes, Short foot, Tapered finger	OMIM:618089
Lymphedema-Hypoparathyroidism Syndrome	Wide nasal bridge, Brachydactyly, Hypertrichosis	OMIM:247410
Meier-Gorlin Syndrome 3	Low-set ears, Narrow chest, Microretrognathia, Sparse pubic hair, Slender long bone, Patellar hyp...	OMIM:613803
Lacrimoauriculodentodigital Syndrome	Low-set ears, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Sensorineural hearin...	ORPHA:2363
Dahlberg-Borer-Newcomer Syndrome	Wide nasal bridge, Short distal phalanx of finger, Generalized hirsutism, Anonychia, Brachydactyly	ORPHA:1563
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Pectus carinatum, Broad nasal tip, Abnormal sternum morphology, Cranial asymmetry	ORPHA:137634
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Wide nasal bridge, Clubbing of toes, Micrognathia, 2-3 toe syndactyly, Hypoplastic nasal tip, Fro...	ORPHA:3304
Chime Syndrome	Sparse hair, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle...	ORPHA:3474
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Postnatal growth retardation, Anteverted nares, Micrognathia, Short stern...	OMIM:257300
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Hypoplasia of the ear cartilage, Broad thumb, Camptodactyly of finger, Large earlobe, Supernumera...	ORPHA:1236
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Broad phalanges of the hand, Broad ribs, Brachycephaly, Brachydactyly, Br...	OMIM:277600
Simpson-Golabi-Behmel Syndrome	Abnormal helix morphology, Broad thumb, Toe syndactyly, Finger syndactyly, Small nail, Supernumer...	ORPHA:373
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Posterior plagiocephaly, Short lower limbs, Abnormal fibular epiphysis...	ORPHA:96190
Marden-Walker Syndrome	Low-set ears, Pectus carinatum, Aplasia/Hypoplasia involving the skeletal musculature, Muscular d...	ORPHA:2461
Acromelic Frontonasal Dysostosis	Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Short tibia, Patellar hypoplasia, Preaxial h...	OMIM:603671
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Wide nasal bridge, Sparse eyebrow, Anteverted nares, Micrognathia, Neonatal death, Brittle hair	OMIM:618810
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Joubert Syndrome 28	Wide nasal bridge, Highly arched eyebrow, Pigmentary retinopathy	OMIM:617121
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Sparse eyebrow, Depressed nasal bridge, Anteverted nares, Micrognathi...	OMIM:244450
Lethal Congenital Contracture Syndrome 9	Low-set ears, Increased variability in muscle fiber diameter, Joint contracture of the hand, Cent...	OMIM:616503
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Sensorineural hearing impairment, Low posterior hairline, Ta...	OMIM:194190
Hypomandibular Faciocranial Dysostosis	Trigonocephaly, Anteverted nares, Brachycephaly, Choanal stenosis, Craniosynostosis, Short nose	ORPHA:1790
Myoclonic-Astatic Epilepsy	Wide nasal bridge, Frontal balding, Thick nasal alae, Anteverted nares, Syndactyly	ORPHA:1942
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, High anterior hairline, Hypoplastic coccygeal vertebrae, Plagiocephal...	OMIM:619512
Intellectual Developmental Disorder With Autism And Macrocephaly	Wide nasal bridge, Wide nose	OMIM:615032
Loeys-Dietz Syndrome 5	Pectus carinatum, Bilateral coxa valga, Prominent nasal bridge, Arachnodactyly, Talipes equinovar...	OMIM:615582
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Low-set ears, Small hand, Clinodactyly, Hearing impairment, Small nail, Overlapping toe, Microgna...	OMIM:309590
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Pectus carinatum, Anteverted nares, Short nose, Syndac...	OMIM:616430
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Plagiocephaly, Short nose, Long eyelashes, Thick eyebrow, Micrognathia, A...	OMIM:619833
Heart And Brain Malformation Syndrome	Wide nasal bridge, Hand clenching, Depressed nasal bridge, Camptodactyly of finger, Anteverted na...	OMIM:616920
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Wide nasal bridge, Microretrognathia, Clinodactyly, Down-sloping shoulders, Scapular winging, Tap...	OMIM:615560
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Sandal gap, Widely spaced toes, Alopecia totalis, Neonatal death, Mitten de...	OMIM:609638
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Low-set ears, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Tali...	OMIM:119800
Lissencephaly, X-Linked, 2	Wide nasal bridge, Prominent nasal bridge, Micrognathia, Wide anterior fontanel	OMIM:300215
Mucolipidosis Type Ii	Dry hair, Limitation of joint mobility, White hair, Hip contracture, Sensorineural hearing impair...	ORPHA:576
Mucopolysaccharidosis-Plus Syndrome	Wide nasal bridge, Pectus carinatum, Coarse hair, Long eyelashes, Wide nose, Acetabular dysplasia...	OMIM:617303
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Hearing impairment, Atresia of the external auditory canal, Tracheomala...	ORPHA:268249
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Highly arched eyebrow, Finger syndactyly, Short toe, Thick eyebrow, Prominent ...	ORPHA:1519
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Congenital hip dislocation, Ulnar deviation of the 2nd finger, Mild postnatal growth retardation,...	ORPHA:456312
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ...	OMIM:123500
Holoprosencephaly-Caudal Dysgenesis Syndrome	Low-set ears, Proptosis, Radial club hand, Abnormal morphology of the radius, Hypertelorism, Cycl...	ORPHA:2165
White-Sutton Syndrome	Depressed nasal bridge, Broad thumb, Broad nasal tip, Hypoplastic cervical vertebrae, Depressed n...	OMIM:616364
Oculoskeletodental Syndrome	Wide nasal bridge, Broad columella, Thoracic hypoplasia, Abnormal sternum morphology, Low anterio...	OMIM:618440
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Choanal atresia, Plagiocephaly, Hypertrichosis, Low posterior hairline, Sprengel anomaly, Pectus ...	OMIM:619227
Limb Body Wall Complex	Progressive congenital scoliosis, Cutaneous finger syndactyly, Aplasia/hypoplasia involving bones...	ORPHA:2369
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Microretrognathia, Plagiocephaly, Short columella, Turricephaly, Talipes equin...	OMIM:613603
Cerebellar-Facial-Dental Syndrome	Low-set ears, Wide nasal bridge, Sparse eyebrow, Foot joint contracture, Slender long bone, Fine ...	ORPHA:444072
Alkuraya-Kucinskas Syndrome	Hand clenching, Depressed nasal bridge, Plagiocephaly, Clinodactyly, Overlapping toe, Overlapping...	OMIM:617822
Primrose Syndrome	Hearing impairment, Sparse body hair, Genu valgum, Hip contracture, Deeply set eye, Absent axilla...	OMIM:259050
Multiple Pterygium-Malignant Hyperthermia Syndrome	Onychogryposis of fingernail, Ulnar deviation of finger, Ridged fingernail, Plagiocephaly, Finger...	ORPHA:2215
Congenital Neuronal Ceroid Lipofuscinosis	Wide nasal bridge, Split hand	ORPHA:168486
Spastic Paraplegia 52, Autosomal Recessive	Wide nasal bridge, Talipes equinovarus, Prominent nose, Bulbous nose	OMIM:614067
Robinow Syndrome	Low-set ears, Small nail, Micrognathia, Hypertelorism, Mesomelic arm shortening, Short nose, Synd...	ORPHA:97360
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Fontaine Progeroid Syndrome	Low-set ears, Small nail, Micrognathia, Neonatal death, Low posterior hairline, Hypertelorism, Sh...	OMIM:612289
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Highly arched eyebrow, Plagiocephaly, Anteverted nares, Prominent nasal bridge,...	ORPHA:500159
Kleefstra Syndrome 1	Anteverted nares, Talipes equinovarus, Brachycephaly, Brachydactyly, Synophrys	OMIM:610253
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Depressed nasal bridge, Sparse eyebrow, Toe syndactyly, Broad thumb, Plagiocephaly, Underdevelope...	OMIM:619720
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Hearing impairment, Hyperpigmentation of the skin, Absent radius, Cafe...	OMIM:227645
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Low-set ears, Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Occipital mening...	OMIM:616546
Meckel Syndrome 14	Low-set ears, Postaxial foot polydactyly, Microretrognathia, Occipital encephalocele, Micrognathi...	OMIM:619879
Doors Syndrome	Wide nasal base, Toenail dysplasia, Abnormal toenail morphology, Aplasia/Hypoplasia of the phalan...	ORPHA:79500
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Abnormality of the hairline, Prominent nose, Scaphocephaly, Cranial asymmetry,...	OMIM:614886
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Wide nasal bridge, Highly arched eyebrow, Anteverted nares, Micrognathia	OMIM:618342
Developmental And Epileptic Encephalopathy 66	Wide nasal bridge, Clinodactyly of the 5th finger, Synophrys	OMIM:618067
Relapsing Polychondritis	Chondritis of pinna, Biparietal narrowing, Sensorineural hearing impairment	ORPHA:728
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Abnormal shoulder morphology, Abnormal hip joint morphology, ...	ORPHA:85408
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Abnormal position of hair whorl	ORPHA:85290
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Abnormal bone ossification, Genu varum, Macr...	ORPHA:99646
Peroxisome Biogenesis Disorder 13A (Zellweger)	Wide nasal bridge, Depressed nasal bridge, Micrognathia, Neonatal death, Dolichocephaly, Flat occ...	OMIM:614887
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Wide nasal bridge, Sandal gap, Clinodactyly, Broad hallux, 3-4 toe syndactyly, Thick nasal alae, ...	OMIM:618727
Intellectual Developmental Disorder, Autosomal Dominant 29	Broad hallux, Sandal gap, Cutaneous finger syndactyly, Wide nose, Hirsutism, Brachycephaly, Hip d...	OMIM:616078
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Broad nasal tip, Depressed nasal tip, Contracture of the proximal interph...	OMIM:618223
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Brachycephaly, Long fingers, Calcaneovalgus deformity, Tapered finger	ORPHA:521445
Hypoglossia-Hypodactyly Syndrome	Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndacty...	ORPHA:989
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Finger syndactyly, Small nail, Micromelia, Abnormal fingernail morphology, Mic...	ORPHA:1908
Fetal Akinesia Deformation Sequence 2	Wide nasal bridge, Micrognathia	OMIM:618388
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Plagiocephaly, Sparse lateral e...	OMIM:280000
Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Wide nasal bridge, Highly arched eyebrow, Cupped ear, Broad hallux, Umbilical herni...	OMIM:617062
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Wide nasal bridge, Sparse eyebrow, Micrognathia, Sparse eyelashes, Rocker bottom foot, Tapered fi...	OMIM:620070
Ear-Patella-Short Stature Syndrome	Low-set ears, Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow dislocat...	ORPHA:2554
Peroxisome Biogenesis Disorder 2B	Wide nasal bridge, Dolichocephaly, Anteverted nares, Frontal bossing	OMIM:202370
Oslam Syndrome	Radioulnar synostosis, Radial deviation of finger, Clinodactyly	OMIM:165660
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Wide nasal bridge, Clinodactyly	OMIM:620316
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Wide nasal bridge, Sparse eyebrow, Coarse hair, Dystrophic toenail, Finger syndactyly, Supernumer...	ORPHA:1071
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Wide nasal bridge, Broad nasal tip, Horizontal eyebrow, Bulbous nose, Overlapping toe, Long eyela...	OMIM:620475
Coffin-Siris Syndrome 12	Low-set ears, Broad thumb, Small nail, Micrognathia, Sensorineural hearing impairment, Deeply set...	OMIM:619325
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Proptosis, Sandwich appearance of vertebral bodies, Flared ...	OMIM:620558
Aminoacylase 1 Deficiency	Wide nasal bridge	OMIM:609924
Cardiospondylocarpofacial Syndrome	Low-set ears, Carpal synostosis, Recurrent otitis media, Congenital diaphragmatic hernia, Enlarge...	OMIM:157800
Mosaic Trisomy 20	Narrow chest, Clinodactyly, Hearing impairment, Spinal canal stenosis, Micrognathia, Vertebral se...	ORPHA:1724
Degcags Syndrome	Low-set ears, Toe syndactyly, Hearing impairment, Premature graying of hair, Genu valgum, Microgn...	OMIM:619488
Stickler Syndrome	Hearing impairment, Genu valgum, Micrognathia, Sensorineural hearing impairment, Arachnodactyly, ...	ORPHA:828
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Low-set ears, Sparse eyebrow, Proptosis, Long foot, Joint hypermobility, Arachnodactyly, Posterio...	OMIM:617011
Fanconi Anemia, Complementation Group L	Low-set ears, Wide nasal bridge, Absent thumb, Hypoplastic sacrum, Anotia, Micrognathia, Short ne...	OMIM:614083
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Abnor...	ORPHA:2908
Tolchin-Le Caignec Syndrome	Wide nasal bridge, Oxycephaly, Prominent nose, Thick eyebrow, Micrognathia, Scaphocephaly, Promin...	OMIM:618971
Deafness, X-Linked 7	Wide nasal bridge, Thick eyebrow	OMIM:301018
Coffin-Siris Syndrome 1	Facial hypertrichosis, Dry hair, Sparse scalp hair, Postnatal growth retardation, Hypoplastic fif...	OMIM:135900
Neuhauser Syndrome	Wide nasal bridge, Depressed nasal bridge, Genu valgum, Micrognathia, Low anterior hairline, Arac...	OMIM:249310
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Wide nasal bridge, Anteverted nares, Thick eyebrow, Micrognathia, Synophrys	OMIM:602562
Schimke Immunoosseous Dysplasia	Wide nasal bridge, Depressed nasal bridge, Shallow acetabular fossae, Coarse hair, Fine hair, Hyp...	OMIM:242900
De Barsy Syndrome	Congenital hip dislocation, Postnatal growth retardation, Talipes equinovarus, Brachycephaly, Add...	ORPHA:2962
Osteogenesis Imperfecta, Type Xi	Brachycephaly, Protrusio acetabuli, Coxa vara	OMIM:610968
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Wide nasal bridge, Prominent nasal bridge	OMIM:619556
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Bulbous nose, Long eyelashes...	OMIM:615803
Branchio-Oculo-Facial Syndrome	Wide nasal bridge, Broad nasal tip, Preaxial hand polydactyly, Premature graying of hair, Fingern...	ORPHA:1297
Baraitser-Winter Cerebrofrontofacial Syndrome	Wide nasal bridge, Highly arched eyebrow, Trigonocephaly, Depressed nasal tip, Prominent nose, Sh...	ORPHA:2995
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hyperpigmented/hypopigmented macules, Proximal muscle weakness in lower limbs, Small hand, Large ...	ORPHA:280633
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Frontal balding, Overlapping toe, Micrognathia, Prominent fingertip pads, Mesoaxial ...	OMIM:612474
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Asymmetry of the thorax, Sparse eyebrow, Proptosis, Limitation of joint mobility, Long foot, Low-...	ORPHA:457359
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Highly arched eyebrow, Small hand, Bulbous nose, Thick eyebrow, Prominent nasa...	OMIM:609460
Angelman Syndrome	Hypopigmentation of the skin, Fair hair, Brachycephaly, Blue irides, Flat occiput	OMIM:105830
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, ...	OMIM:617809
Kleefstra Syndrome 2	Thick eyebrow, Plagiocephaly	OMIM:617768
Diamond-Blackfan Anemia 8	Wide nasal bridge, Short nose	OMIM:612563
X-Linked Intellectual Disability, Snyder Type	Pectus carinatum, Sparse eyebrow, Bulbous nose, Anteverted nares, Prominent nasal bridge, Arachno...	ORPHA:3063
Alpha-Mannosidosis, Infantile Form	Highly arched eyebrow, Depressed nasal bridge, Pectus carinatum, Cranial hyperostosis, Genu valgu...	ORPHA:309282
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Micrognathia, Low hanging columella	OMIM:620157
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Broad fo...	OMIM:201750
Cranioectodermal Dysplasia 2	Clinodactyly, Micrognathia, Sparse eyelashes, Sparse hair, Cloverleaf skull, Syndactyly, Sparse e...	OMIM:613610
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Death in infancy, Decreased skull ossification, ...	OMIM:602361
Mucopolysaccharidosis, Type X	Wide nasal bridge, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate...	OMIM:619698
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Short nose	OMIM:620292
Camptodactyly Syndrome, Guadalajara, Type Iii	Joint contracture of the hand, Small hypothenar eminence, Short neck, Small thenar eminence, Tort...	OMIM:611929
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Wide nasal bridge, Alopecia, Prominent nasal bridge, Sparse eyelashes, Absent eyelashes, Absent e...	OMIM:137940
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly, Tapered finger	ORPHA:261652
Pallister-Killian Syndrome	Low-set ears, Hyperpigmented streaks, Small hand, Postaxial foot polydactyly, Sparse scalp hair, ...	OMIM:601803
15Q Overgrowth Syndrome	Wide nasal bridge, Microretrognathia, Contracture of the proximal interphalangeal joint of the 2n...	ORPHA:314585
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Hand muscle atrophy, Overfriendliness, Arachnodactyly...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Hand muscle atrophy, Overfriendliness, Arachnodactyly...	ORPHA:363958
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Depressed nasal bridge, Plagiocephaly, Underdeveloped nasal alae, Long eye...	OMIM:619005
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Faciocardiomelic Syndrome	Osteopenia, Narrow chest, Slender long bone, Micrognathia, Hypoplastic pelvis, Cuboid-shaped vert...	OMIM:612731
Orofaciodigital Syndrome Type 1	Wide nasal bridge, Choanal atresia, Alopecia, Coarse hair, Cone-shaped epiphysis, Finger syndacty...	ORPHA:2750
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the frontal bone, Sparse eyebrow, Cond...	ORPHA:306542
Beck-Fahrner Syndrome	Brachycephaly, Hip dysplasia	OMIM:618798
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Wide nasal bridge, Depressed nasal bridge, Short distal phalanx o...	ORPHA:221139
Flat Face-Microstomia-Ear Anomaly Syndrome	Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Underdeveloped nasal alae, Camptodactyl...	ORPHA:1968
Kleefstra Syndrome Due To 9Q34 Microdeletion	Highly arched eyebrow, Anteverted nares, Brachycephaly, Synophrys, Short nose, Flat occiput	ORPHA:96147
Jung Syndrome	Low posterior hairline, Depressed nasal bridge, Wide nasal bridge	ORPHA:2321
Radial-Renal Syndrome	Absent thumb, Abnormal pinna morphology, Absent radius	OMIM:179280
Intellectual Developmental Disorder, Autosomal Recessive 70	Wide nasal bridge	OMIM:618402
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Macroglossia, Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Abnormal thumb mo...	ORPHA:500095
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Spontaneous, recurrent epistaxis	OMIM:614072
Intellectual Developmental Disorder, X-Linked, Syndromic 35	2-3 toe cutaneous syndactyly, Wide nasal bridge, Cutaneous syndactyly of toes, Microretrognathia,...	OMIM:300998
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Bilateral choanal atresia, Supernumerary nipple, Sparse body hair, Nail dystro...	OMIM:106260
Rauch-Steindl Syndrome	Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Postnatal growth retardation, M...	OMIM:619695
Menkes Disease	Narrow chest, Umbilical hernia, Osteomyelitis, Micrognathia, Joint hypermobility, Bowing of the l...	ORPHA:565
Immunodeficiency 59 And Hypoglycemia	Wide nasal bridge, Slender finger, High anterior hairline, Recurrent upper respiratory tract infe...	OMIM:233600
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Atypical Werner Syndrome	Limitation of joint mobility, Premature graying of hair, Abnormal hair morphology, Sparse body ha...	ORPHA:79474
Developmental And Epileptic Encephalopathy 89	Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Depressed nasal bridge, Narrow chest, M...	OMIM:619124
Adenylosuccinase Deficiency	Brachycephaly, Anteverted nares, Short nose	OMIM:103050
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Wide nasal bridge	OMIM:619595
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Wide nasal bridge, Toe syndactyly, Hypoplasia of the radius, Clinodactyly of the 5th finger, Lop ear	ORPHA:140952
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Alopecia, Micrognathia, Sparse eyelashes	OMIM:616367
Short Syndrome	Wide nasal bridge, Radial deviation of finger, Slender long bone, Clinodactyly, Underdeveloped na...	OMIM:269880
Liang-Wang Syndrome	Wide nasal bridge, Synophrys	OMIM:618729
Arthrogryposis Multiplex Congenita 5	Wide nasal bridge, Hand clenching, Anteverted nares, Micrognathia, Prominent nasolabial fold, 11 ...	OMIM:618947
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Wide nasal bridge, Micrognathia, Frontal bossing	ORPHA:2575
Takenouchi-Kosaki Syndrome	Flared nostrils, Highly arched eyebrow, Sparse eyebrow, Wide nasal bridge, Clinodactyly, Abnormal...	OMIM:616737
Distal Deletion 12Q	Small nail, Fine hair, Broad hallux, Bulbous nose, Overlapping toe, Anteverted nares, Micrognathi...	ORPHA:96149
Coffin-Siris Syndrome 4	Short 5th finger, Wide nasal bridge, Depressed nasal bridge, Hypertrichosis, Thick nasal alae, Lo...	OMIM:614609
Chromosome 15Q11.2 Deletion Syndrome	Slender finger, Plagiocephaly, Clinodactyly, Short finger, Bulbous nose, Narrow nose, Micrognathi...	OMIM:615656
Intellectual Developmental Disorder, Autosomal Dominant 48	Highly arched eyebrow, Plagiocephaly, Anteverted nares, Prominent nasal bridge, Low hanging colum...	OMIM:617751
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Plagiocephaly, Brachycephaly, Hip dysplasia, Short foot	ORPHA:500055
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Wide nasal bridge, Anteverted nares, Underdeveloped nasal alae	OMIM:616158
Fryns Syndrome	Thin ribs, Low-set ears, Joint contracture of the hand, Abnormal helix morphology, Small nail, Sh...	OMIM:229850
Acrocardiofacial Syndrome	Wide nasal bridge, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Long eyelashes, Ab...	ORPHA:2008
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Wide nasal bridge, Sparse eyebrow, High anterior hairline, Short thumb, Supernumerary nipple, Hyp...	ORPHA:477993
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Low posterior hairline, Genu valgum, Wide nasal bridge	ORPHA:1778
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Anteverted nares, Plagiocephaly, Small nail	OMIM:618731
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Low-set ears, Broad thumb, Broad phalanx of the toes, Hypertelorism, Cl...	ORPHA:79076
Sialidosis Type 1	Wide nasal bridge, Pectus carinatum, Frontal bossing, Short thorax	ORPHA:812
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Camptodactyly, Talipes equinovarus, Wide nasal bridge	OMIM:617333
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Flared nostrils, Small hand, Overlapping toe, Curly hair, Short foot, Slender fi...	ORPHA:480880
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Hearing impairment, Supernumerary nipple, Congenital diaphragmatic hernia, Broad foo...	OMIM:312870
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 2nd finger, Postnatal growth retardation, Ulnar deviation of the 3rd finge...	OMIM:616263
Zellweger Syndrome	Wide nasal bridge, Depressed nasal bridge, Epiphyseal stippling, Micrognathia, Brushfield spots, ...	ORPHA:912
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Broad thumb, Toe syndactyly, Bulbous nose, Clinodactyly of the 5th finger, Tal...	ORPHA:250989
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Abnormality of the hairline, Sensorineural hearing impairment, ...	OMIM:607872
Intellectual Developmental Disorder, Autosomal Dominant 58	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Few cafe-au-lait spots, Hypoplastic fifth toenail	OMIM:618106
Intellectual Disability-Strabismus Syndrome	Highly arched eyebrow, Depressed nasal bridge, Plagiocephaly, Prominent nose, Micrognathia, Talip...	ORPHA:363528
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Nail dysplasia, Trichodysplasia, Brachycephaly, Absent eyebrow, Camptodactyly	OMIM:601701
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Wide nasal bridge, Depressed nasal bridge	OMIM:615760
Monosomy 13Q14	Low-set ears, Wide nasal bridge, Finger syndactyly, Micrognathia, Protruding ear, Aplasia/Hypopla...	ORPHA:1587
Rubinstein-Taybi Syndrome 1	Facial hypertrichosis, Broad thumb, Hypoplastic iliac wing, Postnatal growth retardation, Microgn...	OMIM:180849
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Postnatal growth retardation, Prominent nasal ...	OMIM:300749
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Prominent ear helix, Alopecia totalis, Limited hip movement, Microg...	ORPHA:740
Phelan-Mcdermid Syndrome	Wide nasal bridge, Toenail dysplasia, Bulbous nose, Long eyelashes, Thick eyebrow, Micrognathia, ...	OMIM:606232
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Absent hand, Ameli...	ORPHA:2538
Elsahy-Waters Syndrome	Wide nasal bridge, Bifid nasal tip, Shortening of all phalanges of fingers, Bulbous nose, Cutaneo...	OMIM:211380
Short Syndrome	Wide nasal bridge, Alopecia, Brachydactyly, Sparse hair, Short palm	ORPHA:3163
Hengel-Maroofian-Schols Syndrome	Wide nasal bridge, Thick eyebrow, Synophrys	OMIM:619641
Peroxisome Biogenesis Disorder 1A (Zellweger)	Pigmentary retinopathy, Rocker bottom foot, Brachyturricephaly, Ulnar deviation of the hand or of...	OMIM:214100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Wide nasal bridge, High anterior hairline, Broad nasal tip, Horizontal eyebrow, Sparse lateral ey...	OMIM:619950
Meckel Syndrome 12	Wide nasal bridge, Anteverted nares, Rocker bottom foot, Micrognathia	OMIM:616258
Meester-Loeys Syndrome	Broad distal phalanx of finger, Proptosis, Abnormal sternum morphology, Umbilical hernia, Hypertr...	OMIM:300989
Down Syndrome	Depressed nasal ridge, Depressed nasal bridge, Sandal gap, Brachycephaly, Brachydactyly, Clinodac...	ORPHA:870
Nance-Horan Syndrome	Short phalanx of finger, Broad finger, Macrotia	OMIM:302350
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Prominent eyelashes, Trigonocephaly, Prominent nasal bridge, Short nose	OMIM:619179
Macs Syndrome	Wide nasal bridge, Alopecia, Sparse eyebrow, Micrognathia, Brachydactyly, Pectus excavatum, Spars...	OMIM:613075
15q26 overgrowth syndrome	Wide nasal bridge, High anterior hairline, Camptodactyly of finger, Bulbous nose, Prominent nose,...	DECIPHER:81
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Anteverted nares, Short nose	OMIM:618437
Joubert Syndrome 3	Wide nasal bridge, Highly arched eyebrow, Pigmentary retinopathy, Anteverted nares	OMIM:608629
Dihydropyrimidinase Deficiency	Talipes equinovarus, Short phalanx of finger	OMIM:222748
Ring Chromosome 13 Syndrome	Wide nasal bridge, Depressed nasal bridge, Alopecia, Frontal bossing, Aplasia/hypoplasia involvin...	ORPHA:96176
Den Hoed-De Boer-Voisin Syndrome	Small hand, Sandal gap, Thick eyebrow, 2-3 toe syndactyly, Brachycephaly, Short foot, Widow's peak	OMIM:619229
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Limitation of joint mobility, Ocular albinism, Abnormal thumb morphology, ...	ORPHA:2719
Branchioskeletogenital Syndrome	Highly arched eyebrow, Depressed nasal bridge, Absent nipple, Broad nasal tip, Upper limb peromel...	ORPHA:1299
Distal Deletion 3P	Anteverted nares, Micrognathia, Brachycephaly, Postaxial hand polydactyly, Clinodactyly of the 5t...	ORPHA:1620
Developmental And Epileptic Encephalopathy 80	Wide nasal bridge, Short distal phalanx of finger, Small nail, Micrognathia, Talipes equinovarus,...	OMIM:618580
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Slender long bone, Upper limb undergrowth, Micrognathi...	ORPHA:369837
Bifid Nose With Or Without Anorectal And Renal Anomalies	Bifid nose, Bulbous nose, Brachycephaly, Thick eyebrow	OMIM:608980
Marbach-Schaaf Neurodevelopmental Syndrome	Depressed nasal bridge, Plagiocephaly, Broad nasal tip, Brachydactyly, Tapered finger	OMIM:619680
Gapo Syndrome	Depressed nasal bridge, Alopecia, Sparse eyebrow, Plagiocephaly, Breast hypoplasia, Anteverted na...	OMIM:230740
Alg2-Cdg	Wide nasal bridge	ORPHA:79326
Acrocallosal Syndrome	Wide nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Microretrognath...	OMIM:200990
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Highly arched eyebrow, Wide nasal bridge, Depressed nasal bridge, S...	OMIM:618454
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Wide nasal bridge, Narrow chest, Hypertrichosis, Micrognathia, Postaxial hand polydactyly, Flat o...	OMIM:235255
Hennekam-Beemer Syndrome	Wide nasal bridge, Irregular hyperpigmentation, Camptodactyly of finger, Generalized hyperpigment...	ORPHA:2135
Prune1-Related Neurological Syndrome	Bilateral talipes equinovarus, Micrognathia, Plagiocephaly	ORPHA:544469
7Q11.23 Microduplication Syndrome	Broad nasal tip, Horizontal eyebrow, Sparse anterior scalp hair, Long eyelashes, Micrognathia, Ab...	ORPHA:96121
Congenital Disorder Of Glycosylation, Type 2V	Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, Low posterior hairline, Talipes equin...	OMIM:619493
Zimmermann-Laband Syndrome 1	Wide nasal bridge, Highly arched eyebrow, Short distal phalanx of finger, Broad nasal tip, Small ...	OMIM:135500
Developmental And Epileptic Encephalopathy 65	Highly arched eyebrow, Plagiocephaly	OMIM:618008
8P Inverted Duplication/Deletion Syndrome	Wide nasal bridge, Frontal balding, Anteverted nares, Micrognathia, Long fingers, Clinodactyly of...	ORPHA:96092
Kleefstra Syndrome	Highly arched eyebrow, Supernumerary nipple, Anteverted nares, Talipes equinovarus, Brachycephaly...	ORPHA:261494
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Micrognathia, Abnormal femur morphology, Abnormal fibula morphology, Hip dysplasia	ORPHA:2063
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Broad nasal tip, Microretrognathia, Prominent nasal bridge, Brachydactyly, Cranios...	ORPHA:457193
X-Linked Intellectual Disability, Najm Type	Wide nasal bridge, Micrognathia	ORPHA:163937
Renpenning Syndrome 1	Wide nasal bridge, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Spars...	OMIM:309500
Snijders Blok-Campeau Syndrome	Wide nasal bridge, Prominent nose, Frontal bossing	OMIM:618205
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Orofaciodigital Syndrome I	Wide nasal bridge, Alopecia, Dry hair, Microretrognathia, Clinodactyly, Radial deviation of finge...	OMIM:311200
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Fg Syndrome Type 1	Choanal atresia, Plagiocephaly, Clinodactyly of the 2nd finger, Finger syndactyly, Abnormal stern...	ORPHA:93932
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Bulbous nose, Micrognathia	ORPHA:1237
Pontocerebellar Hypoplasia, Type 7	Wide nasal bridge, Pectus carinatum, Hypopigmentation of the skin, Broad nasal tip, Micrognathia,...	OMIM:614969
Glycosylphosphatidylinositol Biosynthesis Defect 11	Wide nasal bridge	OMIM:616025
Orofaciodigital Syndrome Type 2	Wide nasal bridge, Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication...	ORPHA:2751
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Wide nasal bridge, Posterior plagiocephaly, Broad nasal tip, Sandal gap, Few ca...	OMIM:620330
Tbck-Related Intellectual Disability Syndrome	Wide nasal bridge, Clinodactyly, Bulbous nose, 11 pairs of ribs, Thick eyebrow, Hirsutism, 2-3 to...	ORPHA:488632
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Wide nasal bridge, Overlapping fingers	OMIM:615966
Genitopatellar Syndrome	Wide nasal bridge, Congenital hip dislocation, Hearing impairment, Inferior pubic ramus hypoplasi...	OMIM:606170
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Plagiocephaly, Frontal bossing	OMIM:617296
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Hirsutism, Limb undergrowth, Hip dislocation, Short nose	OMIM:618005
Andersen-Tawil Syndrome	Wide nasal bridge, Small hand, Bulbous nose, Scaphocephaly, Micrognathia, 2-3 toe syndactyly, Cli...	ORPHA:37553
Neurofibromatosis Type 1	Hearing impairment, Hypopigmented skin patches, Genu valgum, Genu varum, Osteopenia, Abnormal hai...	ORPHA:636
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Galloway-Mowat Syndrome 4	Hypermelanotic macule, Plagiocephaly, Tapered finger	OMIM:617730
Au-Kline Syndrome	Bifid nasal tip, Plagiocephaly, Sparse lateral eyebrow, Underdeveloped nasal alae, Supernumerary ...	OMIM:616580
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Wide nasal bridge, Broad thumb, Microretrognathia, Broad hallux, Hypertrichosis...	ORPHA:508498
Neu-Laxova Syndrome 1	Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic...	OMIM:256520
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin, Cranial asymmetry, Abnormal finger morphology, Abnormal t...	OMIM:163200
Faciocardiorenal Syndrome	Wide nasal bridge, Plagiocephaly, Underdeveloped nasal alae	ORPHA:1973
Frontofacionasal Dysplasia	Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defect of the nose, Absent inn...	OMIM:229400
1P36 Deletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Horizontal eyebrow, Ocular albi...	ORPHA:1606
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Cog5-Cdg	Wide nasal bridge, Abnormality of the frontal hairline, Finger clinodactyly, Camptodactyly of fin...	ORPHA:263487
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Low posterior hairline, Hypoplastic vertebral bodies, Brachydactyly, Postaxial han...	ORPHA:2916
Hypomagnesemia 3, Renal	Genu valgum, Rickets, Short metacarpal, Bowing of the legs	OMIM:248250
Barber-Say Syndrome	Wide nasal bridge, Breast aplasia, Bulbous nose, Anteverted nares, Sparse or absent eyelashes, Ge...	ORPHA:1231
Mullegama-Klein-Martinez Syndrome	Wide nasal bridge, Depressed nasal bridge, High anterior hairline, Bulbous nose, Prominent nose, ...	OMIM:301022
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Prominent fingertip pads, Bulbous nos...	ORPHA:466950
Intellectual Developmental Disorder, Autosomal Dominant 73	Toe clinodactyly, Highly arched eyebrow, Wide nasal bridge, Narrow chest, Underdeveloped nasal al...	OMIM:620450
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Wide nasal bridge, Thin ribs, Coronal craniosynostosis, Coarse hair, Brachyturricephaly, Underdev...	ORPHA:83617
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Wide nasal bridge, Choanal atresia, Sparse eyebrow, Absent nipple, Depressed nasal bridge, Small ...	OMIM:620186
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Plagiocephaly, Supernumerary nipple, Contracture of the proximal inte...	ORPHA:457279
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Sialuria	2-3 toe syndactyly, Long hallux, Wide nasal bridge	ORPHA:3166
Jacobsen Syndrome	Toe clinodactyly, Wide nasal bridge, Toe syndactyly, Finger syndactyly, Short toe, Broad columell...	ORPHA:2308
Microphthalmia, Syndromic 1	Low-set ears, Joint contracture of the hand, Narrow chest, Prominent fingertip pads, Clinodactyly...	OMIM:309800
7Q31 Microdeletion Syndrome	Plagiocephaly, Clinodactyly of the 2nd finger, Prominent fingertip pads, Postnatal growth retarda...	ORPHA:251061
Hereditary Orotic Aciduria	Wide nasal bridge, Hip dysplasia, Abnormal toenail morphology	ORPHA:30
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Pectus carinatum, 2-3 toe syndactyly, Brachycephaly, Metatarsus adductus, C...	OMIM:611962
Micro Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Abnormality of retinal pigmentation, Generaliz...	ORPHA:2510
Obesity And Hypopigmentation	Red hair	OMIM:620195
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Polydactyly, Camptodactyly, Clinodactyly of th...	OMIM:247200
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Talipes equinovarus, Plagiocephaly	OMIM:617481
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Horizontal eyebrow, Brachyturricephaly, Equinus calcaneus, 2-3 toe syndactyly, Prominent nasal ti...	ORPHA:522077
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Short neck, Pre...	OMIM:113620
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Anteverted nares, Frontal bossing	ORPHA:438216
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Limitation of moveme...	ORPHA:98794
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Broad nasal tip, Hypoplastic fifth fingernail, Shortening of all distal phalan...	OMIM:614207
Band Heterotopia	Plagiocephaly	OMIM:600348
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Wide nasal bridge, Abnormal hair morphology, Dystrophic fingernails, Craniosynostosis, Paronychia	ORPHA:2314
Noonan Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Pectus carinatum, Prominent fingertip ...	OMIM:605275
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flared nostrils, Highly arched eyebrow, Sparse eyebrow, Wide nasal bridge, Clinodactyly, Abnormal...	ORPHA:487796
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Micrognathia, Short nose, Hip subluxati...	OMIM:613457
X-Linked Intellectual Disability Due To Gria3 Mutations	Brachycephaly	ORPHA:364028
Neurofibromatosis, Type I	Inguinal freckling, Tibial pseudarthrosis, Genu valgum, Multiple cafe-au-lait spots, Spina bifida...	OMIM:162200
Stromme Syndrome	Wide nasal bridge, Preaxial polydactyly, Short columella, Prominent nasal bridge, Micrognathia, S...	OMIM:243605
Treacher-Collins Syndrome	Wide nasal bridge, Choanal atresia, Abnormal hair morphology, Micrognathia, Low anterior hairline...	ORPHA:861
Neonatal Marfan Syndrome	Wide nasal bridge, Pectus carinatum, Micrognathia, Arachnodactyly, Long toe, Adducted thumb, Long...	ORPHA:284979
White-Sutton Syndrome	Depressed nasal bridge, Vitiligo, Broad nasal tip, Brachycephaly	ORPHA:468678
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Flat occiput, Depressed nasal tip, Midline defect of...	OMIM:610828
Maternal Phenylketonuria	Wide nasal bridge, Clinodactyly, Anteverted nares, Micrognathia, Bifid distal phalanx of the thum...	ORPHA:2209
Hermansky-Pudlak Syndrome 2	Wide nasal bridge, Fair hair, Ocular albinism, Acetabular dysplasia, Aberrant melanosome maturati...	OMIM:608233
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Hartsfield Syndrome	Low-set ears, Hypoplasia of the frontal bone, Ectrodactyly, Hypotelorism, Hypertelorism, Craniosy...	OMIM:615465
Cystinosis, Nephropathic	Male hypogonadism, Rachitic rosary, Skeletal muscle atrophy, Hypopigmentation of the skin, Pigmen...	OMIM:219800
Ataxia-Telangiectasia	Multiple cafe-au-lait spots, Hypopigmentation of hair, Skeletal muscle atrophy, Premature graying...	ORPHA:100
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Hearing impairment, Tibial torsion, Talipes equinovarus, Long toe, Pes planus, Po...	OMIM:613355
Cerebrofacioarticular Syndrome	Wide nasal bridge, Caudal appendage, Bilateral choanal atresia/stenosis, Micrognathia, Talipes eq...	ORPHA:314679
Fraser Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Small nail, Underdeveloped nasal alae, Aplasia/Hypopla...	OMIM:219000
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Wide nasal bridge, Hypopigmented skin patches, Underdeveloped nasal alae, Premature graying of ha...	ORPHA:163746
Spastic Paraplegia 51, Autosomal Recessive	Wide nasal bridge, Talipes equinovarus, Long nose, Bulbous nose	OMIM:613744
Fucosidosis	Brachycephaly, Abnormality of the nail	ORPHA:349
Witteveen-Kolk Syndrome	Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Arachnodactyly, Short...	OMIM:613406
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Toe syndactyly, Sparse eyebrow, Hypoplastic sacrum, Ectrodactyly, Hearing impa...	OMIM:604292
Peters Plus Syndrome	Depressed nasal bridge, Rhizomelia, Toe syndactyly, Short toe, Micromelia, Postnatal growth retar...	ORPHA:709
Rabin-Pappas Syndrome	Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Micrognathia, Low hanging columella	OMIM:620155
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Micrognathia, Hip contracture, Curly hair, Short nose, Hyperextensi...	OMIM:619503
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Wide nasal bridge	OMIM:611087
Congenital Disorder Of Glycosylation, Type Ii	Wide nasal bridge	OMIM:607906
Bohring-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypertrichosis, Trigonocephaly, Anteverted nares, Micr...	ORPHA:97297
Opitz Gbbb Syndrome	Wide nasal bridge, Anteverted nares, Abnormal nasopharynx morphology, Frontal bossing, Widow's pe...	OMIM:300000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Wide nasal bridge, Microretrognathia, Anteverted nares, Neonatal death, Flat occiput	OMIM:614052
Hennekam Syndrome	Wide nasal bridge, Depressed nasal bridge, Narrow chest, Finger syndactyly, Camptodactyly of fing...	ORPHA:2136
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Plagiocephaly, Postnatal growth retardation, Genu valgum, Micrognathia, Thoracic scol...	ORPHA:300570
Dubowitz Syndrome	Wide nasal bridge, Broad nasal tip, Sparse lateral eyebrow, Postnatal growth retardation, Promine...	OMIM:223370
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Wide nasal bridge, Long eyelashes, Prominent nasolabial fold, Short long bone	OMIM:301110
Helsmoortel-Van Der Aa Syndrome	Wide nasal bridge, High anterior hairline, Small hand, Broad nasal tip, Prominent fingertip pads,...	OMIM:615873
X-Linked Intellectual Disability, Armfield Type	Depressed nasal bridge, Small hand, Micrognathia, Brachycephaly, Short foot	ORPHA:85276
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Single transverse palmar crease, Osteopetrosis, Hypertelorism, Hypo...	OMIM:618541
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Plagiocephaly, Broad hallux, Anteverted nares, Postaxial polydactyly, Hip dy...	ORPHA:457284
Skin Creases, Congenital Symmetric Circumferential, 2	Wide nasal bridge, Depressed nasal bridge, Micrognathia, Low anterior hairline, 2-3 toe syndactyl...	OMIM:616734
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Sandal gap, Hypoplastic iliac wing, Brachycephaly, Brach...	OMIM:190685
Houge-Janssens Syndrome 3	Broad nasal tip, Frontal bossing, Plagiocephaly	OMIM:618354
Fryns Syndrome	Wide nasal bridge, Short distal phalanx of finger, Narrow chest, Hypoplastic fingernail, Antevert...	ORPHA:2059
Ogden Syndrome	Flared nostrils, Postnatal growth retardation, Micrognathia, Short nose, Sparse eyebrow, Long eye...	OMIM:300855
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Sparse eyebrow, Pectus carinatum, Plagiocephaly, Fractures of the lon...	ORPHA:496641
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Wide nasal bridge, Clinodactyly of the 2nd finger, Thick eyebrow, Clinodactyly of the 4th finger,...	ORPHA:73223
Developmental And Epileptic Encephalopathy 1	Plagiocephaly	OMIM:308350
Lymphangiectasia, Pulmonary, Congenital	Wide nasal bridge, Depressed nasal bridge, Mild postnatal growth retardation, Pectus excavatum	OMIM:265300
Hermansky-Pudlak Syndrome 1	Epistaxis, Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-expo...	OMIM:203300
Feingold Syndrome 1	Wide nasal bridge, Short thumb, Short toe, Depressed nasal tip, Anteverted nares, Micrognathia, P...	OMIM:164280
Peroxisome Biogenesis Disorder 1B	Wide nasal bridge, Epiphyseal stippling, Convex nasal ridge	OMIM:601539
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Short columella, Arachnodactyly, Talipes equinovarus, Brachycephaly, Adducted ...	OMIM:601776
B4Galt1-Cdg	Wide nasal bridge	ORPHA:79332
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Short hallux, Genu varum, Broad nasal tip,...	OMIM:616268
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly, Tapered finger	OMIM:301072
Zttk Syndrome	Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Small hand, Cervical ribs, Rib fusion,...	OMIM:617140
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Sparse eyebrow, Plagiocephaly, Micrognathia, Low hanging columella, Frontal bossing, Synophrys	OMIM:617193
Congenital Disorder Of Deglycosylation 1	Brachycephaly, Small hand, Short foot, Anteverted nares	OMIM:615273
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Wide nasal bridge, Plagiocephaly, Underdeveloped nasal alae, Hip dysplasia, Craniosynostosis	ORPHA:453499
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Wide nasal bridge, Micrognathia	ORPHA:85321
Leukocyte Adhesion Deficiency Type Ii	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Overlapping toe, Long eyelashes...	ORPHA:99843
Axenfeld-Rieger Syndrome	Wide nasal bridge, Depressed nasal bridge	ORPHA:782
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Brachydactyly, Short pa...	ORPHA:466943
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Short foot, Thick eyebrow, Plagiocephaly, Concave nasal ridge	OMIM:615471
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Flat occiput	ORPHA:411511
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Broad nasal tip, Plagiocephaly, Anteverted nares, Micrognathia, Talipes e...	OMIM:254940
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Wide nasal bridge, Microretrognathia, Camptodactyly of finger, Abnormal occipital bone morphology...	ORPHA:468631
Joubert Syndrome 1	Highly arched eyebrow, Postaxial foot polydactyly, Plagiocephaly, Clinodactyly, Anteverted nares,...	OMIM:213300
Okamoto Syndrome	Wide nasal bridge, Depressed nasal bridge, Facial hypertrichosis, Underdeveloped nasal alae, Hype...	ORPHA:2729
Viss Syndrome	Depressed nasal bridge, Alopecia, Microretrognathia, Pectus carinatum, Genu valgum, Prominent nas...	OMIM:619472
Keutel Syndrome	Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Short thumb, Epiphysea...	OMIM:245150
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Dolichocephaly, Frontal bossing, Tapered finger	OMIM:619480
Aicardi Syndrome	Small hand, Plagiocephaly, Sparse lateral eyebrow, Abnormality of retinal pigmentation, Missing r...	ORPHA:50
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Wide nasal bridge, Highly arched eyebrow, Microretrognathia, Bulbous nose, Long eyelashes, Anteve...	OMIM:620371
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Broad nasal tip, Plagiocephaly, Anteverted nares, Micrognathia, Pectus excavatum, Wide anterior f...	OMIM:618548
Blepharophimosis, Ptosis, And Epicanthus Inversus	Wide nasal bridge, Highly arched eyebrow, Sparse pubic hair, Depressed nasal bridge	OMIM:110100
Fraser Syndrome	Wide nasal bridge, Depressed nasal bridge, Toe syndactyly, Finger syndactyly, Underdeveloped nasa...	ORPHA:2052
Syndromic Diarrhea	Wide nasal bridge, Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle h...	ORPHA:84064
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Toe syndactyly, Plagiocephaly, Finger syndactyly, Thumb contracture,...	OMIM:607932
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Wide nasal bridge, Lambdoidal craniosynostosis, Broad nasal tip, Underdeveloped nasal alae, Super...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Wide nasal bridge, Lambdoidal craniosynostosis, Broad nasal tip, Underdeveloped nasal alae, Super...	ORPHA:352665
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Wide nasal bridge, Underdeveloped nasal alae, Prominent nose, Micrognathia, Synophrys	ORPHA:90024
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Ulnar deviation of finger, Plagiocephaly, Camptodactyly of finger, Talipes equinovarus, Dolichoce...	ORPHA:1101
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Highly arched eyebrow, Anteverted nares, Micrognathia, Short nose	ORPHA:2282
Oculoectodermal Syndrome	Hyperpigmented streaks, Depressed nasal bridge, Wide nasal bridge, Supernumerary nipple, Parietal...	OMIM:600268
Congenital Myopathy 13	Bilateral talipes equinovarus, Brachycephaly, Micrognathia	OMIM:255995
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a...	ORPHA:3214
Osteopetrosis With Renal Tubular Acidosis	Plagiocephaly, Micrognathia, Thickened calvaria, Brachycephaly, Prominent floating ribs, Pectus e...	ORPHA:2785
Monosomy 22Q13.3	Wide nasal bridge, Bulbous nose, Long eyelashes, Thick eyebrow, Hypoplastic toenails, Dolichoceph...	ORPHA:48652
Diamond-Blackfan Anemia	Wide nasal bridge, Depressed nasal bridge, Absent thumb, Short thumb, Micrognathia, Partial dupli...	ORPHA:124
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Small hand, Plagiocephaly, Finger clinodactyly, Anteverted nares, Micrognathia...	OMIM:620455
Vici Syndrome	Low-set ears, Hypopigmentation of the skin, Ocular albinism, Micrognathia, Myopathy, Sensorineura...	OMIM:242840
Kabuki Syndrome 1	Short 5th finger, Highly arched eyebrow, Sparse eyebrow, Congenital hip dislocation, Prominent ey...	OMIM:147920
Smith-Lemli-Opitz Syndrome	2-3 toe cutaneous syndactyly, Wide nasal bridge, Depressed nasal bridge, Postaxial foot polydacty...	OMIM:270400
Developmental And Epileptic Encephalopathy 84	Plagiocephaly, Synophrys	OMIM:618792
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Plagiocephaly, Clinodactyly, Micrognathia, Low anterior hairline, Hallux v...	ORPHA:75857
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Faundes-Banka Syndrome	Plagiocephaly, Underdeveloped nasal alae, Bulbous nose, Micrognathia, Hypoplastic toenails, Broad...	OMIM:619376
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Wide nasal bridge, Hypopigmentation of the skin, Plagiocephaly, Bulbous nose, Melanocytic nevus, ...	OMIM:619475
22Q11.2 Deletion Syndrome	Wide nasal bridge, Choanal atresia, Hypopigmented skin patches, Multiple suture craniosynostosis,...	ORPHA:567
Cutis Laxa, Autosomal Recessive, Type Ic	Wide nasal bridge, Dolichocephaly, Micrognathia, Sandal gap	OMIM:613177
Cutis Laxa, Autosomal Recessive, Type Iid	Wide nasal bridge, Narrow naris, Bulbous nose, Talipes equinovarus, Hip dysplasia, Camptodactyly,...	OMIM:617403
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Spontaneous, recurrent epistaxis, Brachycephaly, Hallux valgus, Pectus ex...	ORPHA:2072
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Wide nasal bridge, Slender finger, Depressed nasal bridge, Clinodactyly, Radial deviation of fing...	OMIM:309580
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short 5th finger, Wide nasal bridge, Broad nasal tip, Short thumb, Short finger, Bulbous nose, An...	OMIM:619522
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Supernumerary nipple	OMIM:616579
Martin-Probst Syndrome	Wide nasal bridge, Hypoplastic nipples, Micrognathia	OMIM:300519
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Wide nasal bridge, Pectus carinatum, Recurrent upper respiratory tract infections, Broad thumb, C...	OMIM:612541
Mucopolysaccharidosis Type 2, Severe Form	Wide nasal bridge, Recurrent upper respiratory tract infections, Camptodactyly of finger, Abnorma...	ORPHA:217085
Kosaki Overgrowth Syndrome	Wide nasal bridge, Depressed nasal bridge	OMIM:616592
Mucopolysaccharidosis Type 2, Attenuated Form	Wide nasal bridge, Recurrent upper respiratory tract infections, Camptodactyly of finger, Abnorma...	ORPHA:217093
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nasal bridge, Abnormal hair morphology, Leukonychia, Anteverted nares, Abnormality of retina...	ORPHA:2526
Opitz Gbbb Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Craniosynostosis, Widow's peak	ORPHA:2745
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge	OMIM:601499
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Absent thumb, Slender long bone, Cervi...	ORPHA:500150
Microphthalmia, Syndromic 9	Wide nasal bridge, Micrognathia, Neonatal death	OMIM:601186
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Spontaneo...	OMIM:214500
Duplication Of The Pituitary Gland	Brachyturricephaly, Thoracic scoliosis	ORPHA:314621
Aspartylglucosaminuria	Depressed nasal bridge, Anteverted nares, Thickened calvaria, Brachycephaly, Hypoplastic frontal ...	OMIM:208400
Shprintzen Omphalocele Syndrome	Flared nostrils, Narrow chest, Short columella, Wide nasal bridge	OMIM:182210
Wars2-Related Combined Oxidative Phosphorylation Defect	Wide nasal bridge	ORPHA:572798
Microphthalmia With Linear Skin Defects Syndrome	Wide nasal bridge, Hypopigmented skin patches, Micrognathia, Abnormality of retinal pigmentation,...	ORPHA:2556
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Narrow chest, Plagiocephaly, Hip contracture, Anonychia, Narrow iliac wing, Pectus excavatum, Syn...	ORPHA:3042
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Brachycephaly, Micrognathia, Posterior rib fusion, Neonatal death	OMIM:265380
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Plagiocephaly, Synostosis involving the 1st metacarpal, Supernumerary nipple, Narrow nasal bridge...	ORPHA:466791
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Epistaxis, Hypopigmentation of the skin, Ocular albinism, Partial albinism...	ORPHA:79430
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Wide nasal bridge, Depressed nasal tip	OMIM:619306
Perlman Syndrome	Wide nasal bridge, Depressed nasal bridge, Micrognathia	OMIM:267000
Common Variable Immunodeficiency	Brachycephaly	ORPHA:1572
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Wide nasal bridge, Depressed nasal bridge, Microretrognathia	OMIM:619418
Mucopolysaccharidosis Type 2	Wide nasal bridge, Recurrent upper respiratory tract infections, Abnormality of retinal pigmentat...	ORPHA:580
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Synophrys	ORPHA:447997
Congenital Fibrosis Of Extraocular Muscles	Finger aplasia, Plagiocephaly	ORPHA:45358
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Wide nasal bridge, High anterior hairline	OMIM:619714
Mowat-Wilson Syndrome	Wide nasal bridge, Pectus carinatum, Horizontal eyebrow, Broad hallux, Broad columella, Depressed...	ORPHA:2152
Williams Syndrome	Wide nasal bridge, Abnormal pelvic girdle bone morphology, Abnormal fingernail morphology, Genu v...	ORPHA:904
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Wide nasal bridge, Pectus carinatum, Broad hallux, Long hallux, Depressed nasal tip, Genu valgum,...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Long hallux, Genu valgum, Arachnodactyly, Syndactyly, Pectus carinatum, Depressed nasal tip, Ulna...	ORPHA:261552
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Wide nasal bridge, Highly arched eyebrow, Anteverted nares, Micrognathia, Hirsutism, Low anterior...	OMIM:220111
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi...	ORPHA:167
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Abnormal cartilage morphology, Abnormal eyelash morphology, ...	ORPHA:2396
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Wide nasal bridge, Anteverted nares	OMIM:617641
Mowat-Wilson Syndrome	Wide nasal bridge, Pectus carinatum, Supernumerary nipple, Broad eyebrow, Prominent nasal tip, Pe...	OMIM:235730
Cardiac-Urogenital Syndrome	2-3 toe syndactyly, Wide nasal bridge	OMIM:618280
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Wide nasal bridge, Highly arched eyebrow, Thick eyebrow	ORPHA:572333
Pontocerebellar Hypoplasia Type 7	Wide nasal bridge, Depressed nasal bridge, Micrognathia	ORPHA:284339
Congenital Disorder Of Glycosylation, Type Iim	Wide nasal bridge, Thick eyebrow	OMIM:300896
Aicardi-Goutières Syndrome	Plagiocephaly, Convex nasal ridge	ORPHA:51
Liver Disease, Severe Congenital	Depressed nasal bridge, Dry hair, Plagiocephaly, Micrognathia, Nail dystrophy, Narrow nasal ridge	OMIM:619991
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge	OMIM:180500

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 Tbx15

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 Tbx15.

No publications found that use IMPC mice or data for Tbx15.

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MGI Allele	Allele Type	Produced
Tbx15^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Tbx15^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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