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Gene: Tbx15 MGI:1277234

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Short neck, Hy... ORPHA:93333
Cousin Syndrome
Short neck, Micrognathia, Prominent protruding coccyx, Low anterior hairline, Deeply set eye, Hyp... OMIM:260660

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Fibrochondrogenesis 1
Short neck, Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5... OMIM:228520
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Rhizomelia, Mi... OMIM:602471
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Short neck, Hy... ORPHA:93333
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epip... OMIM:250460
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Fibrochondrogenesis
Hypoplastic fingernail, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hy... ORPHA:2021
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... OMIM:132400
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Talipes, Hearing impairment, Abnorm... ORPHA:1856
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin... ORPHA:93351
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... OMIM:108720
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... ORPHA:1570
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... OMIM:251450
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Acrodysostosis
Micromelia, Short metatarsal, Abnormal form of the vertebral bodies, Abnormality of the nail, Hyp... ORPHA:950
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Thanatophoric Dysplasia, Type Ii
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia... OMIM:187601
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Highly arched eyebrow, Micrognathia, Hypertelorism, Wid... OMIM:619135
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Skeletal muscle atr... OMIM:616716
Isotretinoin Syndrome
Sacral dimple, Micrognathia, Microtia, Biparietal narrowing, Spina bifida occulta ORPHA:2305
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... ORPHA:3104
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Abnormal form of the verte... ORPHA:2831
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... OMIM:200600
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Cryptorchidism, Limited elbow extension, Short metatarsal... OMIM:180870
Cousin Syndrome
Short neck, Micrognathia, Prominent protruding coccyx, Low anterior hairline, Deeply set eye, Hyp... OMIM:260660
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Micrognathia, Vertebral segmentation d... ORPHA:1323
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Lon... OMIM:102370
Acromicric Dysplasia
Abnormal eyebrow morphology, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Small han... ORPHA:969
Acromesomelic Dysplasia 4
Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, ... OMIM:619636
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... OMIM:190351
Omodysplasia 2
Short humerus, Dyspareunia, Posteriorly rotated ears, Micrognathia, Hypertelorism, Cryptorchidism... OMIM:164745
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, Brachycephaly, Coxa vara, Narrow chest, Hypoplast... ORPHA:1452
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Abnormal fingernail morphology, Sh... ORPHA:93384
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Turricephaly, Brachydactyly, Abnormal denta... ORPHA:1005
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... OMIM:618150
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert... ORPHA:958
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Hypertelorism, ... ORPHA:79107
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, W... ORPHA:2779
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Brachyce... ORPHA:1514
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg... ORPHA:440354
Osteoglophonic Dysplasia
Osteopenia, Short neck, Hypoplastic toenails, Short metatarsal, Short palm, Shallow orbits, Short... OMIM:166250
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
Paternal Uniparental Disomy Of Chromosome X
Low-set, posteriorly rotated ears, Short metacarpal, Short neck, Low posterior hairline, Shield c... ORPHA:261524
Smith-Mccort Dysplasia 2
Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho... OMIM:615222
Anauxetic Dysplasia 3
Femoral bowing, Narrow chest, Trident hand, Short metacarpal, Thoracolumbar kyphoscoliosis, Wide ... OMIM:618853
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... ORPHA:1040
Femoral-Facial Syndrome
Short femur, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Abnormal rib morphology, R... ORPHA:1988
Cenani-Lenz Syndrome
Micromelia, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Absent fing... ORPHA:3258
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Pde4D Haploinsufficiency Syndrome
Micrognathia, Short metatarsal, Hypotelorism, Irregular vertebral endplates, Bilateral coxa valga... ORPHA:439822
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... OMIM:614078
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Cryptorchidism, Short metatarsal, Spinal canal stenosis, Advanced ossification ... OMIM:614613
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Microcephaly, Dental malocclusion, Pectus carinatum, Abnormal calvaria mor... ORPHA:3079
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic ... ORPHA:1512
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Short metatarsal, Pectus carinatum, Protruding ear, Con... OMIM:190350
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Lateral clavicle h... OMIM:171480
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... ORPHA:2616
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Hip dislocation, Th... OMIM:618395
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... ORPHA:1837
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen... OMIM:142900
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Abnormal fingernail morphology, Micrognathia, Preaxial hand polydactyly, Radial... ORPHA:1278
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of... ORPHA:77258
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... OMIM:600920
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Coarse hair, Narrow chest,... OMIM:309350
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... OMIM:114290
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... OMIM:184260
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypertelorism, ... OMIM:212780
Campomelic Dysplasia
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Conductive hearing impairment, Abnormality of ... ORPHA:95699
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il... OMIM:169550
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, Bifid distal phalanx of th... ORPHA:370010
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Pes planus, Short metacarpal, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, ... OMIM:612350
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Marinesco-Sjogren Syndrome
Pes planus, Short metacarpal, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Coxa valga... OMIM:248800
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Dolichoc... ORPHA:3144
Exostoses, Multiple, Type Ii
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133700
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... ORPHA:2019
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ... OMIM:616723
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... OMIM:608940
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hearing impairment, Hypoplastic ilia, Abnormal... ORPHA:1860
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... OMIM:615170
Dysspondyloenchondromatosis
Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m... ORPHA:85198
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum... ORPHA:3268
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... OMIM:249700
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia OMIM:602196
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Wide nasal bridge, Irre... OMIM:222765
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the uln... OMIM:200980
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Abnormal pinna morphology, Single tr... OMIM:123450
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finge... ORPHA:1520
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Barrel... ORPHA:94068
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Beaded ribs, Short neck, Micrognathia, Multiple prenatal fractures, Flexion contractu... OMIM:616897
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... OMIM:147750
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Hypert... ORPHA:2256
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho... ORPHA:56304
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Hypertelorism, Highly arched e... ORPHA:263463
Cleidocranial Dysplasia 1
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Narrow c... OMIM:119600
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Craniosynostosis 1
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... OMIM:123100
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo... OMIM:617102
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Micrognathia, Metaphyseal widening, Death in childhood, Sparse hair, Hy... OMIM:252500
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... OMIM:611263
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short nail, Short neck, Hypertelorism, Kyphosis, Cone-shaped... ORPHA:420794
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Coronal cleft vertebrae, Short long bone, Epiphyseal stippling, Short 3rd metacarpal,... OMIM:118651
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... ORPHA:968
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Short metatarsal, Deeply set eye, Sparse hair, Short metacarpal, Rhizomelia, Hypertel... OMIM:614813
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypertelorism, Micrognathia, Synophrys, Microtia, Low-set ears, Clinodact... ORPHA:357175
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Ti... ORPHA:96334
Toluene Embryopathy
Tapered finger, Micrognathia, Microcephaly, Protruding ear, Hypoplasia of the zygomatic bone, Bip... ORPHA:1920
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... OMIM:611717
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... ORPHA:2249
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Abnormal morphology of ulna, Short neck, Decreased fertility, Low posteri... ORPHA:2233
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Short metacarpal,... OMIM:211350
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Van Maldergem Syndrome 1
Osteopenia, Short fourth metatarsal, Micrognathia, Cutaneous finger syndactyly, Narrow chest, Con... OMIM:601390
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... OMIM:614091
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Sparse hair, Broad phalanx, Short phalanx of finger, Broad me... OMIM:618724
Tetraploidy
Micrognathia, Microcephaly, Radial club hand, Biparietal narrowing, Hypoplasia of the ear cartilage ORPHA:3305
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus, Absent fingernail, Limit... OMIM:276821
Van Maldergem Syndrome 2
Osteopenia, Short fourth metatarsal, Micrognathia, Cutaneous syndactyly of toes, Cutaneous finger... OMIM:615546
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Aplasia/hypoplas... ORPHA:2141
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Hypoplasia of the maxilla... ORPHA:228396
Dystonia-Deafness Syndrome 1
Sensorineural hearing impairment, Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis OMIM:607371
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Hypertelorism, Micrognathia, Synophrys, Microtia, Low-set ears, Clinodact... OMIM:615162
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Hypertelorism, Cryptorchidism, Patell... ORPHA:93328
Otospondylomegaepiphyseal Dysplasia
Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... ORPHA:1427
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Pectus carinatum, K... OMIM:615777
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... OMIM:249600
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... ORPHA:2633
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Hyp... OMIM:269860
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Frontal bossing, Micrognathia, Synophrys, Wide nasal bridge, Adducted thumb ORPHA:3207
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Short neck, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of t... OMIM:271665
Potocki-Shaffer Syndrome
Brachydactyly, 2-5 finger cutaneous syndactyly, Turricephaly, Underdeveloped nasal alae, Parietal... OMIM:601224
Van Bogaert-Hozay Syndrome
Abnormal pinna morphology, Micrognathia, Abnormal hair morphology, Osteolytic defects of the phal... OMIM:277150
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... OMIM:304120
Zimmermann-Laband Syndrome 3
Thick hair, Broad nasal tip, Aplasia of the distal phalanx of the 5th toe, Synophrys, Low anterio... OMIM:618658
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Cryptorchidis... ORPHA:3121
Pseudopseudohypoparathyroidism
Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Brachydactyly OMIM:612463
Roifman-Chitayat Syndrome
Osteopenia, Short metacarpal, Hypertelorism, Short neck, Short metatarsal, Wide nasal bridge, Con... OMIM:613328
Adams-Oliver Syndrome 3
Hypoplastic fifth fingernail, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short... OMIM:614814
Craniodiaphyseal Dysplasia
Frontal bossing, Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide... ORPHA:1513
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular... OMIM:143095
Cohen Syndrome
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar ... OMIM:216550
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Short metacarpal, Delayed epiphyseal ossification, Limited elbow extension,... OMIM:600969
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Short third metatarsal, Hand muscle atrophy, Thoracic scoliosis, Distal lower limb amyotrophy, Ca... ORPHA:324442
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Hypertelorism, Abnormal ossification involving the femoral... ORPHA:1190
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, Hypoplastic toenails, 2-3 toe cutaneous syndactyly... ORPHA:96148
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic vertebral bodies, Short palm, Short ... OMIM:101800
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper limb muscle hypoplasia, Sp... OMIM:607323
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Hypertelorism, Short metatarsal, 2-3 toe syndactyly, Sympha... ORPHA:1540
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear... OMIM:311300
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Short thumb, Cryptorchidism, Abnormal antihelix morphology, Hypoplasia of the a... ORPHA:2489
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... OMIM:277590
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine... OMIM:215140
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... ORPHA:2878
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Hyperte... OMIM:605282
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... OMIM:227270
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... ORPHA:2491
Lamb-Shaffer Syndrome
Frontal bossing, Depressed nasal bridge, Overlapping toe, Long fingers, Bulbous nose, Wide nasal ... OMIM:616803
Zechi-Ceide Syndrome
Sandal gap, Thick hair, Short metatarsal, Abnormal earlobe morphology, Wide nasal bridge, Microti... ORPHA:217017
Bartsocas-Papas Syndrome 1
Short neck, Micrognathia, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, ... OMIM:263650
Satoyoshi Syndrome
Pes planus, Short metacarpal, Alopecia, Short metatarsal, Amenorrhea, Osteolytic defects of the p... OMIM:600705
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Midface retrusion, Brachycephaly, Brachydactyly ORPHA:35099
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Sensorineural hearing impairment, Abnormal form of ... ORPHA:1458
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Broad nasal tip, Tapered finger, Wide nasal bridge, Thin eyebrow, Clinodactyly of the 5th finger,... OMIM:618147
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormalit... OMIM:609324
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Osteopathia striata, Low anterior hairline, Pectus carinatum, F... OMIM:212720
Cornelia De Lange Syndrome 2
Thick eyebrow, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Proximal placemen... OMIM:300590
Macrocephaly, Benign Familial
Frontal bossing, Macrocephaly, Biparietal narrowing, Dolichocephaly OMIM:153470
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Short metacarpal, Toe syndactyly, Scapular winging, Micrognathia, Hypertelorism, Sh... OMIM:170390
Acromesomelic Dysplasia, Maroteaux Type
Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnor... ORPHA:40
Acromegaloid Facial Appearance Syndrome
Joint hypermobility, Highly arched eyebrow, Micrognathia, Tapered finger, Synophrys, Large hands,... OMIM:102150
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Hypertelorism, Cryptorchidism, Long nose, Abnormal rib morp... ORPHA:52
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Hypertelorism, Short thumb, H... ORPHA:2319
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Sandal gap, Rhizomelia, Abnormal pinna morphology, Cryptorchidism, Se... OMIM:607143
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Mixed hearing impairment, Lumbar hyperlordosis, Large tarsal bones, Microgn... OMIM:215150
Rubinstein-Taybi Syndrome 2
Syndactyly, Thick eyebrow, Broad hallux, Posteriorly rotated ears, Highly arched eyebrow, Microgn... OMIM:613684
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Microcephaly, Vertebral segmentation defect, Bip... ORPHA:1915
Roifman Syndrome
Hip contracture, Biconvex vertebral bodies, Short metacarpal, Single transverse palmar crease, Sh... OMIM:616651
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Pitt-Hopkins Syndrome
Short fourth metatarsal, Single transverse palmar crease, Short neck, Narrow foot, Deeply set eye... OMIM:610954
X-Linked Intellectual Disability, Cabezas Type
Short palm, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short ne... ORPHA:85293
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Shallow orbits, Short palm, Short phalanx... OMIM:258480
Mietens Syndrome
Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit... ORPHA:2557
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma... ORPHA:1275
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Highly arched eyebrow, Metatarsus val... ORPHA:1388
Trigonocephaly 2
Trigonocephaly, Depressed nasal bridge, Wide nasal bridge OMIM:614485
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Shallow orbits, Conducti... OMIM:150250
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... ORPHA:50809
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... OMIM:600373
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Shashi-Pena Syndrome
Short metacarpal, Posteriorly rotated ears, Highly arched eyebrow, Hypertelorism, Kyphosis, Synop... OMIM:617190
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Abnormality of the vert... OMIM:314390
Zechi-Ceide Syndrome
Sandal gap, Short metatarsal, Wide nasal bridge, Small nail, Long foot, Short distal phalanx of f... OMIM:612916
Acrootoocular Syndrome
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, Hypotelorism, Conductive ... ORPHA:2980
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypertelorism, Pectus excavatum, Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum,... ORPHA:166024
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Short clavicles, Hypoplastic pelvis, Retrognathia OMIM:618022
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... ORPHA:3320
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... OMIM:123150
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Alopecia, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic oss... ORPHA:337
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Short metatarsal, Low anter... OMIM:617137
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing impairment, Vertebral fusi... ORPHA:959
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Short neck, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin... OMIM:266920
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Genu recurvatum, Camptodactyly of finger, Short neck, Coxa val... ORPHA:1425
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Reduced bone mineral de... ORPHA:2370
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormali... ORPHA:3098
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... ORPHA:79445
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Frontal bossing, Depressed nasal bridge, Anteve... OMIM:617364
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Developmental And Epileptic Encephalopathy 95
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Long nose,... OMIM:618143
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Intellectual Disability, Wolff Type
Microretrognathia, Camptodactyly of finger, Hypertelorism, Cryptorchidism, Macrotia, Limitation o... ORPHA:3080
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Rocker bottom foot, Short ne... OMIM:618393
Metaphyseal Acroscyphodysplasia
Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micro... ORPHA:1240
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br... OMIM:113300
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short... OMIM:619638
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short neck, Short toe, Short metatarsal, Osteoporosis, Subcutaneous ossificatio... OMIM:103580
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... OMIM:263750
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... OMIM:239000
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Short t... OMIM:609441
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone miner... ORPHA:2611
Shox-Related Short Stature
Short neck, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Skeletal mu... ORPHA:314795
Eiken Syndrome
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... ORPHA:79106
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... ORPHA:99642
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Posteriorly rotated ears, Sparse eyelashes, Short neck, Micrognathia, Small ha... ORPHA:1787
Tetrasomy X
Premature ovarian insufficiency, Hypertelorism, Joint hyperflexibility, Radioulnar synostosis, Hi... ORPHA:9
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... OMIM:613091
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Anisospondyly, Hypertelorism, Short thorax, Abnormal rib morphology, ... ORPHA:2484
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor... OMIM:618019
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies
Flattened knee epiphyses, Wide nasal bridge, Broad nasal tip OMIM:600093
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi... OMIM:600383
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Catel-Manzke Syndrome
Single transverse palmar crease, Short neck, Micrognathia, Pectus carinatum, Clinodactyly of the ... OMIM:616145
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... OMIM:274000
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Single transverse palmar crease, Abnormality of hair texture, Short... OMIM:601957
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Hypertelorism, Cryptorchidism, Sensorineural hearing impairm... ORPHA:464288
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal bridge, Brachycephaly, Plagioc... OMIM:618577
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Short neck, Microcephaly, Biparietal narrowing, Low... ORPHA:251038
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Hypoplastic fifth toenail, Misc... ORPHA:2438
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Short neck, Low posterior... ORPHA:2183
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Hypertelorism, Metatarsus adductus, Elbow disl... ORPHA:2804
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... ORPHA:971
Monosomy 5P
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Recurrent fractures, Sho... ORPHA:281
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
16Q24.3 Microdeletion Syndrome
Frontal bossing, Proximal placement of thumb, Micrognathia, Kyphosis, Protruding ear, Hip dysplas... ORPHA:261250
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ear,... ORPHA:192
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in... OMIM:256050
Diastrophic Dysplasia
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Abnormal for... ORPHA:628
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Micrognathia, Short neck, Microcephaly, Tapere... ORPHA:251071
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... ORPHA:166011
15Q14 Microdeletion Syndrome
Microcephaly, Kyphosis, Biparietal narrowing, Low-set ears, Scoliosis ORPHA:261190
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Anteverted nares, Wide nasal bridge, 2-3 toe syndactyly, Horizontal eyebrow, Clinodactyly OMIM:619311
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Grant Syndrome
Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Abnormal rib mor... ORPHA:2097
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Protruding ear, Biparietal narrowing, Scoliosis, Microcephaly ORPHA:2518
2Q31.1 Microdeletion Syndrome
Short neck, Micrognathia, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterio... ORPHA:251014
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific... OMIM:210710
Non-Distal Duplication 10Q
Frontal bossing, Depressed nasal bridge, Micrognathia, Pectus excavatum, Brachycephaly, Short nos... ORPHA:1695
Occipital Horn Syndrome
Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Kyph... OMIM:304150
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... OMIM:617396
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hypertelorism, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis,... OMIM:300434
Moebius Syndrome
Short neck, Micrognathia, Congenital fibrosis of extraocular muscles, Lower limb undergrowth, Sho... OMIM:157900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Conductive hearing impairment, Spina b... OMIM:218600
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... ORPHA:50945
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Highly arched eyebrow, Short toe, Sensorineural hearin... OMIM:600430
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Anterior encephalocele, Foot oligodactyly, Low-set ears, Scoliosis, Amelia OMIM:601357
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger... OMIM:313420
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Hypogonadism, Brachydactyly OMIM:612462
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Osteopenia, Sandal gap, Posteriorly rotated ears, Pectus excavatum, Conductive ... OMIM:617877
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Microtia, Biparietal narrowing, Atresia of the external audito... ORPHA:1770
Non-Distal Deletion 10Q
Clinodactyly of the 5th finger, Overlapping fingers, Biparietal narrowing, Brachydactyly ORPHA:1581
Weaver Syndrome
Micrognathia, Hypoplastic toenails, Low-set, posteriorly rotated ears, Finger syndactyly, Deep-se... ORPHA:3447
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Hypertelorism, Increased intervertebral space, Thoracic pla... OMIM:618961
Adenylosuccinate Lyase Deficiency
Short nose, Flat occiput, Anteverted nares, Brachycephaly ORPHA:46
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Posteriorly rotated ears, M... OMIM:211750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Pectus excavatum, Osteoporosis, Ankle clonus, Low-set ears, S... OMIM:615398
Gómez-López-Hernández Syndrome
Turricephaly, Anteverted nares, Brachycephaly, Alopecia of scalp, Toenail dysplasia, Midface retr... ORPHA:1532
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Hypertelorism, Genu valgum, Short p... ORPHA:3210
Cranioectodermal Dysplasia 1
Single transverse palmar crease, Hypotelorism, Protruding ear, Narrow chest, Sparse hair, Joint l... OMIM:218330
Joubert Syndrome
Abnormal form of the vertebral bodies, Hand polydactyly, Foot polydactyly, Scoliosis, Biparietal ... ORPHA:475
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Sparse facial hair, Sparse axillary hair, Sensorineural hearing impairment, Genu valg... OMIM:608154
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Narrow palm, Small hand, Short foot, Abn... ORPHA:177910
Intellectual Developmental Disorder, Autosomal Dominant 23
Depressed nasal bridge, Anteverted nares, Sandal gap, Postaxial polydactyly, Micrognathia, Bulbou... OMIM:615761
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Missing ribs,... OMIM:184705
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
1Q44 Microdeletion Syndrome
Frontal bossing, Micrognathia, Microcephaly, Biparietal narrowing, Scoliosis ORPHA:238769
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr... OMIM:216340
Aase-Smith Syndrome
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,... ORPHA:916
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Overlapping toe, Absent earlobe, Kyphosis, Bilateral camptodactyly, Syno... OMIM:619557
Cornelia De Lange Syndrome 5
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip... OMIM:300882
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Microcephaly, Brachycephaly, Symphalangism affecting the phalanges of the hand, ... ORPHA:1292
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... ORPHA:3266
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... ORPHA:2631
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Trisomy 4P
Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal hair pattern, Short neck, Hy... ORPHA:1738
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Hypertelorism, Kyphosis, Upper limb undergrowth, Lower limb hypertonia... OMIM:169400
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Mosaic Trisomy 9
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Short neck, Microcephaly, Micromelia, ... ORPHA:99776
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Distal Duplication 5Q
Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Absent thumb, Hypertelorism, Cryptorchidi... ORPHA:96097
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short neck, Micrognathia, Thoracic kyphosis, Narrow chest, Abnormal bone ossification, Abnormal f... ORPHA:163649
Nicolaides-Baraitser Syndrome
Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int... OMIM:601358
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Lon... ORPHA:508533
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Hand polydactyly, Foot polydactyly, Biparietal narrowing, Scol... ORPHA:220493
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Low anterior hairline, Brachycephaly, Cone-shaped epiphyses... OMIM:602849
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Jo... ORPHA:2167
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... OMIM:276820
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Hypertelorism, Delayed epiphyseal ... ORPHA:166016
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Bilateral single transverse palmar creases, ... ORPHA:1001
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
2Q32Q33 Microdeletion Syndrome
Broad hallux phalanx, Anteverted nares, Prominent nasal bridge, Arachnodactyly, Micrognathia, Bra... ORPHA:251019
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... ORPHA:3186
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... ORPHA:429
Peho Syndrome
Microcephaly, Tapered finger, External ear malformation, Biparietal narrowing, Malar flattening, ... ORPHA:2836
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Abnormal... ORPHA:2145
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... OMIM:614900
Ring Chromosome 6 Syndrome
Hypertelorism, Short neck, Wide nasal bridge, Low posterior hairline, Macrotia, Short distal phal... ORPHA:1448
Joubert Syndrome With Oculorenal Defect
Low-set, posteriorly rotated ears, Hand polydactyly, Foot polydactyly, Biparietal narrowing, Scol... ORPHA:2318
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Broad nasal tip, Pectus excavatum, Wide nasal bridge, Short palm, Clinodactyly ORPHA:73273
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebr... OMIM:600092
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, ... OMIM:613792
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly, Wide nasal bridge, Dolichocephaly, Prominent nose OMIM:617169
Pentasomy X
Camptodactyly of finger, Micrognathia, Small hand, Wide nasal bridge, Short foot, Plagiocephaly, ... ORPHA:11
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Frontal bossing, Broad hallux, 1-3 toe syndactyly, Trigonocephaly, Craniosy... OMIM:175700
Waardenburg Syndrome, Type 3
Scapular winging, Partial albinism, Prominent nasal bridge, Camptodactyly of finger, Synophrys, B... OMIM:148820
Velo-Facial-Skeletal Syndrome
Prominent fingertip pads, Abnormal thumb morphology, Wide nasal bridge, Large hands, Short palm, ... ORPHA:3424
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Sensorineural hearing... ORPHA:2790
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Brachydactyly, Highly arched eyebrow, Broad nasal tip, Craniosynostosis, Pectus excav... OMIM:619451
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Narrow nasal bridge, Brachydactyly, Flat occiput, Abnormal thumb morphology, Pectus excavatum, Ab... ORPHA:2511
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Thickened helices, Joint stiffness, Sho... OMIM:608328
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly OMIM:614416
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Rocker bottom foot, Single transverse palmar crease, Short neck, Microgn... OMIM:611890
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Cupped ear,... ORPHA:1352
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Equinovarus def... ORPHA:319195
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Highly ar... ORPHA:1327
Potocki-Shaffer Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Parietal foramina, Micrognath... ORPHA:52022
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Abnormal pinna morphology, Short neck, Micrognathia, Cryptorchid... ORPHA:3404
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Lateral c... ORPHA:1801
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra... ORPHA:157965
Acrocephalopolydactyly
Genu recurvatum, Short neck, Hypertelorism, Short long bone, Microtia, Limb undergrowth, Short no... ORPHA:221054
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B... OMIM:255800
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micromelia, Hypertelorism, Ab... ORPHA:1597
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Posteriorly rotated ears, Flexion contracture, Hype... OMIM:619479
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ... OMIM:130070
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Frontal bossing, Craniosynostosis, Preax... ORPHA:380
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Anteverted nares, Tapered finger, Depressed nasal ridge, Small hand, Brachycephaly, Low posterior... OMIM:618672
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Cebalid Syndrome
Turricephaly, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ri... OMIM:618774
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... ORPHA:249
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Underdeveloped nasal alae, Albinism, Synophrys,... OMIM:193510
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Micrognathia, Pectus carinatum, Hypotelorism, Conductive hearing impairment, Clinodac... ORPHA:3082
Lig4 Syndrome
Micrognathia, Microcephaly, Brachycephaly, Biparietal narrowing, Clinodactyly of the 5th finger ORPHA:99812
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, 11 pairs of ribs, Brachydactyly, Depressed nasal bridge, Broad hallux, Clino... OMIM:620073
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Hand polydactyly, Biparietal narrowing, Scoliosis ORPHA:220497
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Tarsal synostosis, Hypopigmented skin patches, B... ORPHA:53271
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... ORPHA:2635
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Posteriorly rotated ears, Kyphosis, Pectus carinatum, Reduced bone mineral density, Delayed ossif... OMIM:618392
Charlie M Syndrome
Finger syndactyly, Abnormal fingernail morphology, Micrognathia, Split hand, Wide nasal bridge, T... ORPHA:1406
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Congenital hip dislocation, Brittle hair, Congenital diaph... OMIM:305600
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Absent pubic hair, Sparse hair, Absent eyebrow, Alopecia, Brittle scalp hair,... ORPHA:189
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Postaxial polydactyly OMIM:612913
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Low anterior hair... OMIM:300232
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... ORPHA:1328
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe... OMIM:208500
Omodysplasia 1
Short humerus, Increased fibular diameter, Rhizomelia, Short neck, Micrognathia, Limited knee fle... OMIM:258315
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Missing ribs, Micromelia, Micrognathia... OMIM:617866
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Biparietal narrowing, Low-set, posteriorly rotated ears, Protrudi... ORPHA:2031
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Frontal bossing, Sacral dimple, Toe syndactyly, Camptodactyly of finger, M... ORPHA:261337
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Posteriorly rotated ears, Micromelia, Micrognathia... ORPHA:93329
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Abnormal pinna morphology, Hypertelorism, Pectus excavatum, Cryptorchidism, Widow's peak, Small h... OMIM:614684
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... OMIM:602271
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Metaphyse... ORPHA:536471
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Pseudohypoparathyroidism Type 1C
Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Hypergonado... ORPHA:79444
Pitt-Hopkins Syndrome
Pes planus, Single transverse palmar crease, Supernumerary nipple, Tapered finger, Short neck, Cr... ORPHA:2896
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Cleft ala nasi, Wide nasal bridge, Underdeveloped nasal alae ORPHA:2007
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Pseudodiastrophic Dysplasia
Frontal bossing, Rhizomelia, Phalangeal dislocation, Anteverted nares, Micrognathia, Hypoplasia o... OMIM:264180
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Dense metaphyseal bands, Osteopenia, Slender long bones with narrow diaphyses, Sensorineural hear... ORPHA:50811
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Prominent fingertip pads, Frontal bossing, Arachnodactyly, Hyperconvex nail, Postaxial polydactyl... OMIM:619721
Joubert Syndrome 10
Frontal bossing, Postaxial polydactyly, Wide nasal bridge, Hirsutism OMIM:300804
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femo... OMIM:620076
Even-Plus Syndrome
Epiphyseal dysplasia, Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, B... OMIM:616854
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Thoracic... OMIM:600325
Monosomy 18Q
Mandibular prognathia, Arachnodactyly, Kyphoscoliosis, Microcephaly, Tapered finger, Pectus excav... ORPHA:1600
Rothmund-Thomson Syndrome
Osteopenia, Reduced bone mineral density, Sparse hair, Hypopigmentation of the skin, Abnormality ... ORPHA:2909
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fourth metatarsal, Short fifth metatarsal, Alopecia, Joint hypermobility, Trichorrhexis nod... OMIM:261990
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Diaphyseal sclerosis, Wide nas... OMIM:122860
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop... OMIM:135100
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Brachycephaly, Dolichocephaly, Clinodactyly... OMIM:617752
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Frontal bossing, Syndactyly, Mesoaxial polydactyly, Micrognath... ORPHA:2754
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Turricephaly,... ORPHA:171839
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, Clinodactyl... OMIM:268305
Pierpont Syndrome
Posteriorly rotated ears, Short neck, Hypertelorism, Cryptorchidism, Short toe, High anterior hai... OMIM:602342
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Craniosynostosis, Brachycephaly, Melanocytic nevus, Midface retrusion OMIM:612247
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Pierpont Syndrome
Joint laxity, Pes planus, Posteriorly rotated ears, Uplifted earlobe, Short neck, Hypertelorism, ... ORPHA:487825
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... OMIM:609325
Kuskokwim Syndrome
Abnormal clavicle morphology, Talipes, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnorm... ORPHA:1149
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... OMIM:619751
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Micrognathia, Irregular vertebral endplates, Knee dislocation, Microretrognathia, Hyperlordosis, ... OMIM:618363
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Deep-set nails, Overlapping toe, Single transverse palmar crease, Posteriorly r... OMIM:201170
Fibrochondrogenesis 2
Frontal bossing, Anteverted nares, Thoracic hypoplasia, Hypoplastic ischia, Micrognathia, Hypopla... OMIM:614524
Orofaciodigital Syndrome Xviii
Sandal gap, Prominent nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Wide nasal bridg... OMIM:617927
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Abnormal morphology of ulna, Short neck, Pect... ORPHA:1340
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Micrognathia, Short neck, Hypertelorism, Sensorineural hearing impa... OMIM:614230
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Low anterior hairline, Narrow chest, 2-... OMIM:617746
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax... ORPHA:163654
Intellectual Developmental Disorder, Autosomal Dominant 26
Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Micrognathia, Wide nasal bridge,... OMIM:615834
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Proximal placement of thumb, Hypertelorism, Abnormal thumb morphology, Sensori... ORPHA:1825
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Posteriorly rotated ears, Congenital diaphragmatic hernia, Short nec... OMIM:263210
Lathosterolosis
Abnormal thoracic spine morphology, Toe syndactyly, Micrognathia, Microcephaly, Postaxial hand po... ORPHA:46059
Chromosome 16Q22 Deletion Syndrome
Broad hallux, Single transverse palmar crease, Posteriorly rotated ears, Micrognathia, Short neck... OMIM:614541
Ring Chromosome 1 Syndrome
Clinodactyly of the 5th finger, Anteverted nares, Wide nasal bridge, Abnormal hair pattern ORPHA:1437
Steel Syndrome
Carpal synostosis, Pes planus, Lumbar hyperlordosis, Hypertelorism, Sensorineural hearing impairm... OMIM:615155
Pseudohypoparathyroidism Type 1A
Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Hypergonado... ORPHA:79443
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hearing impairment... OMIM:620099
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Abnormality of skin pigmen... ORPHA:84
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Abnormal m... ORPHA:1307
Peters-Plus Syndrome
Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Limited e... OMIM:261540
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Depressed nasal bridge, Micrognathia, Brachycephaly... ORPHA:1387
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Tapered finger, Synophrys, Wide nasal bridge, Brachycephaly, Horizontal eyebrow, Clinodactyly of ... ORPHA:352530
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Aplasia/hypoplasia of the e... OMIM:146000
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Tapered finger, Pectus excavatum, Kyphosis, Hypertelorism, Pectus carinatum, Large hands, Scoliosis ORPHA:276630
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Depressed nasal bridge, Brachycephaly, Wide nasal bridge, Pigmentary retinopathy OMIM:264470
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Shor... ORPHA:1147
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypertelorism, Flar... ORPHA:93346
Tetrasomy 9P
Myositis, Short neck, Micrognathia, Deeply set eye, Inappropriate behavior, Clinodactyly of the 5... ORPHA:3310
Cerebrooculofacioskeletal Syndrome 4
Posteriorly rotated ears, Rocker bottom foot, Kyphoscoliosis, Camptodactyly of finger, Micrognath... OMIM:610758
Microtriplication 11Q24.1
Attached earlobe, Posteriorly rotated ears, Short neck, Metatarsus adductus, Hypertelorism, Synop... ORPHA:289522
Seckel Syndrome 1
11 pairs of ribs, Ivory epiphyses, Pes planus, Sandal gap, Abnormal finger flexion crease, Talipe... OMIM:210600
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... ORPHA:1836
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Depressed nasal ridge,... ORPHA:1355
Acrofrontofacionasal Dysostosis
Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Brushfield spots, Hypopigmen... ORPHA:1784
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck... ORPHA:264450
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Skeletal muscle atrophy, Rocker bottom foot, Equinovarus deformity, Micrognathia... ORPHA:1143
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Flexion contracture, Hypotelorism, Deeply set eye, Narrow chest, Genera... OMIM:264090
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Recurrent fractures, Short neck, Micr... ORPHA:1486
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Protruding ear, Reduced bone mineral dens... ORPHA:93315
Trisomy 5P
Hypertelorism, Protruding ear, Scoliosis, Abnormal metacarpal morphology ORPHA:1742
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... ORPHA:83468
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Short neck, M... OMIM:114300
49,Xyyyy Syndrome
Low-set, posteriorly rotated ears, Abnormality of the epiphyses of the elbow, Decreased testicula... ORPHA:99330
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly OMIM:604381
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Wi... OMIM:259420
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Triphalangeal thumb, Abnormality of the mall... ORPHA:949
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
8Q12 Microduplication Syndrome
Short foot, Brachycephaly, Wide nasal bridge, Highly arched eyebrow ORPHA:228399
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Pes planus, Short metacarpal, Absent eyebrow, Alopecia, Craniosynostosis, Microgna... ORPHA:166035
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate ribs, Wide nasal bridge... OMIM:618188
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Shallow orbits, Phocomelia, ... OMIM:268300
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Abnormality of the nail, Large tarsal... ORPHA:3168
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Malar prominence, Hyperlordosis, Micrognathia, Short neck, Microcep... ORPHA:2522
Kniest Dysplasia
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairm... OMIM:156550
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Rhizomelia, Short nec... OMIM:108721
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal ORPHA:228190
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex, Short tubular bones of ... ORPHA:85184
Leri Pleonosteosis
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... ORPHA:2900
Microcephaly-Micromelia Syndrome
Micromelia, Missing ribs, Short neck, Absent thumb, Absent radius, Humeroradial synostosis, Micro... OMIM:251230
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia... OMIM:615994
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Hip subluxation OMIM:620200
Basal Cell Nevus Syndrome 1
Palmar pits, Plantar pits, Hemivertebrae, Abnormal sternum morphology, Vertebral fusion, Spina bi... OMIM:109400
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, Patchy reduction of bone m... ORPHA:221120
German Syndrome
Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Synop... ORPHA:2077
Filippi Syndrome
Underdeveloped nasal alae, Postnatal growth retardation, 2-4 toe syndactyly, Wide nasal bridge, H... OMIM:272440
Vitamin K Antagonist Embryofetopathy
Hearing impairment, Short neck, Hypertelorism, Myelomeningocele, Punctate vertebral calcification... ORPHA:1914
Ivic Syndrome
Aplastic clavicle, Hearing impairment, Joint stiffness, Preaxial hand polydactyly, Short thumb, H... ORPHA:2307
Dysostosis Multiplex, Ain-Naz Type
Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular roof, Elongated femoral... OMIM:619345
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, Bulbous nose, Synophrys, L... OMIM:618828
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... ORPHA:2502
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Microretrognathia, Joint laxity, Wide nasal bridge, Short clavicles, Short 4th metacarpal OMIM:606220
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... ORPHA:536467
Wiedemann-Steiner Syndrome
Elbow hypertrichosis, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Short phalanx of f... OMIM:605130
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Skeletal muscle atrophy, Hypoplastic scapulae, Camptodactyly of finger, Sparse axi... OMIM:256040
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy
Synophrys, Low anterior hairline, Wide nasal bridge OMIM:619844
Gand Syndrome
Long toe, Broad nasal tip, Long fingers, Wide nasal bridge, Sparse hair OMIM:615074
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Micrognathia, Conductive hearing impairment, Wide nasal bridge, Short foot, Microtia, Joint contr... OMIM:248910
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Hypertelorism, Joint stiffness, Kyphosis, Osteolysis, W... ORPHA:137834
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Short neck, Short palm, Clinodactyly of the 5th... ORPHA:915
Non-Syndromic Metopic Craniosynostosis
Trigonocephaly, Synophrys, Wide nasal bridge ORPHA:3366
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Hypoplasia of the femoral head, Hypertelor... OMIM:607014
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Depressed nasal bridge, Choanal atresia, Arachnodactyly, Rocker bottom foot, Wid... OMIM:207410
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Skeletal muscle atrophy, Abnor... ORPHA:570
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Sensorineural hearing... OMIM:194350
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Anauxetic Dysplasia 1
Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Joint laxity, Lumbar hyperlordosi... OMIM:607095
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Brachycephaly, Choanal s... OMIM:619859
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Lateral cla... OMIM:617895
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Pectus excavatum, Brachycephaly, Pectus carinatum, Plagiocephaly, Clinodactyly of... OMIM:619910
Acrofrontofacionasal Dysostosis 2
Syndactyly, Sacral dimple, Broad hallux, Posteriorly rotated ears, Hypertelorism, Wide anterior f... OMIM:239710
White Forelock With Malformations
Hypertelorism, White forelock, Poliosis, Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:277740
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy... OMIM:154780
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Craniosynostosis, Micrognathia, Sparse... OMIM:250410
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Facial palsy, Hypertelorism, Metaphyseal widening, Cranial hyperostosis... OMIM:123000
Hall-Riggs Syndrome
Metaphyseal dysplasia, Hypertelorism, Kyphosis, Osteoporosis, Irregular vertebral endplates, Plat... OMIM:234250
Intellectual Developmental Disorder, X-Linked 104
Bifid nasal tip, Frontal upsweep of hair, Wide nasal bridge, Trigonocephaly OMIM:300983
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Central heterochromia, Short neck, Micr... ORPHA:233
Intellectual Developmental Disorder, Autosomal Recessive 61
Joint laxity, Decreased muscle mass, Posteriorly rotated ears, Thick hair, Highly arched eyebrow,... OMIM:617773
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Micrognathia, Kyphosis,... ORPHA:3409
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fourth metatarsal, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Synophr... OMIM:619841
Ulnar-Mammary Syndrome
Abnormal clavicle morphology, Hypoplastic toenails, Aplasia of the pectoralis major muscle, Abnor... ORPHA:3138
Recombinant Chromosome 8 Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Postnatal growth retardation, Pectus exca... OMIM:179613
Craniometaphyseal Dysplasia, Autosomal Recessive
Metaphyseal dysplasia, Abnormal nasopharynx morphology, Abnormal thorax morphology, Flared metaph... OMIM:218400
Xylt1-Cdg
Joint laxity, Pes planus, Coxa valga, Synophrys, Flared metaphysis, Short long bone, Proptosis, S... ORPHA:370930
Mosaic Trisomy 14
Frontal bossing, Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia,... ORPHA:1703
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, A... OMIM:250420
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Frontal bossing, Depressed nasal bridge, Tapered finger, Pectus excavatum, ... OMIM:607131
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Bip... ORPHA:818
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Vulto-Van Silfhout-De Vries Syndrome
Frontal bossing, Widow's peak, 2-3 toe cutaneous syndactyly, Brachycephaly, Fine hair, Horizontal... OMIM:615828
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Posteriorly rotated ears, Short hallux, Hyperteloris... ORPHA:3224
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ... OMIM:619995
Refsum Disease
Skeletal muscle atrophy, Short metacarpal, Abnormality of retinal pigmentation, Abnormal foot mor... ORPHA:773
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Femoral bowing, Pectus carinatum, Enlarged thorax, Protruding ear, Reduc... OMIM:614856
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... ORPHA:3201
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Pectus carinatum, Protr... OMIM:303600
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... OMIM:619795
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Brachycephaly OMIM:309545
Tarp Syndrome
Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavat... OMIM:311900
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... ORPHA:485
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Coarse hair, Narrow chest, Short palm, La... ORPHA:198
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, Short palm, S... OMIM:249420
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Postnatal growth retardation, Wide nasal bridge, Multip... ORPHA:3369
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Protruding e... ORPHA:3041
9Q31.1Q31.3 Microdeletion Syndrome
Cervical kyphosis, Highly arched eyebrow, Tapered finger, Short neck, Thick hair, Small hand, Sho... ORPHA:401923
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitati... ORPHA:3101
Joubert Syndrome With Hepatic Defect
Postaxial hand polydactyly, Macrocephaly, Biparietal narrowing, Low-set ears, Scoliosis ORPHA:1454
Phocomelia, Schinzel Type
Micromelia, Short neck, Micrognathia, Abnormal tibia morphology, Protruding ear, Foot oligodactyl... ORPHA:2879
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Microg... ORPHA:2756
Alpha-Mannosidosis
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Hypertelorism, Kyphosis, Macrogl... ORPHA:61
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchi... OMIM:613390
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Micrognathia, Hypertelorism, Metaphyseal widening, Abnormal thorax morphol... ORPHA:73230
Refsum Disease, Classic
Short fourth metatarsal, Pes cavus, Limb muscle weakness, Sensorineural hearing impairment OMIM:266500
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Low-set, posteriorly rotated ears, Male infertility, Streak ovary, Unilateral cryp... ORPHA:1772
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture... OMIM:305620
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... OMIM:259600
Linear Nevus Sebaceus Syndrome
Frontal bossing, Prominent occiput, Plagiocephaly, Vertebral segmentation defect, Biparietal narr... ORPHA:2612
Boomerang Dysplasia
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... OMIM:112310
Sifrim-Hitz-Weiss Syndrome
Hypogonadotropic hypogonadism, Tapered finger, Hypertelorism, Cryptorchidism, Cupped ear, Flat ac... OMIM:617159
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Alopecia, Hypertelorism, Osteolysis involving bones of the upper limbs, Short thorax,... ORPHA:88630
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Abnormality of the hand, Sparse hair, Uncombable hair, Short... ORPHA:1264
Craniofrontonasal Syndrome
Ridged nail, Brachycephaly, Sprengel anomaly, Fragile nails, Clinodactyly of the 5th finger, Spli... OMIM:304110
Rothmund-Thomson Syndrome Type 2
Osteopenia, Long nose, Patellar hypoplasia, Sparse hair, Hypopigmentation of the skin, Short phal... ORPHA:221016
Anonychia-Ectrodactyly
Anonychia, Split hand, Aplasia of metacarpal bones OMIM:106900
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Hypertelorism, Abnormal rib morphology, Joi... ORPHA:2475
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Arachnodactyly, Anteverted nares, Choanal atresia, Camptodactyly o... ORPHA:83
Roifman Syndrome
Hip contracture, Biconvex vertebral bodies, Epiphyseal dysplasia, Bilateral single transverse pal... ORPHA:353298
Hypomelanosis Of Ito
Syndactyly, Alopecia, Hypertelorism, Kyphosis, Macular hypopigmented whorls, streaks, and patches... OMIM:300337
Phaver Syndrome
Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Short t... ORPHA:2876
Rothmund-Thomson Syndrome Type 1
Osteopenia, Patellar hypoplasia, Sparse hair, Hypopigmentation of the skin, Short phalanx of fing... ORPHA:221008
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Three M Syndrome 1
Pes planus, Scapular winging, Joint hypermobility, Hyperlordosis, Short neck, Increased vertebral... OMIM:273750
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... ORPHA:93360
Achondrogenesis, Type Ii
Microretrognathia, Frontal bossing, Barrel-shaped chest, Broad long bones, Short tubular bones of... OMIM:200610
Fg Syndrome 4
Wide nasal bridge OMIM:300422
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Micrognathia, Short thumb, Wide nasal bridge... OMIM:618821
Mycetoma
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Structural foot defor... ORPHA:2583
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Peroneal muscle weakness, Facial palsy, To... OMIM:181405
Intellectual Developmental Disorder, Autosomal Recessive 79
Short hallux, Broad nasal tip, Long fingers, Wide nasal bridge, Clinodactyly of the 5th finger, S... OMIM:620393
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... OMIM:613451
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Postnatal growth retardation, Brachycephaly, Pectus carinatum, Short ... OMIM:615419
Rafiq Syndrome
Wide nose, Flat occiput, Highly arched eyebrow, Prominent nose, Sparse eyebrow, Long eyebrows, Bu... OMIM:614202
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Small earlobe, Low-set, posteriorly rotated ears, ... ORPHA:2886
Hall-Riggs Syndrome
Slow-growing hair, Thick hair, Hypertelorism, Joint stiffness, Wide nasal bridge, Platyspondyly, ... ORPHA:2107
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Wide nasal bridge, Do... ORPHA:1516
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:178377
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Brachycephaly, Abnormal metacarpal morphology, Co... ORPHA:93262
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Hypertelorism, Kyphosis, Cry... OMIM:619797
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... ORPHA:86822
C Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Toe syndactyly, Micromelia, Micrognathia, Short... ORPHA:1308
Freeman-Sheldon Syndrome
Camptodactyly of finger, Hypertelorism, Joint stiffness, Cryptorchidism, Wide nasal bridge, Ulnar... ORPHA:2053
Symphalangism, Proximal, 1A
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:185800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... ORPHA:163966
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Woods Syndrome
Supernumerary nipple, 3-4 finger cutaneous syndactyly, Broad nail, Wide nasal bridge, Hypoplastic... OMIM:615236
Arthrochalasia Ehlers-Danlos Syndrome
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Micrognathia, Hypertelorism, Joi... ORPHA:1899
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Craniosynostosis, Long fingers, Bulbous nose, Wide nasal bridge, B... OMIM:613174
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Tapered finger, Short 3rd toe, Short thumb, Split hand, Low anterior hairline, Wide nas... OMIM:618569
Trigonocephaly With Short Stature And Developmental Delay
Sagittal craniosynostosis, Trigonocephaly, Wide nasal bridge, Lambdoidal craniosynostosis, Clinod... OMIM:314320
Megalencephaly
Frontal bossing, Wide nasal bridge, Genu valgum, Prominent occiput, Dolichocephaly ORPHA:2477
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Hypertelorism, Abnormal hand bo... OMIM:300244
Kury-Isidor Syndrome
Finger syndactyly, Alopecia, Brachydactyly, Anteverted nares, Rocker bottom foot, Proximal placem... OMIM:619762
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Depressed nasal bridge, Overlapping toe, Highly arched eyebrow, Postaxial polydactyly, Micrognath... OMIM:618142
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Sparse eyebrow, Onychogryposis of toenails, Wide nasal bridge, 2-3 toe syndactyly, 3-4 finger syn... OMIM:600906
Bent Bone Dysplasia Syndrome 1
Bent long bone, Micrognathia, Hypertelorism, Hypoplastic pubic bone, Bell-shaped thorax, Decrease... OMIM:614592
Desanto-Shinawi Syndrome
Depressed nasal bridge, Bulbous nose, Synophrys, Hirsutism, Brachycephaly, Midface retrusion, Thi... OMIM:616708
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
High anterior hairline, Anteverted nares, Brachycephaly OMIM:618859
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Arachnodactyly, Camptoda... ORPHA:2994
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hypertelorism, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... ORPHA:2180
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormal intervertebral disk morphology, Ab... ORPHA:2701
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Depressed nasal bridge, Craniosynostosis, Pectus excavatum, Brachycephaly ORPHA:314575
Achard Syndrome
Broad skull, Arachnodactyly, Brachycephaly, Micrognathia OMIM:100700
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... OMIM:226980
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Broad hallux, Facial hypotonia, Hearing impairment, Tapered finger, Micrognathia, ... OMIM:618659
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... ORPHA:508488
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Underdeveloped nasal alae, Abnormal hai... ORPHA:894
Craniosynostosis 6
Turricephaly, Craniosynostosis, Parietal foramina, Low anterior hairline, Brachycephaly, Plagioce... OMIM:616602
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Short neck, Micrognathia, Femoral bowing, Tibial bowing, Knee fl... OMIM:601559
Macrocephaly/Autism Syndrome
Frontal bossing, Postnatal macrocephaly, Biparietal narrowing, Midface retrusion OMIM:605309
Larsen-Like Syndrome
Joint laxity, Kyphoscoliosis, Hypertelorism, Wide anterior fontanel, Conductive hearing impairmen... OMIM:608545
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Hearing impairment, Abnormal thorax morphology, Rhizomelic arm s... ORPHA:508542
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal hair morphology, Abnormal foot morpholo... ORPHA:64754
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Arachnodactyly, Brachycephaly, Bilateral talipes equinovarus, Talipes equinovaru... OMIM:615539
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Cryptorchidism, Hypotelorism, Genu valgum, Microtia, Frontal upsweep of hair, Joint ... OMIM:617798
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Craniofacial hyperostosis, Abnormal pinna morphology, Facial palsy, Hypo... ORPHA:3068
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Skeletal muscle atrophy, Short femur, Sensorineural hearing impairment, Flexion co... ORPHA:17
Nance-Horan Syndrome
Short metacarpal, Protruding ear ORPHA:627
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Abnormal sacroiliac joint m... ORPHA:1807
Keipert Syndrome
Joint laxity, Broad hallux, Hypertelorism, Sensorineural hearing impairment, Absent toenail, Broa... OMIM:301026
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Hypertelorism, Kyphosis, Synophrys, Small hand, Short foo... ORPHA:238750
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Depressed nasal bridge, Bulbous nose, Clinodactyly, Low anterior hairline, Wide nasal... ORPHA:369891
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormality o... ORPHA:3130
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Pectus excavatum, ... ORPHA:776
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Abnormal pelvic ... OMIM:144750
Humeroradial Synostosis
Brachycephaly, Humeroradial synostosis, Wide nasal bridge OMIM:236400
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Limitation of joint mobility, Sacrococcygeal pilonidal abnormality, Hip ... ORPHA:2840
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost... ORPHA:3219
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Alopecia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, B... ORPHA:228390
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Long nose, Abn... ORPHA:2769
20P13 Microdeletion Syndrome
Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Highly arched eyebrow, Hy... ORPHA:313781
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca... OMIM:182212
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micro... ORPHA:245
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Frontal bossing, Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Brachycephaly,... OMIM:618430
Cooper-Jabs Syndrome
Frontal bossing, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ... ORPHA:1488
48,Xyyy Syndrome
Pes planus, Short neck, Hypertelorism, Abnormal foot morphology, Azoospermia, Radioulnar synostos... ORPHA:99329
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Alopecia, Brittle hair, Micrognathia, Flexion contracture, Proptosis, P... OMIM:608612
Aspartylglucosaminuria
Pes planus, Abnormal morphology of ulna, Hypertelorism, Joint stiffness, Wide nasal bridge, Pectu... ORPHA:93
Mucolipidosis Type Iv
Biparietal narrowing, Microcephaly ORPHA:578
Fgfr2-Related Bent Bone Dysplasia
Overfolding of the superior helices, Osteopenia, Hypoplastic ischia, Bowing of the legs, Microgna... ORPHA:313855
Radial Ray Hypoplasia With Choanal Atresia
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence OMIM:179270
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Sparse eyelashes, Sparse facial hair, Flaring of lower rib cage, Sparse ey... OMIM:250250
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Epiphyseal stippling, Wide nasal bridge OMIM:614870
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Hypertelorism, Wide anterior ... OMIM:300963
Alagille Syndrome 1
Hypoplasia of the ulna, Hypertelorism, Long nose, Abnormal rib morphology, Hemivertebrae, Deeply ... OMIM:118450
Geleophysic Dysplasia 1
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Pectus excavatum, Joint stiffness, S... OMIM:231050
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Underdeveloped nasal alae, Abnormal eyelash morphology, Abnormality of t... ORPHA:1794
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Frontal bossing, Anteverted nares, Prominent nasal bridge, Tapered finger, Promi... OMIM:616801
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middle phalanx of finger, Abnorm... ORPHA:63442
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Synophrys, Hypoplastic vertebral bodies, Deeply set eye, Sparse hair, Long toe, Hypog... ORPHA:3455
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... OMIM:271600
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short metacarpal, Short nail, Short thumb, Abnormal metacarpal morphology, Duplication of the dis... ORPHA:973
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Sacral dimple, Brachydactyly, Short neck, Hypertelorism, Short metatarsal, Wide... OMIM:617157
3Q13 Microdeletion Syndrome
Narrow chest, Anteverted nares, Wide nasal bridge ORPHA:1621
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Rhizomelia, Craniosynostosis, Micrognathia, Hypertelorism, Cryptorc... ORPHA:2645
Kbg Syndrome
Vertebral fusion, Single transverse palmar crease, Abnormal hair pattern, Short neck, Hypertelori... ORPHA:2332
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Clinodactyly of the 5th finger, Joint laxi... OMIM:619293
Marden-Walker Syndrome
Decreased muscle mass, Arachnodactyly, Short neck, Micrognathia, Kyphosis, Wide anterior fontanel... OMIM:248700
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the knee,... ORPHA:93316
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Micrognathia, Underdeveloped nasal alae, Pectus excavatum, Depressed nasal ridge, Wide nasal brid... ORPHA:77300
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Joint laxity, Hypoplasia of the femoral he... OMIM:610797
Robinow Syndrome, Autosomal Recessive 2
Frontal bossing, Midface retrusion, Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, ... OMIM:618529
Pallister-Hall Syndrome
Hemivertebrae, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly... OMIM:146510
Marinesco-Sjögren Syndrome
Short palm, Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphy... ORPHA:559
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Po... ORPHA:474
Frontonasal Dysplasia 1
Broad nasal tip, Bifid nasal tip, Widow's peak, Postaxial hand polydactyly, Hypoplastic frontal s... OMIM:136760
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Verteb... OMIM:611209
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Prominent nasal bridge, Short thumb, Synophrys, Wide nasal bridge, Short nose, Mid... ORPHA:401935
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... ORPHA:521308
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Brachycephaly, Wide nasal bridge OMIM:613456
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Pectus carinatum, Knee dis... OMIM:245600
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus... ORPHA:2463
Man1B1-Cdg
Frontal bossing, Wide nose, Flat occiput, Long eyebrows, Prominent nose, Sparse eyebrow, Abnormal... ORPHA:397941
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip disl... OMIM:616507
Spastic Paraplegia 20, Autosomal Recessive
Ulnar deviation of the hand, Lower limb muscle weakness, Kyphoscoliosis, Hypertelorism, Flexion c... OMIM:275900
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Osteopenia, Joint laxity, Arachnodactyly, Highly arched eyebrow, Coxa valga, Elbow dislocation, C... OMIM:620083
Cdags Syndrome
Sparse scalp hair, Frontal bossing, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, ... OMIM:603116
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... OMIM:616229
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Brachycephaly, Clinodactyly of t... OMIM:201000
Filippi Syndrome
Enlarged epiphyses, Wide nose, Finger syndactyly, Frontal bossing, Prominent nasal bridge, Supern... ORPHA:3255
Temple-Baraitser Syndrome
Wide nose, Short distal phalanx of finger, Depressed nasal bridge, Anteverted nares, Hypoplastic ... ORPHA:420561
Acrocallosal Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Hypertelorism, Wide anterior fonta... ORPHA:36
Pfeiffer Syndrome
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal... OMIM:101600
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Wide nasal bridg... ORPHA:2884
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Long n... ORPHA:2636
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Congenital diaphragmatic hernia, Tapered finger, Short neck, Pectus excavatum, Hy... ORPHA:284180
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... OMIM:305400
Bardet-Biedl Syndrome 8
Brachycephaly, Postaxial polydactyly OMIM:615985
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... ORPHA:93311
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Hypertelorism, Pectus excavatum, Overfolded helix, Large fleshy ears,... OMIM:619092
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Depressed nasal bridge, Bowing of the legs, Micrognathia... OMIM:613849
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flat occiput, Overlapping toe, Prominent nasal bridge, Highly arched eyebrow, Tapered finger, Dow... OMIM:617452
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly, Talipes equi... OMIM:616789
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, Synophrys, Brachycephaly, Short nose, Midface retrusion ORPHA:1913
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... OMIM:119100
Fanconi Anemia, Complementation Group I
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Conduc... OMIM:609053
Craniosynostosis 2
Frontal bossing, Bicoronal synostosis, Turricephaly, Craniosynostosis, Brachycephaly, Triphalange... OMIM:604757
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Depressed nasal bridge, Wide nasal bridge OMIM:609528
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn... OMIM:154400
Intellectual Developmental Disorder, Autosomal Recessive 5
Prominent nasal bridge, Underdeveloped nasal alae, Postnatal growth retardation, Prominent nose, ... OMIM:611091
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Stapes ankylosis, Single transverse palmar crease, Highly arched eyebrow, Hypertelori... OMIM:614701
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Broad proximal phalanges of the hand, Choanal atresia, Abnormal hair morphology,... OMIM:607597
2Q23.1 Microdeletion Syndrome
Sandal gap, Highly arched eyebrow, Synophrys, Brachycephaly, Hip dysplasia, Short palm, Clinodact... ORPHA:228402
Three M Syndrome 3
Hyperlordosis, Short neck, Increased vertebral height, Short thorax, Protruding ear, Slender long... OMIM:614205
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Sagittal craniosynostosis, M... ORPHA:2872
Monosomy 18P
Alopecia, Micrognathia, Pectus excavatum, Brachycephaly, Wide nasal bridge, Low posterior hairlin... ORPHA:1598
Gorlin Syndrome
Frontal bossing, Arachnodactyly, Wide nasal bridge, Brachycephaly, Melanocytic nevus, Abnormality... ORPHA:377
Saethre-Chotzen Syndrome
Low anterior hairline, Abnormal form of the vertebral bodies, Hypotelorism, Triphalangeal thumb, ... ORPHA:794
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Al Kaissi Syndrome
Depressed nasal bridge, Broad nasal tip, Postnatal growth retardation, Synophrys, Small hand, Wid... OMIM:617694
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Thoracic hypoplasia,... OMIM:224410
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Single transverse p... OMIM:617425
Crouzon Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Brachycephaly, Hypopigmented skin patches, Melano... ORPHA:207
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Genu recurvatum, Reduced bone mineral density, Slender long bo... ORPHA:1185
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Deeply set eye, Conductive hearing impairment... OMIM:136140
Larsen Syndrome
Finger syndactyly, Brachydactyly, Short nail, Craniosynostosis, Hypertelorism, Cryptorchidism, Ac... ORPHA:503
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly OMIM:603233
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, ... ORPHA:1974
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Conductive hearing impairment, Short phalanx of fi... OMIM:132450
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, ... ORPHA:2163
Mosaic Trisomy 8
Short neck, Micrognathia, Protruding ear, Deeply set eye, Vertebral segmentation defect, Narrow c... ORPHA:96061
Distal Deletion 10P
Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Hearing impairment, Micrognath... ORPHA:1580
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, Protruding e... OMIM:150230
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Hypertelorism, Reduced bone mineral density, Increase... ORPHA:561
Beemer Lethal Malformation Syndrome
Wide nasal bridge OMIM:209970
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Hypoplastic t... ORPHA:459061
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tapered finger, Hypertelorism, Long fingers, Flexion contracture, Low an... OMIM:218000
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Depressed nasal bridge, Sparse eyelashes, Low anterior hairline, Wide nasal bridge,... OMIM:617392
Restrictive Dermopathy 1
Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Hypertelorism, Absen... OMIM:275210
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Pectus excavatum, Abnormal metaphysis morphology, Long fibula, Biparietal narrowing ORPHA:935
Orofaciodigital Syndrome Xv
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... OMIM:617127
Menkes Disease
Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Brachycephaly, Sparse hair, Hypo... OMIM:309400
Osteopathia Striata-Cranial Sclerosis Syndrome
Frontal bossing, Flat occiput, Micrognathia, Facial hyperostosis, Wide nasal bridge, High iliac w... ORPHA:2780
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Broad nasal tip, Synophrys, 2-3 toe syndactyly, Brachycephaly, Talipes equinovar... ORPHA:3306
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Mixed hearing impairment, Long eyebrows, Hypertelorism, Pectus excavatum, Widow... OMIM:201180
Ritscher-Schinzel Syndrome 1
Syndactyly, Depressed nasal bridge, Micrognathia, Missing ribs, Brachycephaly, Low posterior hair... OMIM:220210
Oculodentodigital Dysplasia, Autosomal Recessive
Frontal bossing, Broad long bones, Sparse eyelashes, Fifth finger distal phalanx clinodactyly, Un... OMIM:257850
Gomez-Lopez-Hernandez Syndrome
Alopecia, Turricephaly, Anteverted nares, Craniosynostosis, Wide anterior fontanel, Brachycephaly... OMIM:601853
Cantu Syndrome
Depressed nasal bridge, Anteverted nares, Curly eyelashes, Broad hallux, Short hallux, Coxa valga... OMIM:239850
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Chopra-Amiel-Gordon Syndrome
Postnatal growth retardation, Flared nostrils, Brachycephaly, High anterior hairline, Thick nasal... OMIM:619504
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Neonatal epiphyseal stippling, Flexion contracture, Coarse hair, Abno... ORPHA:35173
Intellectual Developmental Disorder, Autosomal Dominant 65
Turricephaly, Anteverted nares, Micrognathia, Bulbous nose, Synophrys, Wide nasal bridge, Low pos... OMIM:619320
Noonan Syndrome 13
Short neck, Micrognathia, Enlarged thorax, Generalized hirsutism, Joint laxity, Highly arched eye... OMIM:619087
Autosomal Dominant Spondylocostal Dysostosis
Anteverted nares, Missing ribs, Short thorax, Abnormal rib morphology, Wide nasal bridge, Promine... ORPHA:1797
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... ORPHA:3429
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi... ORPHA:2741
Hypertelorism, Microtia, Facial Clefting Syndrome
Micrognathia, Microcephaly, 2-3 toe syndactyly, Abnormality of the vertebral column, Short 5th fi... OMIM:239800
Intellectual Developmental Disorder, Autosomal Dominant 1
Prominent nose, Micrognathia, Depressed nasal ridge, Brachycephaly, Short palm, Clinodactyly of t... OMIM:156200
Pycnodysostosis
Frontal bossing, Brachydactyly, Delayed eruption of primary teeth, Persistence of primary teeth, ... OMIM:265800
Cerebrofaciothoracic Dysplasia
Wide nose, Abnormal hair pattern, Synophrys, Rib fusion, Brachycephaly, Low posterior hairline, S... ORPHA:1394
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Mixed hearing impairment, Short femur, Talipes, Micrognathia, Short neck, Conductive ... OMIM:300990
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Sparse eyelashes, Congenital diaphragmatic hernia, Hypertelorism, Sparse eyebrow,... ORPHA:370079
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Wide nose, Toe syndactyly, Arachnodactyly, Prominent nas... ORPHA:505237
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... OMIM:224300
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal chondrodysp... OMIM:156400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Postaxial polydactyly, Abnormal ... ORPHA:404440
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Clino... OMIM:610759
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Depressed nasal bridge, Wide nasal bridge ORPHA:1522
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Wide nose, Rocker bottom foot, Wide nasal bridge, Prominent occiput, Abnormal ... ORPHA:89844
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Brachycephaly, Long thorax, Absent nas... OMIM:617925
Teebi Hypertelorism Syndrome 2
Syndactyly, Hypertelorism, Wide anterior fontanel, Proptosis, Clinodactyly of the 5th finger, Sho... OMIM:619736
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Thoracic ... OMIM:309620
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Brushfield spots, Depressed nasal ridge... ORPHA:1791
3Mc Syndrome
Abnormal pinna morphology, Diastasis recti, Hearing impairment, Hyperlordosis, Hypertelorism, Hig... ORPHA:293843
3P25.3 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Tapered finger, Prominent ... ORPHA:435638
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Pectus excavatum, Brachycephaly, Plagiocephaly, Dolichocephaly ORPHA:272
Tetrasomy 5P
Overlapping toe, Posteriorly rotated ears, Short hallux, Short neck, Micrognathia, Long fingers, ... ORPHA:3309
Smith-Kingsmore Syndrome
Curly hair, Rhizomelia, Diastasis recti, Hypertelorism, Short proximal phalanx of finger, Wide an... OMIM:616638
Laurence-Moon Syndrome
Finger syndactyly, Hand polydactyly, Brachycephaly, Brachydactyly ORPHA:2377
Chromosome 15Q26-Qter Deletion Syndrome
Micrognathia, Wide nasal bridge, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly OMIM:612626
48,Xxyy Syndrome
Pes planus, Hypergonadotropic hypogonadism, Talipes, Hypertelorism, Elbow dislocation, Cryptorchi... ORPHA:10
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Proximal placement of thumb, Short neck, Micromelia, Micrognathi... OMIM:122470
Hamamy Syndrome
Long toe, Syndactyly, Anteverted nares, Sparse eyelashes, Down-sloping shoulders, Tapered finger,... OMIM:611174
Dysostosis, Stanescu Type
Narrow nasal bridge, Bowing of the long bones, Micromelia, Abnormal nasal morphology, Pectus exca... ORPHA:1798
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Frontal bossing, Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge, Camptodactyly, ... OMIM:613604
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hearing impairmen... ORPHA:1782
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Pes planus, Sacral dimple, Sandal gap, Hearing impairment, Hypertelorism, Highly arched... ORPHA:261279
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Frontal bossing, Depressed nasal bridge, Postaxial hand polydactyly, Wide nasa... OMIM:220220
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... ORPHA:3035
Squalene Synthase Deficiency
Posteriorly rotated ears, Micrognathia, Bilateral cryptorchidism, Elbow flexion contracture, 2-3 ... OMIM:618156
Trisomy 20P
Short neck, Micrognathia, Low anterior hairline, Abnormal form of the vertebral bodies, Protrudin... ORPHA:261318
Acrogeria
Micrognathia, Small hand, Fine hair, Short foot, Joint hyperflexibility, Scoliosis, Irregular hyp... ORPHA:2500
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Toe syndactyly, Broad hallux, Long nose, Congenital stapes ankylosis, Proximal/... OMIM:184460
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger, Short umbilical cord, Thick eyebrow OMIM:618367
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... ORPHA:2496
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Short neck, Micrognathia, Synophrys, Flexion contracture, Deeply set eye, Gen... OMIM:620369
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Hypertelorism, Clinodactyly of the 5th finger... OMIM:244600
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Finger syndactyly, Prominent nasal bridge, Toe syndac... ORPHA:978
Joubert Syndrome 37
Lumbar hyperlordosis, Posteriorly rotated ears, Postaxial polydactyly, Hypertelorism, Cryptorchid... OMIM:619185
Cofs Syndrome
Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia, Abnormal nasal morpho... ORPHA:1466
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion ... OMIM:224690
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... OMIM:271510
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Scapular winging, Depressed nasal bridge, Sandal gap, Tapered finger, Micrognathia... OMIM:617061
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Abnormality of skin pigmentatio... ORPHA:2092
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased vertebral height, ... OMIM:616817
Radio-Renal Syndrome
Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Abnormal rib morphology, Abnormal... ORPHA:3015
Cornelia De Lange Syndrome
Proximal placement of thumb, Short neck, Micromelia, Micrognathia, Congenital diaphragmatic herni... ORPHA:199
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Brachycephaly, Tibial bowing, Pe... ORPHA:175
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Micrognathia, Synophrys, Ragged-red muscle fibers, Deeply set eye, Generalize... OMIM:620351
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Lumbosacral men... OMIM:608022
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Turricephaly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Hi... OMIM:613776
3Mc Syndrome 1
Sacral dimple, Single interphalangeal crease of fifth finger, Diastasis recti, Hypertelorism, Hea... OMIM:257920
Abruzzo-Erickson Syndrome
Radioulnar synostosis, Macrotia, Hearing impairment, Protruding ear OMIM:302905
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Arthrogryposis, Distal, Type 2B1
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Calcaneovalgus de... OMIM:601680
6Q25 Microdeletion Syndrome
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Plagiocephaly, Clin... ORPHA:251056
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Slender nose, Arachnodactyly, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Wide nasal ... ORPHA:562528
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Overlapping toe, Underfolded helix, Posteriorly rotated ears, Hypertelorism, Pectus exc... OMIM:618316
Trisomy 9P
Sacral dimple, Hypoplastic fingernail, Bilateral single transverse palmar creases, Short neck, Hy... ORPHA:236
Gapo Syndrome
Abnormal clavicle morphology, Dysmenorrhea, Micrognathia, Abnormal form of the vertebral bodies, ... ORPHA:2067
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Brachycephaly, Proximal placement of thumb, Dolichocephaly OMIM:615433
Sclerosteosis 1
Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Hypertelorism, 2-3 finger syndacty... OMIM:269500
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Frontal bossing, Alopecia, Brittle hair, Anteverted nares, Wide nasal bridge, Hyperpigmentation o... ORPHA:50812
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Short thorax, Thin ribs, Pectu... OMIM:612921
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Pontocerebellar Hypoplasia Type 10
Long eyelashes, Wide nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae ORPHA:411493
Gorlin-Chaudhry-Moss Syndrome
Low anterior hairline, Brachycephaly, Coronal craniosynostosis, Coarse hair, Abnormal metacarpal ... ORPHA:2095
Marshall Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Micrognathia, Sparse... ORPHA:560
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milest... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milest... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milest... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milest... ORPHA:881
Zimmermann-Laband Syndrome
Micrognathia, Short neck, Large fleshy ears, Overtubulated long bones, Absent fingernail, Hyperte... ORPHA:3473
Contractural Arachnodactyly, Congenital
Osteopenia, Short neck, Micrognathia, Knee flexion contracture, Pectus carinatum, Wrist flexion c... OMIM:121050
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Osteopenia, Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulder... OMIM:212112
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Synophrys, Low anterior hairline, Brachyce... OMIM:213980
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Low anterior hairline, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occ... OMIM:618736
Chromosome 10Q26 Deletion Syndrome
Frontal bossing, Scapular winging, Congenital hip dislocation, Toe syndactyly, Sandal gap, Cranio... OMIM:609625
48,Xxxy Syndrome
Pes planus, Down-sloping shoulders, Short neck, Coxa valga, Elbow dislocation, Hypertelorism, Cry... ORPHA:96263
Shprintzen-Goldberg Syndrome
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ear... ORPHA:2462
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Micrognathia, Short neck, Hypertelorism, Short toe, Flexion co... ORPHA:98791
Warburg Micro Syndrome 1
Overlapping toe, Anteverted nares, Micrognathia, Wide nasal bridge, Facial hypertrichosis, Hypert... OMIM:600118
Tonne-Kalscheuer Syndrome
Prominent nasal bridge, Concave nail, Prominent nose, Micrognathia, Blue irides, Wide nasal bridg... OMIM:300978
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Arachnodactyly, Abnormality of hair texture, Pectus e... ORPHA:96169
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sparse eyelashes, Sandal gap, Highly arched eyebrow, Abnormal hair pattern, Sp... ORPHA:178303
Smith-Magenis Syndrome
Synophrys, Brachycephaly, Wide nasal bridge, Short palm, Midface retrusion, Brachydactyly OMIM:182290
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly ORPHA:2528
Nail-Patella Syndrome
Back pain, Ridged nail, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor mus... OMIM:161200
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Prominent nasal bridge, Proximal placement of thumb, Coxa valga, Postnatal growth ... OMIM:212066
Hogue-Janssen Syndrome 2
Broad hallux, Facial hypotonia, Postaxial polydactyly, Hypertelorism, Pectus excavatum, Abnormal ... OMIM:616362
49,Xxxxy Syndrome
Pes planus, Down-sloping shoulders, Short neck, Coxa valga, Elbow dislocation, Hypertelorism, Shy... ORPHA:96264
Charge Syndrome
Abnormal palmar dermatoglyphics, Micrognathia, Hemivertebrae, Hand monodactyly, Hypoplasia of the... OMIM:214800
Kahrizi Syndrome
Bulbous nose, Thoracic kyphosis, Wide nasal bridge OMIM:612713
Intellectual Developmental Disorder, Autosomal Recessive 45
Anteverted nares, Highly arched eyebrow, Bulbous nose, Synophrys, Wide nasal bridge, Thick eyebrow OMIM:615979
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Lateral humeral condyle... OMIM:164900
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Alopecia, Osteomalacia, Recurrent fractures, Abnormal thora... ORPHA:93160
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Brachydactyly, Kyphoscoliosis, Short neck, Avascular necrosis... ORPHA:2044
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Absent eyebrow, Thin fingernail, Tarsal synostosis, Aplastic clavic... ORPHA:85199
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Osteopenia, Down-sloping shoulders, Coxa valga, Microgna... OMIM:248370
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Abnormal pinna morphology, Proximal placement of thumb, Short neck, Micrognathia, Wid... OMIM:217980
Ring Chromosome 10 Syndrome
Sandal gap, Tapered finger, Pectus excavatum, Micrognathia, Short neck, Hypertelorism, Wide nasal... ORPHA:1438
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Micrognathia, Wide nasal bridge, Depressed nasal tip, Long eyelashes, Br... ORPHA:2863
Mulibrey Nanism
Frontal bossing, Wide nose, Depressed nasal bridge, Absent frontal sinuses, Hypoplastic frontal s... OMIM:253250
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Hypertelorism, Synophrys, Small h... OMIM:618443
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Mic... OMIM:619951
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Hypertelorism, Wide nasal bridge, Sy... ORPHA:710
Oculodentodigital Dysplasia
Abnormal clavicle morphology, Brittle hair, Micrognathia, Abnormal form of the vertebral bodies, ... ORPHA:2710
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Postnatal growth retardation, Low anterior hairline, Bra... OMIM:614225
Brittle Cornea Syndrome
Hallux valgus, Pes planus, Arachnodactyly, Sensorineural hearing impairment, Osteoporosis, Abnorm... ORPHA:90354
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Sandal gap, Micromelia, Postnatal growth retardation, Brachycephaly, Fi... OMIM:614800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Wide nasal bridge, Sho... OMIM:614376
19P13.12 Microdeletion Syndrome
Short neck, Synophrys, Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger,... ORPHA:254346
9P13 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenail... ORPHA:324313
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Short palm, Hypopigmentation of the skin, Iris hypopigmentatio... OMIM:176270
Sialuria
Hypertelorism, Synophrys, Hirsutism, 2-3 toe syndactyly, Generalized hirsutism, Low posterior hai... OMIM:269921
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Short neck, Micrognathia, Low anterior hairline, Coxa vara, ... ORPHA:800
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Hearing impairment, Micrognathia, Hy... ORPHA:264200
3Mc Syndrome 2
Torticollis, Diastasis recti, Limited elbow movement, Partial abdominal muscle agenesis, Hypoplas... OMIM:265050
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fontanel, Irregular menstruation, Tibia... OMIM:616482
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Flat occiput, Anteverted nares, Overlapping toe, Wide nasal bridge, Pectus c... OMIM:619383
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... OMIM:113500
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Depressed nasal bridge, Low anterior hairline, Cranial asymmetry... OMIM:609128
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus, Limb hypertonia OMIM:620306
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Thoracolumbar scoliosis, Overlapping toe, Micrognathia, Metatarsus adductus, Shor... ORPHA:436003
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Enlarged interphalangeal joints, Proximal placement of thumb, Highly arched eyebrow, Abnormality ... ORPHA:2988
Smith-Magenis Syndrome
Frontal bossing, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Synophry... ORPHA:819
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Depressed nasal bridge, Hip dislocation, Brachycephaly, Short nose OMIM:608776
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Hypoplastic toenails, Synophrys, Conductive hearing impairment, Abnormal toenail mo... ORPHA:444077
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Stevenson-Carey Syndrome
Anteverted nares, Underdeveloped nasal alae, Brachycephaly, Hip dysplasia, Camptodactyly, Promine... OMIM:611961
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Anteverted nares, Micrognathia, Metatarsus adductus, Calcaneov... OMIM:616266
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Pectus excavatum, Hip dislocatio... OMIM:219150
Trigonocephaly 1
Craniosynostosis, Synophrys, Wide nasal bridge, Trigonocephaly, Short nose OMIM:190440
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Hypertelorism, Flexion contracture, ... OMIM:312150
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Myelomeningocele, Short clavicles, Broad thumb ORPHA:60015
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Hyperconvex finger... ORPHA:2658
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Wide nose, Congenital hip dislocation, Prominent nose, Synophrys, Broad nail, Tali... OMIM:300280
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Coarse hair, Narrow greater sc... OMIM:253220
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Bulbous nose, Anteverted nares, Wide nasal bridge OMIM:300958
Ritscher-Schinzel Syndrome 4
Curly hair, Ulnar deviation of the hand, Tapered finger, Hypertelorism, Cryptorchidism, Hip dislo... OMIM:619435
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... OMIM:166220
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... ORPHA:363417
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Brunet-Wagner Neurodevelopmental Syndrome
Low anterior hairline, Wide nasal bridge, Thin eyebrow OMIM:619690
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Hypopigmentation of th... ORPHA:2786
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Cryptorchidism, 2-3 toe syndactyly,... OMIM:107480
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial bowing, Hypotel... OMIM:601812
Familial Benign Copper Deficiency
Early balding, Diaphyseal thickening, Wide nasal bridge ORPHA:1551
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Hydranencephaly, Single transverse palmar crease, Short neck, 2-3 toe syndacty... OMIM:236500
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Decreased muscle mass, Hypertel... OMIM:612940
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Synophrys, Deeply set eye, Abnormal vertebral morphology ORPHA:261272
17Q24.2 Microdeletion Syndrome
Otosclerosis, Thick eyebrow, Short neck, Micrognathia, Hypertelorism, Synophrys, Upper limb under... ORPHA:529962
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, ... ORPHA:1225
Vitamin D-Dependent Rickets, Type 2A
Frontal bossing, Bulging epiphyses, Flat occiput, Bowing of the legs, Subperiosteal bone resorpti... OMIM:277440
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Low anterior hairline, Brachycephaly ORPHA:320385
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Frontal bossing, Depressed nasal bridge, Rocker bottom foot, Pectus excavatum, Brachyc... OMIM:612582
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Hyperte... OMIM:231070
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails... ORPHA:235
Hamel Cerebro-Palato-Cardiac Syndrome
Bulbous nose, Arachnodactyly, Wide nasal bridge, Micrognathia ORPHA:93946
Momo Syndrome
Frontal bossing, Hyperconvex nail, Brachycephaly, Wide nasal bridge, Large hands, Short sternum OMIM:157980
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Micrognathia, Wrist swelling, Limitation of joint mobility, Osteolysis, ... ORPHA:2774
Parietal Foramina With Cleidocranial Dysplasia
Microtia, Short clavicles OMIM:168550
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... OMIM:265000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Sensorineural hearing i... OMIM:605432
20Q11.2 Microduplication Syndrome
Depressed nasal bridge, Anteverted nares, Trigonocephaly, Pectus excavatum, Wide nasal bridge, Br... ORPHA:363659
Hallermann-Streiff Syndrome
Micrognathia, Metaphyseal widening, Brachycephaly, Sparse hair, Parietal bossing, Sparse eyebrow,... OMIM:234100
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Sparse eyebrow, Widow's peak, Wide nasal bridge, Dolichocephaly, Clinodac... OMIM:167730
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Depressed nasal bridge, Wide nasal bridge, Pectus carinatum, Broad thumb ORPHA:261295
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, 2-3 toe cutaneous syndactyly, W... OMIM:300260
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Depressed nasal bridge, Wide nasal bridge, Abnormality of the frontal hair... ORPHA:557003
Macrocephaly-Developmental Delay Syndrome
Microretrognathia, Frontal bossing, Craniosynostosis, Scaphocephaly, Wide nasal bridge, Clinodact... ORPHA:397612
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Wide nose, Underdeveloped nasal alae, Abnormal eyelash morphology, Wide nasal ... ORPHA:1252
Apert Syndrome
Delayed epiphyseal ossification, Brachycephaly, Pectus carinatum, Cutaneous finger syndactyly, Ch... OMIM:101200
Cerebrooculonasal Syndrome
Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Brachycephaly, Abnormal nostril mor... ORPHA:66625
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Depressed nasal bridge, Brachycephaly, Micrognathia OMIM:620240
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Low anterior hairline, Brachycephaly OMIM:615031
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Hypertelorism, Thin clavicles, Small hand, Th... ORPHA:93324
Trisomy 18P
Highly arched eyebrow, Underdeveloped nasal alae, Micrognathia, Abnormal finger morphology, Wide ... ORPHA:1715
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Restrictive Dermopathy 2
Microretrognathia, Overtubulated long bones, Short clavicles, Proptosis OMIM:619793
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Tapered finger, Micrognathia, Short neck, Hypertelorism, Synophrys, Wide nasal bridge, Fine hair,... OMIM:620250
Chromosome 2P16.1-P15 Deletion Syndrome
Depressed nasal bridge, Arachnodactyly, Postnatal growth retardation, Metatarsus adductus, Pectus... OMIM:612513
Bresek Syndrome
Alopecia, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Protruding ear, Low-set ears... ORPHA:85284
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Cryptorchidism, Hypopl... ORPHA:3412
Ververi-Brady Syndrome
Hypertelorism, Cupped ear, Low-set ears, Scoliosis, Clinodactyly of the 5th finger, Macrotia, Met... OMIM:617982
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor... ORPHA:2050
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Conductive hearing impairment, Calvarial osteosclerosis, Hypertelorism, Cryptorchid... OMIM:616331
Spastic Paraplegia 47, Autosomal Recessive
Talipes equinovarus, Bulbous nose, Acetabular dysplasia, Wide nasal bridge OMIM:614066
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Pectus excavatum, Long fingers, Clinodactyl... ORPHA:357001
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... OMIM:186570
Teebi-Shaltout Syndrome
Syndactyly, Turricephaly, Ulnar deviation of the hand, Slow-growing hair, Rocker bottom foot, Hig... OMIM:272950
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Wide nose, Depressed nasal bridge, Bulbous nose, Synophrys, Low anterior hairline, Flared metaphy... OMIM:610442
Microphthalmia, Syndromic 12
Neonatal death, Micrognathia, Wide nasal bridge, Broad nasal tip OMIM:615524
Raine Syndrome
Bowing of the long bones, Depressed nasal bridge, Choanal atresia, Highly arched eyebrow, Microme... OMIM:259775
Kbg Syndrome
Single transverse palmar crease, Short neck, Synophrys, Low anterior hairline, Protruding ear, Th... OMIM:148050
Prader-Willi Syndrome Due To Translocation
Short neck, Micrognathia, Hypotelorism, Deeply set eye, Clinodactyly of the 5th finger, Abnormal ... ORPHA:177907
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Bulbous nose, Brachycephaly, Plagiocephaly, Asymmetry of the thorax, Narro... OMIM:618644
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Hypertelorism, Flexion contracture, ... OMIM:253290
Cerebellar Ataxia-Hypogonadism Syndrome
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Brachycephaly, Supernumerary... ORPHA:1173
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Hyp... ORPHA:324964
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Prominent nose, Tapered finger, B... OMIM:300968
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Hypertelorism, Anencepha... ORPHA:1590
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Pectus excavatum of inferior sternum, Depressed nasal bridge, Rocker bottom foot, Tapered finger,... OMIM:601353
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Posteriorly rotated ears, Single tr... OMIM:613385
Opitz-Kaveggia Syndrome
Multiple joint contractures, Single transverse palmar crease, Short neck, Micrognathia, Sparse ha... OMIM:305450
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Tapered finger, Micrognathia, Kyphosis, Hypertelorism, Sensorineural hearing impairme... ORPHA:2479
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Curly eyelashes, Short hallux, Coxa va... ORPHA:1517
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... OMIM:166200
Congenital Disorder Of Glycosylation, Type Id
Depressed nasal bridge, Long fingers, Bulbous nose, Wide nasal bridge, Talipes equinovarus, Nail ... OMIM:601110
Warburg Micro Syndrome 3
Micrognathia, Postnatal growth retardation, Low anterior hairline, Brachycephaly, Clinodactyly of... OMIM:614222
Fanconi Anemia, Complementation Group F
Sacral dimple, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, 2-3 finger sy... OMIM:603467
Hyperphosphatasia-Intellectual Disability Syndrome
Prominent nasal bridge, Highly arched eyebrow, Supernumerary nipple, Micrognathia, Pectus excavat... ORPHA:247262
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Radial deviation of the hand, Anteverted nares, Rocker bottom... OMIM:301041
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Hearing impairment, Short neck, Micrognathia, Kyphosis, Hypertelorism,... OMIM:616894
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Decreased muscle mass, Single transverse palmar crease, ... OMIM:309583
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Hypertelorism, Abnormality of the di... OMIM:601163
Cerebellofaciodental Syndrome
Pes planus, Single transverse palmar crease, Tapered finger, Short neck, Sparse eyebrow, Cryptorc... OMIM:616202
Acromelic Frontonasal Dysplasia
Broad nasal tip, Bifid nasal tip, Brachycephaly, Patellar hypoplasia, Bifid nose, Talipes equinov... ORPHA:1827
Sandestig-Stefanova Syndrome
Laterally extended eyebrow, Rocker bottom foot, Highly arched eyebrow, Wide nasal bridge, Camptod... OMIM:618804
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Microg... ORPHA:2062
Enthesitis-Related Juvenile Idiopathic Arthritis
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... ORPHA:85438
Teebi Hypertelorism Syndrome 1
Frontal bossing, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Sagittal cranio... OMIM:145420
Chromosome 18P Deletion Syndrome
Barrel-shaped chest, Toe syndactyly, Posteriorly rotated ears, Short neck, Micrognathia, Hypertel... OMIM:146390
Histidinuria Due To A Renal Tubular Defect
Hypoplastic toenails, Short middle phalanx of finger, Wide nasal bridge, Rounded middle phalanx o... OMIM:235830
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Hypertelorism, Abnormal hand morphology, Small hand, Premature gr... OMIM:300845
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ... OMIM:610682
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Highly arched eyebrow, Micrognathia, Synophrys, Wide... ORPHA:3253
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Congenital diaphragmatic hernia, Hypertelorism, Pectus excavatum, Sparse eyebrow, Sup... OMIM:612530
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Synophrys, Low anterior hairline, Protrudi... OMIM:613458
Orofaciodigital Syndrome Iii
Hyperconvex nail, Hypertelorism, Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxia... OMIM:258850
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Short thumb, Sensorineural hearing impairment, 2-3 toe syndactyly, Broad p... ORPHA:2712
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Talipes equinovarus OMIM:619972
Radio-Tartaglia Syndrome
Frontal bossing, Thick eyebrow, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge,... OMIM:619312
Chromosome 9P Deletion Syndrome
Long toe, Narrow nail, Depressed nasal bridge, Anteverted nares, Choanal atresia, Highly arched e... OMIM:158170
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Pectus excavatum, Brachycephaly OMIM:618603
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Frontal bossing, Arachnodactyly, Prominent nasal bridge, Anteverted nares, Micro... ORPHA:371364
Histidinuria-Renal Tubular Defect Syndrome
Hypoplastic toenails, Short middle phalanx of finger, Wide nasal bridge, Rounded middle phalanx o... ORPHA:2158
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Micrognathia, Bulbous nose, Wide nasal bridge, Sparse hair, Hypopigmentation of the skin, Aplasia... ORPHA:261304
Acromelic Frontonasal Dysostosis
Syndactyly, Broad nasal tip, Bifid nasal tip, Parietal foramina, Preaxial polydactyly, Wide nasal... OMIM:603671
Trisomy 12P
Supernumerary nipple, Hypertelorism, Micrognathia, Short neck, Wide nasal bridge, Abnormal antihe... ORPHA:1699
Orofaciodigital Syndrome Xix
Frontal bossing, Toe syndactyly, Broad hallux, Type A brachydactyly, Underdeveloped nasal alae, B... OMIM:620107
Brittle Cornea Syndrome 1
Joint laxity, Congenital hip dislocation, Red hair, Scoliosis, Palmoplantar cutis laxa, Spondylol... OMIM:229200
Lissencephaly 4
Wide nasal bridge OMIM:614019
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, ... ORPHA:401973
Noonan Syndrome 6
Curly hair, Depressed nasal bridge, Long eyebrows, Pectus excavatum, Wide nasal bridge, Low poste... OMIM:613224
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn... ORPHA:1506
Congenital Disorder Of Deglycosylation 2
Sacral dimple, Ulnar deviation of the hand, Genu recurvatum, Sandal gap, Highly arched eyebrow, M... OMIM:619775
Baraitser-Winter Syndrome 1
Anteverted nares, Highly arched eyebrow, Postnatal growth retardation, Duplication of phalanx of ... OMIM:243310
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Choanal atresia, Tapered finger, Micrognathia, Short thumb, Wide nasal bridge, B... OMIM:619148
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Aplasia of the phalanges of the 3rd toe, Wide nasal bridge ORPHA:2229
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Brachycephaly... OMIM:606851
Alazami Syndrome
Sparse eyebrow, Slender long bone, Deeply set eye, Low-set ears, Scoliosis ORPHA:319671
Craniolenticulosutural Dysplasia
Osteopenia, Pes planus, Joint laxity, Brittle hair, Hypertelorism, Wide anterior fontanel, Poster... OMIM:607812
20Q13.33 Microdeletion Syndrome
Hallux valgus, Pes planus, Sacral dimple, Low-set, posteriorly rotated ears, Facial hypotonia, Hi... ORPHA:261311
Ventriculomegaly With Defects Of The Radius And Kidney
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb OMIM:602200
Pontocerebellar Hypoplasia, Type 3
Depressed nasal bridge, Brachycephaly OMIM:608027
Trichorhinophalangeal Syndrome Type 2
Sparse scalp hair, Avascular necrosis of the capital femoral epiphysis, Bulbous nose, Wide nasal ... ORPHA:502
Noonan Syndrome 14
Pes planus, Scapular winging, Curly hair, Posteriorly rotated ears, Short neck, Pectus excavatum,... OMIM:619745
Kenny-Caffey Syndrome, Type 1
Long clavicles, Hypertelorism, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo... OMIM:244460
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Camptodactyly, Neonatal ... OMIM:610015
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short neck, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication of... OMIM:105650
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, ... ORPHA:398079
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Robinow-Sorauf Syndrome
Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Plagiocephaly, Pansynostosis, Duplicati... OMIM:180750
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Hypogonadotropic hypogonadism, Hypertelorism, Joint stiffness, Synophrys, Hypopigm... ORPHA:1295
Oculocerebrocutaneous Syndrome
Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Talipes,... ORPHA:1647
Spinocerebellar Ataxia 47
Clinodactyly, Small hand, Wide nasal bridge, Tapered finger OMIM:617931
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Posteriorly rotated ears, Pectus excavatum, Long nose, Slender long bone, Deeply set ... OMIM:618590
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Abnormality ... ORPHA:93473
Autosomal Recessive Robinow Syndrome
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... ORPHA:1507
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, Conductive hearing impai... OMIM:102500
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Synophrys, Anosmia, Wide nasal bridge, Cutaneous finger syndactyly, Thick eyebrow OMIM:210745
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus OMIM:222748
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla... OMIM:252940
Cohen-Gibson Syndrome
Osteopenia, Flexion contracture, Long ear, Hypoplastic iliac wing, Joint laxity, Thin nail, Hyper... OMIM:617561
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Depressed nasal bridge, Anteverted nares, Low anterior hairline, Brachycephaly, Hor... OMIM:618797
X Small Rings
Joint laxity, Toe syndactyly, Premature ovarian insufficiency, Tapered finger, Short neck, Hypert... ORPHA:96201
Zaki Syndrome
Sparse scalp hair, Wide nose, Toe syndactyly, Anteverted nares, Micrognathia, Hypoplastic toenail... OMIM:619648
Saethre-Chotzen Syndrome
Long nose, Low anterior hairline, Brachycephaly, Partial duplication of the distal phalanx of the... OMIM:101400
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Posteriorly rotated ears, Micrognathia, Hypertelori... OMIM:300895
Intellectual Developmental Disorder, Autosomal Recessive 13
Slender finger, Synophrys, Wide nasal bridge OMIM:613192
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hypoplastic ischia, Micrognat... ORPHA:1865
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... ORPHA:397715
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Metatarsus adductus... OMIM:227330
Hallermann-Streiff Syndrome
Frontal bossing, Alopecia, Sparse eyelashes, Choanal atresia, Underdeveloped nasal alae, Sparse e... ORPHA:2108
Nablus Mask-Like Facial Syndrome
Single transverse palmar crease, Short neck, Low anterior hairline, Sparse hair, Small earlobe, S... OMIM:608156
Mohr Syndrome
Syndactyly, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly... OMIM:252100
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Spina bifida, Hypertelorism, Aplasia/Hypoplasia of the earlobe... ORPHA:1104
Braddock-Carey Syndrome 1
Curly hair, Anteverted nares, Small hand, Wide nasal bridge, Talipes equinovarus, Camptodactyly, ... OMIM:619980
Fanconi Anemia, Complementation Group W
Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb OMIM:617784
Autism Spectrum Disorder Due To Auts2 Deficiency
Anteverted nares, Highly arched eyebrow, Micrognathia, Wide nasal bridge, Joint contracture of th... ORPHA:352490
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Distal Duplication 17Q
Hallux valgus, Low-set, posteriorly rotated ears, Joint laxity, Overlapping toe, Arachnodactyly, ... ORPHA:3379
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling OMIM:614859
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Low-set ears, Limb und... OMIM:225410
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs,... OMIM:139210
Craniosynostosis And Dental Anomalies
Flat occiput, Clinodactyly, Brachycephaly, Short phalanx of finger, Depressed nasal bridge, Broad... OMIM:614188
Lessel-Kreienkamp Syndrome
Frontal bossing, Scaphocephaly, Wide nasal bridge, Plagiocephaly, Clinodactyly of the 5th finger OMIM:619149
Mosaic Trisomy 16
Syndactyly, Profuse pigmented skin lesions, Single transverse palmar crease, Short thumb, Abnorma... ORPHA:1708
Fanconi Anemia, Complementation Group P
Micrognathia, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, Vitiligo, Cafe... OMIM:613951
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Pallister-Hall Syndrome
Hemivertebrae, Paroxysmal bursts of laughter, Microretrognathia, Mesoaxial polydactyly, Low-set, ... ORPHA:672
Robinow Syndrome, Autosomal Dominant 1
Short neck, Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... OMIM:180700
Mandibuloacral Dysplasia
Alopecia, Micrognathia, Abnormality of skin pigmentation, Contractures of the large joints, Osteo... ORPHA:2457
2P15P16.1 Microdeletion Syndrome
Sandal gap, Prominent nasal bridge, Supernumerary nipple, Tapered finger, Sparse eyebrow, Metatar... ORPHA:261349
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge... OMIM:614749
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Mixed hearing impairment, Broad hallux, Hypertelorism, Absent radius, Sho... OMIM:149730
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Micrognathia, Premature graying of hair, Short palm, Sparse hair, Abs... OMIM:268400
Noonan Syndrome
Micrognathia, Pectus carinatum, Enlarged thorax, Coarse hair, Thickened helices, Clinodactyly of ... ORPHA:648
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Stillbirth, Abnormality of the vertebral column, Abnormal vertebr... OMIM:276950
Ayme-Gripp Syndrome
Sparse scalp hair, Depressed nasal bridge, Tapered finger, Pectus excavatum, Wide nasal bridge, B... OMIM:601088
Distal Deletion 9P
Low-set, posteriorly rotated ears, Hypertelorism, Short neck, Aplasia/Hypoplasia of the earlobes,... ORPHA:1642
Trisomy 8Q
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Hypertelori... ORPHA:1752
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Kyphosis, Postaxial hand polydactyl... ORPHA:2075
Perlman Syndrome
Anteverted nares, Micrognathia, Wide nasal bridge, Dolichocephaly, Short nose ORPHA:2849
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Coxa vara, Sparse hair, Microretrognathia, Scapular wingi... OMIM:278250
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Brachycephaly, Abnormal shape of the occiput, Brachyturricephaly, Midface retrusion OMIM:218350
Lig4 Syndrome
Prominent nose, Low anterior hairline, Brachycephaly, Wide nasal bridge, Clinodactyly of the 5th ... OMIM:606593
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, S... OMIM:602535
Momo Syndrome
Frontal bossing, Hyperconvex nail, Brachycephaly, Femoral bowing, Large hands, Short sternum, Con... ORPHA:2563
Warburg Micro Syndrome 4
Anteverted nares, Prominent nasal bridge, Low anterior hairline, Brachycephaly, Severe postnatal ... OMIM:615663
Intellectual Developmental Disorder, Autosomal Dominant 51
Long toe, Low hanging columella, Wide nasal bridge, Talipes equinovarus, Wide nasal base, Sparse ... OMIM:617788
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Knee osteoarthritis, Osteoporosis,... ORPHA:2848
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, Micrognathia,... ORPHA:1834
14Q11.2 Microduplication Syndrome
Depressed nasal bridge, Wide nasal bridge, Highly arched eyebrow, Micrognathia ORPHA:261229
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Frontal bossing, Depressed nasal bridge, Clinodactyly, Wide nasal bridge, Pectus carinatum, Talip... ORPHA:397709
Eiken Syndrome
Broad femoral neck, Hypertelorism, Delayed epiphyseal ossification, Long thumb, Flat acetabular r... OMIM:600002
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Pes planus, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial... ORPHA:476126
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ... OMIM:618356
Williams-Beuren Region Duplication Syndrome
Micrognathia, Broad nasal tip, Brachycephaly, Long eyelashes, Horizontal eyebrow OMIM:609757
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hypoplastic toenails, Knee flexion contracture, Pectus carinatum, Clinodactyly of the 5th finger,... ORPHA:488642
Rhyns Syndrome
Osteopenia, Radial bowing, Sensorineural hearing impairment, Osteoporosis, Deeply set eye, Short ... OMIM:602152
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Frontal bossing, Depressed nasal bridge, Supernumerary nipple, Sparse eyebrow, Bulbous nose, Syno... OMIM:620098
3Mc Syndrome 3
Sacral dimple, Abnormal pinna morphology, Diastasis recti, Highly arched eyebrow, Hypertelorism, ... OMIM:248340
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Short metacarpal, Toe syndactyly, Microtia, third degree, Hypoplastic fingernail,... OMIM:200110
Meier-Gorlin Syndrome 7
Bowing of the legs, Vertebral segmentation defect, Dislocated radial head, 2-4 finger syndactyly,... OMIM:617063
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Brachycephaly ORPHA:70472
Orofaciodigital Syndrome Type 3
Hypertelorism, Pectus excavatum, Abnormality of hair texture, Postaxial hand polydactyly, Postaxi... ORPHA:2752
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Split hand, Wide nasal bridge OMIM:610127
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Depressed nasal bridge, Brachycephaly, Hypertrichosis OMIM:612379
Marbach-Rustad Progeroid Syndrome
Femur fracture, Micrognathia, Reduced bone mineral density, Proptosis, Short clavicles, Shallow o... OMIM:619322
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Sparse eyelashes, Overlapping toe, Underdeveloped nasal alae, Postnatal growth ... OMIM:613026
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Anteverted nares, Wide anterior fontanel, Wide nasal bridge,... ORPHA:44
Trichohepatoneurodevelopmental Syndrome
Synophrys, Brachycephaly, Coarse hair, Narrow chest, Bilateral coxa valga, Clinodactyly of the 5t... OMIM:618268
Trichohepatoenteric Syndrome 2
Brittle hair, Depressed nasal bridge, Wide nasal bridge, Uncombable hair, Sparse hair, Woolly hai... OMIM:614602
Mandibuloacral Dysplasia Progeroid Syndrome
Frontal bossing, Depressed nasal bridge, Sandal gap, Narrow nasal ridge, Underdeveloped nasal ala... OMIM:619127
Donnai-Barrow Syndrome
Posteriorly rotated ears, Congenital diaphragmatic hernia, Hypertelorism, Wide anterior fontanel,... OMIM:222448
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... ORPHA:464329
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Generalized joint lax... ORPHA:93357
Fanconi Anemia, Complementation Group B
Death in infancy, Hypergonadotropic hypogonadism, Absent thumb, Short neck, Bilateral radial apla... OMIM:300514
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Micrognathia, Symphalangism affecting the phalanges of the hand, Vertebr... ORPHA:2990
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Choanal atresia, Missing ribs, Abnormal rib morphology, Wide nasal bridge, Clinod... ORPHA:2759
Intellectual Developmental Disorder, Autosomal Dominant 43
Anteverted nares, Prominent nasal bridge, Tapered finger, Synophrys, Wide nasal bridge, Hip dyspl... OMIM:616977
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Deviation... ORPHA:2412
Scarf Syndrome
Barrel-shaped chest, Prominent nasal bridge, Low anterior hairline, Wide nasal bridge, Low poster... OMIM:312830
Insulin-Like Growth Factor I, Resistance To
Sparse scalp hair, Sandal gap, Highly arched eyebrow, Micrognathia, Pectus excavatum, Synophrys, ... OMIM:270450
Cerebrooculonasal Syndrome
Frontal bossing, Anteverted nares, Prominent nasal bridge, Proboscis, Sparse eyelashes, Postnatal... OMIM:605627
Richieri-Costa/Guion-Almeida Syndrome
Pectus excavatum, Spina bifida occulta, Abnormal digit morphology, Brachycephaly OMIM:268850
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Cervical kyphosis, Decreased palmar creases, Generalized joint laxity, Pro... ORPHA:2953
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Hypertelorism, Cryptorchidism, Wide nasal bridge, Protruding ear, Genu valgum, Low posterior hair... ORPHA:1778
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius ORPHA:1765
Suleiman-El-Hattab Syndrome
Microretrognathia, Thick eyebrow, Highly arched eyebrow, Synophrys, Clinodactyly, Wide nasal brid... OMIM:618950
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Shallow orbits, Broad ribs... ORPHA:798
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Low anterior hairline, P... ORPHA:955
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo... ORPHA:666
Xq28 (MECP2) duplication
Depressed nasal bridge, Brachycephaly DECIPHER:45
Wrinkly Skin Syndrome
Osteopenia, Pes planus, Decreased muscle mass, Congenital hip dislocation, Kyphoscoliosis, Hypert... ORPHA:2834
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Frontal bossing, Anteverted nares, Highly arched eyebrow, Supernumerary nipple, Hypoplastic toena... OMIM:616728
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... OMIM:163400
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Prolidase Deficiency
Abnormality of retinal pigmentation, Arachnodactyly, Abnormal fingernail morphology, Hearing impa... ORPHA:742
3C Syndrome
Finger syndactyly, Brachydactyly, Frontal bossing, Depressed nasal bridge, Micrognathia, Postnata... ORPHA:7
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Choan... ORPHA:87
Genitopatellar Syndrome
Hip contracture, Sparse scalp hair, Micrognathia, Hypoplastic ilia, Hypertelorism, Cryptorchidism... ORPHA:85201
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Short neck, Knee flexion contracture, Hypertelorism, Prominent crus of helix, C... OMIM:619194
Bainbridge-Ropers Syndrome
Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Cho... OMIM:615485
Autosomal Dominant Robinow Syndrome
Micromelia, Short neck, Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Coxa ... ORPHA:3107
Fucosidosis
Cervical platyspondyly, Barrel-shaped chest, Absent/hypoplastic paranasal sinuses, Lumbar hyperlo... OMIM:230000
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, ... ORPHA:398069
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Highly arc... ORPHA:783
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Sparse eyebrow, Wide nasal bridge, Clinod... OMIM:249620
Down Syndrome
Depressed nasal bridge, Sandal gap, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th... ORPHA:870
Mosaic Trisomy 1
Long toe, Broad toe, Frontal bossing, Toe syndactyly, Depressed nasal bridge, Hypoplastic thumbna... ORPHA:1692
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Joint stiffness, E... ORPHA:584
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Recurrent fractures, Hypertelorism, Pectus excavatum, Kyphosis, Th... OMIM:616294
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Hypertelorism, Kyphosis, Cryptorchidism, Hypotelorism, Protruding ear, Aplasia/Hypo... OMIM:619123
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Shallow orbits, Clinodactyly of the 5th finger, Tapered finger, ... ORPHA:1272
Diamond-Blackfan Anemia 21
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... OMIM:620072
Distal Deletion 6P
Micrognathia, Hypertelorism, Short foot, Vertebral segmentation defect, Abnormal epiphysis morpho... ORPHA:96125
Cog1-Cdg
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Rhizomelia, Kyph... ORPHA:263508
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... ORPHA:280
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro... ORPHA:352540
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Talipes, Kyphoscoliosis, Micrognathia, Severe generalized osteoporosis, Hypoplas... OMIM:210730
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Craniosynostosis, Sensorineural hea... ORPHA:261197
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, ... ORPHA:98754
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C... OMIM:151050
Frontorhiny
Low-set, posteriorly rotated ears, Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, ... ORPHA:391474
Carpenter Syndrome 2
Low anterior hairline, Preaxial polydactyly, Coxa vara, Brachycephaly, Pectus carinatum, Cutaneou... OMIM:614976
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Frontal bossing, Overlapping toe, Pectus excavatum, Bulbous nose, Wide nasal b... OMIM:618571
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Frontal balding, Short neck, Micrognathia, Long fingers, Pectus excava... ORPHA:96092
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Brachycephaly OMIM:309541
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Hyperteloris... ORPHA:93259
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Prominent nose, Low anterior hairline, Hirsutism, Brachycephaly, Woolly ha... OMIM:619244
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hyperconvex nail, Highly arched eyebrow, Broad nasal tip, Tapered finger, Short toe, Wide nasal b... OMIM:239300
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose, Low posterior hairline OMIM:611936
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal ORPHA:66518
Alazami Syndrome
Wide nose, Depressed nasal bridge, Wide nasal bridge OMIM:615071
Koolen-De Vries Syndrome
Anteverted ears, Positional foot deformity, Hypotelorism, Prominent fingertip pads, Iris hypopigm... OMIM:610443
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges o... OMIM:619269
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo... OMIM:269150
Chand Syndrome
Curly hair, Short fifth metatarsal, Nail dysplasia, Hypertelorism ORPHA:1401
Endocrine-Cerebroosteodysplasia
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Mi... OMIM:612651
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Kinsship Syndrome
Osteopenia, Pes planus, Sacral dimple, Death in infancy, Single transverse palmar crease, Short n... OMIM:619297
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, ... ORPHA:98793
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Synophrys, Hirsutism, Broad nail, Wide nasal bridge, Thick eyebrow, Short distal phalanx of finger ORPHA:1970
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Brachycephaly, Supernumerary nipple OMIM:616083
Ermine Phenotype
Hypopigmentation of hair, Toe syndactyly, Abnormality of the nose, Ocular albinism, Hypopigmented... ORPHA:999
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Wide nasal bridge, Prominent nose ORPHA:137831
Intellectual Developmental Disorder, Autosomal Recessive 68
Synophrys, Wide nasal bridge, Broad eyebrow OMIM:618302
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Conductive hearing impairment, Cl... OMIM:300373
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Absent nipple, Hypertelorism, Pectus excavatum, Hemiverte... OMIM:104350
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Brachycephaly, Osteolysi... ORPHA:371428
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Sparse eyelashes, Rocker bottom foot, Tapered finger, Sparse eyebrow, Micrognathia, Wide nasal br... OMIM:620070
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, ... ORPHA:177904
Mulibrey Nanism
Wide nasal bridge ORPHA:2576
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Unilateral ... OMIM:617247
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, ... ORPHA:177901
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hypertelorism, Cupped ear, Low-set ears, Campt... OMIM:614846
49,Xxxyy Syndrome
Micrognathia, Recurrent upper respiratory tract infections, Wide nasal bridge, Finger clinodactyl... ORPHA:261534
Multiple Synostoses Syndrome 4
Pes planus, Otosclerosis, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly OMIM:617898
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Underdeveloped nasal alae, Synophrys, Blue irid... OMIM:193500
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... OMIM:609465
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Prominent nasal bridge, Highly arched eyebrow, Bulbous nose, Wide nasal bridge, Low p... OMIM:617360
Geleophysic Dysplasia 2
Ovoid vertebral bodies, Hypertelorism, Joint stiffness, Limitation of joint mobility, Cone-shaped... OMIM:614185
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Hypoplastic toenails, Bulbous nose, Low anterior hairline, Wide nasal bridge, S... OMIM:220500
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Thick eyebrow, Abnormal pinna morphology, Sternocleidomastoid amyotrophy, Short neck,... ORPHA:488434
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip OMIM:615716
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger OMIM:208060
Say-Barber-Miller Syndrome
Micrognathia, Patellar hypoplasia, Knee flexion contracture, Protruding ear, Deeply set eye, Ulna... ORPHA:3132
9Q33.3Q34.11 Microdeletion Syndrome
Wide nose, Epistaxis, Abnormal hair pattern, Highly arched eyebrow, Bulbous nose, Patellar aplasi... ORPHA:495818
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Congenital Disorder Of Glycosylation, Type Iit
Sandal gap, Prominent nasal bridge, Small hand, Brachycephaly, Short foot OMIM:618885
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Brachycephaly, Pect... OMIM:263520
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Conductive hearing impairment, S... OMIM:235510
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas... ORPHA:3440
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Thin nail, Highly arched eyebrow, Prox... ORPHA:261112
Benign Samaritan Congenital Myopathy
Wide nasal bridge, Dolichocephaly ORPHA:324581
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Micrognathia, Pectus excavatum, Long fingers, Brachycephaly, Hypoplastic ... OMIM:156610
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Aica-Ribosuria Due To Atic Deficiency
Frontal bossing, Brachycephaly, Anteverted nares, Prominent nasal bridge OMIM:608688
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Absent frontal si... OMIM:301040
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypertelorism, Hand polyda... OMIM:258860
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... OMIM:617088
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Short neck, Micrognathia, Congenital contracture, Gener... OMIM:208150
Simosa Craniofacial Syndrome
Highly arched eyebrow, Underdeveloped nasal alae, Long nose, Sparse eyebrow, Abnormal hair morpho... OMIM:182150
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Hypertelorism, Increased intervertebral space, Broad isc... OMIM:619727
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Thin ribs, Plagiocephaly, Slender long bone, Decreased calvarial ... OMIM:618265
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, High anterior hairline, Brachycephaly OMIM:618862
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hyperpigmentation of the skin, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent e... OMIM:106260
Waardenburg Syndrome Type 3
Camptodactyly of finger, Hearing impairment, Joint stiffness, White hair, Abnormal finger morphol... ORPHA:896
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Hypertelorism, Polydacty... ORPHA:59315
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Micrognathia, Hy... OMIM:616038
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Flat occiput, Preaxial hand polydactyly, Depressed nasal... ORPHA:2211
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Pectus excavatum, Brachycep... ORPHA:2673
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Sparse scalp hair, Sparse eyelashes, Arachnodactyly, Sparse eyebrow, Wide nasal bridge,... ORPHA:75496
Pyruvate Dehydrogenase Deficiency
Frontal bossing, Pectus excavatum, Osteolytic defects of the middle phalanx of the 4th toe, Wide ... ORPHA:765
Alg9-Cdg
Short neck, Micrognathia, Large fleshy ears, Narrow greater sciatic notch, Shallow orbits, Abnorm... ORPHA:79328
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Postnatal growth retardation, ... OMIM:257300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Unicoronal synosto... OMIM:616300
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Craniosynostosis, Brachycephaly, Choanal stenosis, Trigonocephaly, Short nose, ... ORPHA:1790
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hip dislocation, Brachycephaly, Coxa valga OMIM:109120
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of hair, Cryptorchidism, Small hand, Osteoporosis, Primary amenorrhe... ORPHA:739
Meier-Gorlin Syndrome 3
Micrognathia, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum, Microretrognathia, Absent... OMIM:613803
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Hypopigmented skin patc... ORPHA:2637
Chops Syndrome
Curly hair, Thick hair, Hearing impairment, Hypertelorism, Tracheomalacia, Cryptorchidism, Synoph... OMIM:616368
Crouzon Syndrome
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... OMIM:123500
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... OMIM:192350
Intellectual Developmental Disorder, Autosomal Dominant 61
Synophrys, Wide nasal bridge, Prominent nasal bridge OMIM:618009
Kleefstra Syndrome 1
Anteverted nares, Synophrys, Brachycephaly, Talipes equinovarus, Midface retrusion, Brachydactyly OMIM:610253
Lacrimoauriculodentodigital Syndrome
Micrognathia, Conductive hearing impairment, Abnormal digit morphology, Syndactyly, Finger syndac... ORPHA:2363
Bohring-Opitz Syndrome
Syndactyly, Depressed nasal bridge, Anteverted nares, Thick hair, Supernumerary nipple, Tapered f... OMIM:605039
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly ORPHA:93950
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Bilateral talipes equinovarus, Wide nasal bridge OMIM:616521
Craniolenticulosutural Dysplasia
Pes planus, Brittle hair, Hypertelorism, Posterior wedging of vertebral bodies, High iliac wing, ... ORPHA:50814
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Hypotelorism, Protruding ear, Deeply ... OMIM:309590
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Vertebral segmentation d... ORPHA:373
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Low anterior hairline, Wide nasa... ORPHA:1449
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Pyruvate Dehydrogenase E1-Alpha Deficiency
Frontal bossing, Flared nostrils, Anteverted nares, Wide nasal bridge OMIM:312170
Autosomal Recessive Spastic Paraplegia Type 23
Kyphoscoliosis, Silver-gray hair, Hip dislocation, Multiple lentigines, Vitiligo ORPHA:101003
Loeys-Dietz Syndrome 5
Scapular winging, Arachnodactyly, Prominent nasal bridge, Dolichocephaly, Pectus excavatum, Brach... OMIM:615582
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Rhizomelia, Tapered finger, Postnatal growth retardation, Pectus ... ORPHA:319182
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Sensorineural hearing impairment, Hydrocele testis, Radioulnar synostosis, Short middle phalanx o... OMIM:616738
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Sparse scalp hair, Finger syndactyly, Wide nasal bridge ORPHA:66629
Oculocerebrofacial Syndrome, Kaufman Type
Absent eyebrow, Flat occiput, Arachnodactyly, Micrognathia, Brachycephaly, Thin eyebrow ORPHA:2707
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Rocker bottom foot,... OMIM:193700
Verheij Syndrome
Anteverted nares, Broad nasal tip, Hip dislocation, Wide nasal bridge, Short 5th finger, Clinodac... OMIM:615583
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Micrognathia, Long fingers, Bulb... OMIM:619512
Dahlberg-Borer-Newcomer Syndrome
Short distal phalanx of finger, Wide nasal bridge, Anonychia, Generalized hirsutism, Brachydactyly ORPHA:1563
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Arachnodactyly, Sandal gap, Long nose, Wide nasal bridge, Hip dysplasia, Talipes equinovarus, Cam... OMIM:617146
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Single transverse palmar crease, Micrognathia, Abnormal form of the verteb... OMIM:194190
Deafness-Craniofacial Syndrome
Frontal bossing, Wide nasal bridge, Temporal hypotrichosis, Underdeveloped nasal alae ORPHA:3241
Noonan Syndrome With Multiple Lentigines
Scapular winging, Pectus excavatum, Wide nasal bridge, Brachycephaly, Melanocytic nevus, Pectus c... ORPHA:500
Adnp Syndrome
Sparse scalp hair, Depressed nasal bridge, Broad hallux, Sandal gap, Abnormal toe morphology, Rec... ORPHA:404448
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Supernumerary nipple, Tapered finger, Hypertelorism, Abnormal thorax mor... ORPHA:1236
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Broad skull, Brachycephaly, Broad phalanges of the hand, Broad ribs, Broa... OMIM:277600
Chime Syndrome
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Depressed nasal ridge, Hip di... ORPHA:3474
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Micrognathia, Wide nasal bridge, 2-3 toe syndactyly, Hypoplastic nasal tip, Clubbing of toes, Clu... ORPHA:3304
Intellectual Developmental Disorder With Autism And Macrocephaly
Wide nose, Wide nasal bridge OMIM:615032
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Micrognathia, ... OMIM:616503
Joubert Syndrome 28
Pigmentary retinopathy, Wide nasal bridge, Highly arched eyebrow OMIM:617121
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Micrognathia, Sparse eyebro... OMIM:244450
Lymphedema-Hypoparathyroidism Syndrome
Brachydactyly, Wide nasal bridge, Hypertrichosis OMIM:247410
Marden-Walker Syndrome
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Talipes, Micrognathia, Metatars... ORPHA:2461
Primrose Syndrome
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... OMIM:259050
Turnpenny-Fry Syndrome
Sparse scalp hair, Frontal bossing, Thoracic kyphoscoliosis, Overlapping toe, Tapered finger, Pec... OMIM:618371
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Hypoplastic toenails, Bifid thoraci... ORPHA:268249
Robinow Syndrome
Micrognathia, Hemivertebrae, Fused thoracic vertebrae, Syndactyly, Hypertelorism, Cryptorchidism,... ORPHA:97360
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Single transverse palmar crease, Tapered finger, Micrognathia, Short neck... ORPHA:444072
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Anteverted nares, Micrognathia, Sparse eyebrow, Wide nasal bridge, Neonatal death OMIM:618810
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Pectus carinatum, Short ... OMIM:616430
Heart And Brain Malformation Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wide anterior fontanel, Wide n... OMIM:616920
Limb Body Wall Complex
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2369
Myoclonic-Astatic Epilepsy
Syndactyly, Anteverted nares, Frontal balding, Wide nasal bridge, Thick nasal alae ORPHA:1942
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Hypertelorism, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti... OMIM:119800
Mucopolysaccharidosis-Plus Syndrome
Wide nose, Pectus excavatum, Synophrys, Metaphyseal widening, Low anterior hairline, Wide nasal b... OMIM:617303
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Highly arched eyebrow, Pectus excavatum, Widow's peak,... ORPHA:1519
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Camptodactyly of finger, Hype... ORPHA:2008
Lissencephaly, X-Linked, 2
Wide anterior fontanel, Prominent nasal bridge, Wide nasal bridge, Micrognathia OMIM:300215
Fontaine Progeroid Syndrome
Micrognathia, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hairline, Coa... OMIM:612289
Short Syndrome
Alopecia, Wide nasal bridge, Short palm, Sparse hair, Midface retrusion, Brachydactyly ORPHA:3163
White-Sutton Syndrome
Depressed nasal bridge, Broad nasal tip, Micrognathia, Brachycephaly, Hypoplastic cervical verteb... OMIM:616364
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Congenital hip dislocation, Mild postnatal growth retardation, Ulnar deviation of the 3rd finger,... ORPHA:456312
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Hypertelorism, Radial club hand, Proptosis, Low-set ears, Cycl... ORPHA:2165
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Neonatal death, Absent fingernail, ... OMIM:609638
Congenital Neuronal Ceroid Lipofuscinosis
Split hand, Wide nasal bridge ORPHA:168486
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Synophrys, Pectus carinatum, Thickened helices, Small earlobe, Long toe, A... ORPHA:3063
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Flexion... OMIM:227645
Okur-Chung Neurodevelopmental Syndrome
Broad hallux, Single transverse palmar crease, Highly arched eyebrow, Micrognathia, Hypertelorism... OMIM:617062
Neuhauser Syndrome
Frontal bossing, Arachnodactyly, Depressed nasal bridge, Micrognathia, Low anterior hairline, Wid... OMIM:249310
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Wide nasal bridge, C... OMIM:615560
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Aplastic clavicle, Mic... ORPHA:2554
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Kyphosis, Cryptorchid... ORPHA:1724
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Frontal bossing, Turricephaly, Tapered finger, Wide nasal bridge, Plagiocephal... OMIM:613603
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Short neck, Micromelia, Congenital diaphragmatic hernia... OMIM:616546
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Talipes, Postax... OMIM:619879
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the cervical spine, Abnormal metacarpophalangeal joint morphology, Ankle swelling,... ORPHA:85408
Doors Syndrome
Low anterior hairline, Abnormal finger morphology, Brachycephaly, Absent fingernail, Triphalangea... ORPHA:79500
Oculoskeletodental Syndrome
Low anterior hairline, Wide nasal bridge, Low posterior hairline, Abnormal sternum morphology, Th... OMIM:618440
Relapsing Polychondritis
Sensorineural hearing impairment, Biparietal narrowing, Chondritis of pinna ORPHA:728
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Anteverted nares, Wide nasal bridge, Highly arched eyebrow, Micrognathia OMIM:618342
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Joint laxity, Hy... OMIM:157800
Intellectual Developmental Disorder, Autosomal Dominant 29
Frontal bossing, Wide nose, Broad hallux, Sandal gap, Synophrys, Brachycephaly, Hip dysplasia, Cu... OMIM:616078
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... ORPHA:99646
Spastic Paraplegia 52, Autosomal Recessive
Talipes equinovarus, Bulbous nose, Wide nasal bridge, Prominent nose OMIM:614067
Developmental And Epileptic Encephalopathy 66
Clinodactyly of the 5th finger, Synophrys, Wide nasal bridge OMIM:618067
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Tapered finger, Long fingers, Calcaneovalgus deformity, Brachycephaly, Wide nasal bridge ORPHA:521445
Coffin-Siris Syndrome 12
Micrognathia, Synophrys, Low anterior hairline, Hypotelorism, Protruding ear, Deeply set eye, Sim... OMIM:619325
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Abnormal fingernail morphology, Micrognathia, Adactyly, Split h... ORPHA:989
Peroxisome Biogenesis Disorder 13A (Zellweger)
Flat occiput, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Dolichocephaly, Neonatal d... OMIM:614887
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Depressed nasal bridge, Broad nasal tip, Low anterior hairline, Brachycephaly, Depressed nasal ti... OMIM:618223
Short Syndrome
Enlarged epiphyses, Frontal bossing, Underdeveloped nasal alae, Micrognathia, Wide nasal bridge, ... OMIM:269880
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Anteverted nares, Wide nasal bridge ORPHA:791
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short neck, Synophrys, Large fleshy ears, Narrow chest, Prominent superior crus of antihelix, Mic... ORPHA:280633
Takenouchi-Kosaki Syndrome
Overlapping toe, Highly arched eyebrow, Proximal placement of thumb, Sparse eyebrow, Tapered fing... OMIM:616737
Fetal Akinesia Deformation Sequence 2
Wide nasal bridge, Micrognathia OMIM:618388
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Shal... ORPHA:576
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal fingernail morphology, Micromelia, M... ORPHA:1908
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Broad hallux, Sandal gap, Scarring alopecia of scalp, Wide nasal bridge, 3-4 toe syndactyly, Clin... OMIM:618727
X-Linked Intellectual Disability, Wilson Type
Abnormal position of hair whorl, Brachycephaly ORPHA:85290
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Wide nose, Abnormal fingernail morphology, Supernumerary nipple, Broad nasal tip, Spa... ORPHA:1521
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Frontal bossing, Brachydactyly, Depressed nasal bridge, Highly arched eyebrow, Broad 2nd toe, Pec... OMIM:280000
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Midface retrusion, Brachycephaly, Tapered finger ORPHA:261652
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Wide anterior fontanel, Scaphocephaly, Cranial asymmetry, Wide nasal bridge, Abno... OMIM:614886
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Anteverted nares, Highly arched eyebrow, Synophrys, Brachycephaly, Short nose, Midf... ORPHA:96147
Oslam Syndrome
Clinodactyly, Radioulnar synostosis, Radial deviation of finger OMIM:165660
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Clinodactyly, Wide nasal bridge OMIM:620316
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Pes planus, Arachnodactyly, Posteriorly rotated ears, Hyperlordosis, Hypertelorism,... OMIM:617011
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Micrognathia, Absent radius, Absent thumb, Short neck, Hypertelorism, Wide na... OMIM:614083
Deafness, X-Linked 7
Wide nasal bridge, Thick eyebrow OMIM:301018
Aminoacylase 1 Deficiency
Wide nasal bridge OMIM:609924
Peroxisome Biogenesis Disorder 2B
Frontal bossing, Anteverted nares, Wide nasal bridge, Dolichocephaly OMIM:202370
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Finger syndactyly, Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumera... ORPHA:1071
Tolchin-Le Caignec Syndrome
Arachnodactyly, Prominent nose, Micrognathia, Scaphocephaly, Hirsutism, Wide nasal bridge, Oxycep... OMIM:618971
Degcags Syndrome
Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Hypotelorism, Abnormality of skin pig... OMIM:619488
Coffin-Siris Syndrome 1
Dry hair, Brachycephaly, Prominent interphalangeal joints, Prominent fingertip pads, Clinodactyly... OMIM:135900
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Anteverted nares, Micrognathia, Synophrys, Wide nasal bridge, Thick eyebrow OMIM:602562
Stickler Syndrome
Skeletal muscle atrophy, Micrognathia, Osteoarthritis, Abnormal form of the vertebral bodies, Pec... ORPHA:828
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Lateral clavicle hook, Cryptorchidism, Patellar aplasia, Slender l... OMIM:613804
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Abnorma... ORPHA:2908
Skin Creases, Congenital Symmetric Circumferential, 2
Pes planus, Posteriorly rotated ears, Uplifted earlobe, Tapered finger, Short neck, Long fingers,... OMIM:616734
Schimke Immunoosseous Dysplasia
Depressed nasal bridge, Hypermelanotic macule, Bulbous nose, Wide nasal bridge, Fine hair, Coarse... OMIM:242900
Cranioectodermal Dysplasia 2
Micrognathia, Narrow chest, Sparse hair, Syndactyly, Cloverleaf skull, Depressed nasal bridge, Rh... OMIM:613610
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Ulnar deviation of the 3rd finger, Proximal placement of thumb, Postnatal growth retardation, Lon... OMIM:616263
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Pes planus, Joint laxity, Lumbar hyperlordosis, Arachnodactyly... ORPHA:457359
Aica-Ribosiduria
Brachycephaly ORPHA:250977
Branchio-Oculo-Facial Syndrome
Broad nasal tip, Preaxial hand polydactyly, Wide nasal bridge, Premature graying of hair, Fingern... ORPHA:1297
Osteogenesis Imperfecta, Type Xi
Brachycephaly, Protrusio acetabuli, Coxa vara OMIM:610968
Meier-Gorlin Syndrome 5
Small earlobe, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiphysis, Pate... OMIM:613805
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Protr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Protr... ORPHA:363958
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Prominent nasal bridge, Wide nasal bridge OMIM:619556
Angelman Syndrome
Flat occiput, Blue irides, Brachycephaly, Fair hair, Hypopigmentation of the skin OMIM:105830
Pontocerebellar Hypoplasia, Type 10
Highly arched eyebrow, Underdeveloped nasal alae, Tapered finger, Bulbous nose, Synophrys, Wide n... OMIM:615803
De Barsy Syndrome
Congenital hip dislocation, Postnatal growth retardation, Pectus excavatum, Brachycephaly, Coxa v... ORPHA:2962
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Bulbous nose, Wide nasal bridge, ... OMIM:617809
Goldberg-Shprintzen Syndrome
Prominent nasal bridge, Highly arched eyebrow, Tapered finger, Bulbous nose, Synophrys, Increased... OMIM:609460
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hemivertebrae, Femoral bowing, Conductive hearing impairment, Simple ear, Arachnodactyly, Hyperte... OMIM:201750
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Sparse eyelashes, Camptodactyly of finger, Hypertelorism, Spar... ORPHA:306542
Intellectual Developmental Disorder, Autosomal Dominant 70
Highly arched eyebrow, Micrognathia, Broad nasal tip, Wide nasal bridge, Low hanging columella OMIM:620157
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Prominent nose, Micrognathia, Synophrys, Brachycephaly, Clinodactyly of the 5th finger, Prominent... OMIM:612474
Camptodactyly Syndrome, Guadalajara, Type Iii
Small hypothenar eminence, Torticollis, Abnormal pinna morphology, Short neck, Hypertelorism, Abs... OMIM:611929
Mucopolysaccharidosis, Type X
Spatulate ribs, Broad clavicles, Wide nasal bridge, Genu valgum, Hip dysplasia, Broad ribs, Irreg... OMIM:619698
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Depressed nasal bridge, Highly arched eyebrow, Craniosynostosis, Pectus excavatum... ORPHA:309282
Gracile Bone Dysplasia
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... OMIM:602361
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypopla... OMIM:612731
15Q Overgrowth Syndrome
Microretrognathia, Turricephaly, Contracture of the proximal interphalangeal joint of the 2nd fin... ORPHA:314585
Orofaciodigital Syndrome Type 1
Finger syndactyly, Alopecia, Brittle hair, Frontal bossing, Choanal atresia, Tarsal synostosis, U... ORPHA:2750
Beck-Fahrner Syndrome
Hip dysplasia, Brachycephaly OMIM:618798
Radial-Renal Syndrome
Absent radius, External ear malformation, Absent thumb OMIM:179280
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nose, Duplication of thumb phalanx, Highly arched eyebrow, Prominent nose, Long nose, Microg... ORPHA:2995
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Fryns Syndrome
Single transverse palmar crease, Proximal placement of thumb, Short neck, Prominent fingertip pad... OMIM:229850
Jung Syndrome
Depressed nasal bridge, Wide nasal bridge, Low posterior hairline ORPHA:2321
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Prominent nasal bridge, Long nose,... OMIM:137940
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Abnormal hair whorl, Reduced bone ... ORPHA:79474
Rauch-Steindl Syndrome
Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Postnatal growth retardation, Wide n... OMIM:619695
Flat Face-Microstomia-Ear Anomaly Syndrome
Camptodactyly of finger, Highly arched eyebrow, Underdeveloped nasal alae, Long nose, Sparse eyeb... ORPHA:1968
Adenylosuccinase Deficiency
Short nose, Anteverted nares, Brachycephaly OMIM:103050
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Frontal bossing, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Lo... ORPHA:221139
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Sparse eyebro... OMIM:619124
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmentation defect, Narrow greater ... OMIM:312870
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Flat occiput, Micrognathia, Postaxial hand polydactyly, Wide nasal bridge, Narrow chest, Midface ... OMIM:235255
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Wide nasal bridge OMIM:619595
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni... OMIM:601803
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Long foot, Hypertelorism, Abnormal thumb morphology, Metatarsus adductus, Macrotia, Sensorineural... ORPHA:500095
Chromosome 1P36 Deletion Syndrome, Distal
Synophrys, Deeply set eye, Conductive hearing impairment, Clinodactyly of the 5th finger, Thicken... OMIM:607872
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Tapered f... OMIM:300998
Immunodeficiency 59 And Hypoglycemia
Micrognathia, Recurrent upper respiratory tract infections, Wide nasal bridge, Pectus carinatum, ... OMIM:233600
Menkes Disease
Bowing of the long bones, Hypopigmentation of hair, Osteomyelitis, Tarsal synostosis, Recurrent f... ORPHA:565
Intellectual Developmental Disorder, Autosomal Recessive 70
Wide nasal bridge OMIM:618402
Den Hoed-De Boer-Voisin Syndrome
Sandal gap, Widow's peak, Small hand, 2-3 toe syndactyly, Brachycephaly, Short foot, Midface retr... OMIM:619229
Liang-Wang Syndrome
Synophrys, Wide nasal bridge OMIM:618729
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Anteverted nares, Rocker bottom foot, Micrognathia, Hip dislocation, Wide nasal... OMIM:618947
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Toe syndactyly, Hypoplasia of the radius, Wide nasal bridge, Clinodactyly of the 5th finger, Lop ear ORPHA:140952
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Wide nasal bridge, Micrognathia OMIM:616367
Elsahy-Waters Syndrome
Wide nose, Brachydactyly, Anteverted nares, Bifid nasal tip, Pectus excavatum, Bulbous nose, Syno... OMIM:211380
Distal Deletion 12Q
Frontal bossing, Anteverted nares, Broad hallux, Overlapping toe, Micrognathia, Wide anterior fon... ORPHA:96149
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Frontal bossing, Wide nasal bridge, Micrognathia ORPHA:2575
Snijders Blok-Campeau Syndrome
Frontal bossing, Midface retrusion, Wide nasal bridge, Prominent nose OMIM:618205
Proteus Syndrome
Decreased muscle mass, Central heterochromia, Abnormal finger morphology, Abnormal form of the ve... ORPHA:744
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Brachydactyly, Anteverted nares, Narrow nasal tip, Supernumerary nipple, Taper... ORPHA:477993
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Thickened helices, Short neck, Micrognathia, ... ORPHA:1587
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Talipes equinovarus, Wide nasal bridge, Camptodactyly OMIM:617333
Sialidosis Type 1
Frontal bossing, Short thorax, Wide nasal bridge, Pectus carinatum ORPHA:812
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Prominent nose, Brachycephaly, Depressed nasal bridge, Tapered finger... ORPHA:480880
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Anteverted nares, Wide nasal bridge, Underdeveloped nasal alae OMIM:616158
Coffin-Siris Syndrome 4
Narrow nasal bridge, Sparse scalp hair, Wide nose, Depressed nasal bridge, Anteverted nares, Wide... OMIM:614609
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Trichiasis, Brachycephaly, Nail dysplasia, Camptodactyly, Trichodysplasia OMIM:601701
Zellweger Syndrome
Flat occiput, Depressed nasal bridge, Micrognathia, Brushfield spots, Wide anterior fontanel, Wid... ORPHA:912
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Arachnodactyly, Abnormal thumb morphology, Cryptorchidism, Sensorineura... ORPHA:2719
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Brachycephaly, Bifid nose, Midline defect of the nose, Absent inner ey... OMIM:229400
Juvenile Polyposis Of Infancy
Hypertelorism, Clubbing of fingers, Midclavicular hypoplasia, Low-set ears, Broad thumb, Broad ph... ORPHA:79076
Phelan-Mcdermid Syndrome
Micrognathia, Hypoplastic toenails, Bulbous nose, Wide nasal bridge, 2-3 toe syndactyly, Large ha... OMIM:606232
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Frontal bossing, Toe syndactyly, Bulbous nose, Wide nasal bridge, Short foo... ORPHA:250989
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Depressed nasal bridge, Wide nasal bridge OMIM:615760
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Small hand, Brachycephaly, Short foot, Plagiocephaly, Hip dysplasia ORPHA:500055
Chromosome 1P35 Deletion Syndrome
Micrognathia, Increased femoral anteversion, Wide nasal bridge, Hip dysplasia, Clinodactyly of th... OMIM:617930
Intellectual Developmental Disorder, Autosomal Dominant 58
Few cafe-au-lait spots, Broad nasal tip, Wide nasal bridge, Plagiocephaly, Hypoplastic fifth toenail OMIM:618106
Peroxisome Biogenesis Disorder 1B
Epiphyseal stippling, Convex nasal ridge, Wide nasal bridge, Midface retrusion OMIM:601539
Rubinstein-Taybi Syndrome 1
Prominent nose, Micrognathia, Low anterior hairline, Hypoplastic iliac wing, Prominent fingertip ... OMIM:180849
Meckel Syndrome 12
Rocker bottom foot, Anteverted nares, Wide nasal bridge, Micrognathia OMIM:616258
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Anteverted nares, Rocker bottom foot, Flat occiput, Micrognathia, Br... OMIM:214100
Hutchinson-Gilford Progeria Syndrome
Micrognathia, Osteoarthritis, Reduced bone mineral density, Shallow orbits, Conductive hearing im... ORPHA:740
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Broad nasal tip, Postnatal growth retardation, Micrognathia, Wide nasal b... OMIM:300749
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Anteverted nares, Prominent nose, Broad nasal tip, Tapered finger, Bulbous nose, Long... OMIM:619950
Dyskeratosis Congenita
Abnormal eyebrow morphology, Coarse metaphyseal trabecularization, Alopecia, Abnormal fingernail ... ORPHA:1775
Nance-Horan Syndrome
Macrotia, Short phalanx of finger, Broad finger OMIM:302350
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Depressed nasal bridge, Craniosynostosis, Micrognathia, Pectus excavatum, Brachycephaly, Wide nas... ORPHA:369837
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Prominent eyelashes, Wide nasal bridge, Trigonocephaly, Short nose OMIM:619179
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Alopecia, Posteriorly rotated ears, Short neck, Micrognathia, Hy... ORPHA:96176
15q26 overgrowth syndrome
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Prominent nose, Tapered fing... DECIPHER:81
Developmental And Epileptic Encephalopathy 80
Tapered finger, Micrognathia, Wide nasal bridge, Talipes equinovarus, Small nail, Triphalangeal t... OMIM:618580
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Congenital muscular torticollis, Aplastic clavicle, Abnormalit... ORPHA:2538
Meester-Loeys Syndrome
Pes planus, Arachnodactyly, Hypertelorism, Hypertrichosis, Cervical spine instability, Abnormal s... OMIM:300989
Hengel-Maroofian-Schols Syndrome
Synophrys, Wide nasal bridge, Thick eyebrow OMIM:619641
Macs Syndrome
Alopecia, Micrognathia, Sparse eyebrow, Pectus excavatum, Wide nasal bridge, Sparse hair, Brachyd... OMIM:613075
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Absent nipple, Depressed nasal bridge, Thoracolumbar kyphoscoli... ORPHA:1299
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Metatarsus adductus, 2-3 toe syndactyly, Brachycephaly, Pectus carinatum, P... OMIM:611962
Joubert Syndrome 3
Pigmentary retinopathy, Anteverted nares, Wide nasal bridge, Highly arched eyebrow OMIM:608629
Bifid Nose With Or Without Anorectal And Renal Anomalies
Brachycephaly, Bulbous nose, Bifid nose, Thick eyebrow OMIM:608980
Genitopatellar Syndrome
Hip contracture, Sparse scalp hair, Congenital hip dislocation, Hearing impairment, Micrognathia,... OMIM:606170
Alg2-Cdg
Wide nasal bridge ORPHA:79326
Acrocallosal Syndrome
Microretrognathia, Finger syndactyly, Frontal bossing, Toe syndactyly, Duplication of thumb phala... OMIM:200990
Distal Deletion 3P
Anteverted nares, Micrognathia, Postaxial hand polydactyly, Brachycephaly, Clinodactyly of the 5t... ORPHA:1620
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Recur... ORPHA:636
7Q11.23 Microduplication Syndrome
Craniosynostosis, Broad nasal tip, Micrognathia, Sparse anterior scalp hair, Long fingers, Pectus... ORPHA:96121
Hennekam-Beemer Syndrome
Wide nose, Generalized hyperpigmentation, Camptodactyly of finger, Micrognathia, Long nose, Wide ... ORPHA:2135
Axenfeld-Rieger Syndrome
Depressed nasal bridge, Wide nasal bridge, Midface retrusion ORPHA:782
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Developmental Delay With Or Without Dysmorphic Facies And Autism
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Supernum... OMIM:618454
Zimmermann-Laband Syndrome 1
Hyperextensibility of the finger joints, Thick eyebrow, Thick hair, Highly arched eyebrow, Broad ... OMIM:135500
Kleefstra Syndrome
Anteverted nares, Supernumerary nipple, Highly arched eyebrow, Synophrys, Brachycephaly, Talipes ... ORPHA:261494
Congenital Disorder Of Glycosylation, Type 2V
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Low posterior hairline, Talipes equin... OMIM:619493
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Highly arched eyebrow, Proximal placement of thumb, Postnatal growth retardation... ORPHA:487796
X-Linked Intellectual Disability, Najm Type
Wide nasal bridge, Micrognathia ORPHA:163937
Neu-Laxova Syndrome 1
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Neonatal death, Finger syndactyly... OMIM:256520
1P36 Deletion Syndrome
11 pairs of ribs, Abnormal eyebrow morphology, Frontal bossing, Depressed nasal bridge, Camptodac... ORPHA:1606
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Overlapping fingers, Wide nasal bridge OMIM:615966
Glycosylphosphatidylinositol Biosynthesis Defect 11
Wide nasal bridge OMIM:616025
Pontocerebellar Hypoplasia, Type 7
Broad nasal tip, Micrognathia, Synophrys, Wide nasal bridge, Pectus carinatum, Hypopigmentation o... OMIM:614969
Beemer-Ertbruggen Syndrome
Bulbous nose, Wide nasal bridge, Micrognathia ORPHA:1237
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Absent nipple, Depressed nasal bridge, Choanal atresia, Broad hallux, Underde... OMIM:620186
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hip dislocation, Wide nasal bridge, Limb undergrowth, Short nose, Hirsutism OMIM:618005
Renpenning Syndrome 1
Brittle hair, Micrognathia, Pectus excavatum, Bulbous nose, Wide nasal bridge, Brachycephaly, Cli... OMIM:309500
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Pectus excavatum, Bulbous nose, Synophrys, Hirsutism, Wide nasal bri... ORPHA:488632
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Alopecia, Dry hair, Frontal bossing, Underdeveloped nasal alae, Wi... OMIM:311200
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met... ORPHA:2751
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Frontal bossing, Sandal gap, Broad nasal tip, Dolichocephaly, Long finger... OMIM:620330
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microretrognathia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Broad hallux, Overlapping ... ORPHA:508498
Cog5-Cdg
Camptodactyly of finger, Prominent nose, Wide nasal bridge, Genu valgum, Finger clinodactyly, Abn... ORPHA:263487
Barber-Say Syndrome
Anteverted nares, Bulbous nose, Wide nasal bridge, Sparse or absent eyelashes, Breast aplasia, Hy... ORPHA:1231
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:617296
Andersen-Tawil Syndrome
Micrognathia, Bulbous nose, Scaphocephaly, Small hand, Wide nasal bridge, 2-3 toe syndactyly, Sho... ORPHA:37553
Mullegama-Klein-Martinez Syndrome
Frontal bossing, Depressed nasal bridge, Curly eyelashes, Prominent nose, Micrognathia, Bulbous n... OMIM:301022
Microphthalmia, Syndromic 1
Syndactyly, Lumbar hyperlordosis, Abnormal pinna morphology, Down-sloping shoulders, Kyphoscolios... OMIM:309800
Treacher-Collins Syndrome
Frontal bossing, Choanal atresia, Micrognathia, Absent eyelashes, Abnormal hair morphology, Low a... ORPHA:861
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thick eyebrow, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Synophrys, Wide nasal bridg... ORPHA:466950
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Postnatal growth reta... ORPHA:83617
Hereditary Orotic Aciduria
Abnormal toenail morphology, Wide nasal bridge, Hip dysplasia ORPHA:30
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Frontal bossing, Missi... ORPHA:2308
White-Sutton Syndrome
Depressed nasal bridge, Broad nasal tip, Brachycephaly, Midface retrusion, Vitiligo ORPHA:468678
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Short neck, Micrognathia, Talipes calcaneovalgus, Paroxysmal bursts of laughter, Tapered finger, ... OMIM:309580
Micro Syndrome
Abnormality of retinal pigmentation, Anteverted nares, Micrognathia, Wide nasal bridge, Short nos... ORPHA:2510
Neurofibromatosis, Type I
Inguinal freckling, Rhabdomyosarcoma, Hypertelorism, Pectus excavatum, Spina bifida, Axillary fre... OMIM:162200
Sialuria
Long hallux, Wide nasal bridge, 2-3 toe syndactyly ORPHA:3166
Faciocardiorenal Syndrome
Plagiocephaly, Wide nasal bridge, Underdeveloped nasal alae ORPHA:1973
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Abnormal location of the eyebrow, Equinus calcaneus, Widow's peak, 2-3 toe syndactyly, Bilateral ... ORPHA:522077
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Premature... OMIM:113620
Miller-Dieker Lissencephaly Syndrome
Frontal bossing, Anteverted nares, Micrognathia, Wide nasal bridge, Polydactyly, Camptodactyly, C... OMIM:247200
Hartsfield Syndrome
Syndactyly, Posteriorly rotated ears, Craniosynostosis, Hypertelorism, Cryptorchidism, Hypotelori... OMIM:615465
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hypopigmentation of hair, Inappropriate laughter, Scoliosis, Hy... ORPHA:98794
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Broad nasal tip, Hypoplastic fifth fingernail, Wide nasal bridge, Shortening of all distal phalan... OMIM:614207
Holoprosencephaly 7
Frontal bossing, Flat occiput, Flat nasal alae, Synophrys, Absent nasal septal cartilage, Wide na... OMIM:610828
Ataxia-Telangiectasia
Skeletal muscle atrophy, Hypopigmentation of hair, Premature graying of hair, Multiple cafe-au-la... ORPHA:100
Stromme Syndrome
Prominent nasal bridge, Micrognathia, Preaxial polydactyly, Wide nasal bridge, Short columella, S... OMIM:243605
X-Linked Intellectual Disability, Armfield Type
Depressed nasal bridge, Micrognathia, Small hand, Brachycephaly, Short foot, Midface retrusion ORPHA:85276
X-Linked Intellectual Disability Due To Gria3 Mutations
Brachycephaly ORPHA:364028
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Frontal bossing, Anteverted nares, Underdeveloped nasal alae, Broad nasal tip, Wide nasal bridge ORPHA:438216
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Plagiocephaly, Mesomelia, Short nose, Hi... OMIM:613457
Autosomal Dominant Hyper-Ige Syndrome
Craniosynostosis, Abnormal hair morphology, Paronychia, Wide nasal bridge, Dystrophic fingernails ORPHA:2314
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Maternal Phenylketonuria
Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Wide nasal bridge, Clinodactyl... ORPHA:2209
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Ocular albinism, Wide nasal bridge, Generalized hypopig... OMIM:608233
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Pes planus, Posteriorly rotated ears, Hearing impairment, Hypertelorism, Long fingers, ... OMIM:613355
Cystinosis, Nephropathic
Male infertility, Skeletal muscle atrophy, Hypopigmentation of hair, Retinal pigment epithelial m... OMIM:219800
Neonatal Marfan Syndrome
Long toe, Arachnodactyly, Micrognathia, Long fingers, Wide nasal bridge, Pectus carinatum, Enlarg... ORPHA:284979
Cerebrofacioarticular Syndrome
Syndactyly, Micrognathia, Bilateral choanal atresia/stenosis, Wide nasal bridge, Talipes equinova... ORPHA:314679
Fraser Syndrome 1
Absent eyebrow, Wide nose, Cleft ala nasi, Depressed nasal bridge, Aplasia/Hypoplasia of the thum... OMIM:219000
Keutel Syndrome
Depressed nasal bridge, Cartilaginous ossification of nose, Short hallux, Premature fusion of pha... OMIM:245150
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas... ORPHA:163746
Spastic Paraplegia 51, Autosomal Recessive
Long nose, Bulbous nose, Wide nasal bridge, Talipes equinovarus OMIM:613744
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Inappropriate laughter, Iris hypopigmenta... ORPHA:411515
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypogonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Split hand, Blue irides, Nail pits... OMIM:604292
Witteveen-Kolk Syndrome
Proximal placement of thumb, Clinodactyly, Fragile nails, Short palm, Clinodactyly of the 5th fin... OMIM:613406
Helsmoortel-Van Der Aa Syndrome
Anteverted nares, Sandal gap, Broad hallux, Broad nasal tip, Tapered finger, Pectus excavatum, Sm... OMIM:615873
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Wide nasal bridge OMIM:611087
Rabin-Pappas Syndrome
Highly arched eyebrow, Micrognathia, Broad nasal tip, Wide nasal bridge, Low hanging columella OMIM:620155
Fucosidosis
Brachycephaly, Abnormality of the nail ORPHA:349
Congenital Disorder Of Glycosylation, Type Ii
Wide nasal bridge OMIM:607906
Bohring-Opitz Syndrome
Depressed nasal bridge, Anteverted nares, Trigonocephaly, Micrognathia, Pectus excavatum, Synophr... ORPHA:97297
Peters Plus Syndrome
Frontal bossing, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomelia... ORPHA:709
Lymphangiectasia, Pulmonary, Congenital
Pectus excavatum, Depressed nasal bridge, Mild postnatal growth retardation, Wide nasal bridge OMIM:265300
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Prominent nose, Micrognath... OMIM:619503
Hennekam Syndrome
Finger syndactyly, Depressed nasal bridge, Mild postnatal growth retardation, Sparse axillary hai... ORPHA:2136
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Flat occiput, Anteverted nares, Wide nasal bridge, Neonatal death OMIM:614052
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Single transverse palmar crease, Hypertelorism, Osteopetrosis, Cafe-au-... OMIM:618541
Opitz Gbbb Syndrome
Frontal bossing, Abnormal nasopharynx morphology, Anteverted nares, Wide anterior fontanel, Widow... OMIM:300000
Dubowitz Syndrome
Sparse scalp hair, Syndactyly, Prominent nasal bridge, Broad nasal tip, Postnatal growth retardat... OMIM:223370
Down Syndrome
Sandal gap, Brushfield spots, Hypoplastic iliac wing, Brachycephaly, Short palm, Short middle pha... OMIM:190685
Zttk Syndrome
Curly hair, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Sparse eyebrow, Small hand... OMIM:617140
Fryns Syndrome
Hypoplastic fingernail, Anteverted nares, Micrognathia, Wide nasal bridge, Narrow chest, Clinodac... ORPHA:2059
Okamoto Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Extension of hair growth on ... ORPHA:2729
Ogden Syndrome
Congenital hip dislocation, Micrognathia, Clinodactyly of the 5th finger, Microretrognathia, Depr... OMIM:300855
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Abnormality of hair texture, Micrognathia, Synophrys, Abnormality of dermal mel... ORPHA:73223
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Feingold Syndrome 1
Anteverted nares, Micrognathia, Short thumb, Short toe, 4-5 toe syndactyly, Wide nasal bridge, 2-... OMIM:164280
Congenital Disorder Of Deglycosylation 1
Anteverted nares, Small hand, Brachycephaly, Short foot, Midface retrusion OMIM:615273
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Plagiocephaly, Brachycephaly, Tapered finger OMIM:301072
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... OMIM:203300
B4Galt1-Cdg
Wide nasal bridge ORPHA:79332
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Arachnodactyly, Pectus excavatum, Brachycephaly, Short columella, Talipes equi... OMIM:601776
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Wide nasal bridge, Micrognathia ORPHA:85321
Leukocyte Adhesion Deficiency Type Ii
Depressed nasal bridge, Overlapping toe, Low anterior hairline, Depressed nasal ridge, Wide nasal... ORPHA:99843
Blepharophimosis, Ptosis, And Epicanthus Inversus
Sparse pubic hair, Depressed nasal bridge, Wide nasal bridge, Highly arched eyebrow OMIM:110100
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, Plagiocephaly, Hip dysplasia ORPHA:453499
Congenital Myopathy 13
Micrognathia, Bilateral talipes equinovarus, Brachycephaly, Midface retrusion OMIM:255995
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
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Broad nasal tip, Synophrys, Bulbous nose, Wide nasal bridge, Short palm, ... ORPHA:466943
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Micrognathia, Brachycephaly, Plagiocephaly,... OMIM:607932
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, 2-5 finger syndactyly, Prominent nasal bridge, Camptodactyly of finger, Abnorm... ORPHA:468631
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Tapered finger, Broad nasal tip, Wide nasal bridge, Plagiocephaly, Dolichocephaly OMIM:619480
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Wide nasal bridge, Po... OMIM:607330
Obesity And Hypopigmentation
Red hair OMIM:620195
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Cutis Laxa, Autosomal Recessive, Type Ic
Sandal gap, Micrognathia, Wide nasal bridge, Dolichocephaly, Midface retrusion OMIM:613177
Viss Syndrome
Long toe, Sparse scalp hair, Alopecia, Frontal bossing, Depressed nasal bridge, Prominent nasal b... OMIM:619472
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Wide nasal bridge, Uncombable hair, Woolly hair, Cafe-au-... ORPHA:84064
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Osteopetrosis With Renal Tubular Acidosis
Thickened calvaria, Micrognathia, Pectus excavatum, Brachycephaly, Plagiocephaly, Prominent float... ORPHA:2785
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Postaxial polydactyly, Broad nasal tip, Supernumerary nipple, Underdeveloped nasal alae, Sagittal... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Postaxial polydactyly, Broad nasal tip, Supernumerary nipple, Underdeveloped nasal alae, Sagittal... ORPHA:352665
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Underdeveloped nasal alae, Micrognathia, Prominent nose, Synophrys, Wide nasal bridge ORPHA:90024
Oculoectodermal Syndrome
Depressed nasal bridge, Supernumerary nipple, Hyperpigmented streaks, Wide nasal bridge, Parietal... OMIM:600268
Diamond-Blackfan Anemia
Depressed nasal bridge, Absent thumb, Micrognathia, Short thumb, Partial duplication of thumb pha... ORPHA:124
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Highly arched eyebrow, Micrognathia, Wide nasal bridge, Short nose ORPHA:2282
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Vici Syndrome
Hypopigmentation of hair, Hypertelorism, Micrognathia, Albinism, Sensorineural hearing impairment... OMIM:242840
Smith-Lemli-Opitz Syndrome
Microretrognathia, Depressed nasal bridge, Anteverted nares, Micromelia, Overlapping toe, Metatar... OMIM:270400
Duplication Of The Pituitary Gland
Thoracic scoliosis, Brachyturricephaly, Midface retrusion ORPHA:314621
Monosomy 22Q13.3
Hypoplastic toenails, Bulbous nose, Wide nasal bridge, Large hands, Long eyelashes, Dolichocephal... ORPHA:48652
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
22Q11.2 Deletion Syndrome
Turricephaly, Arachnodactyly, Prominent nasal bridge, Choanal atresia, Micrognathia, Bulbous nose... ORPHA:567
Cutis Laxa, Autosomal Recessive, Type Iid
Bulbous nose, Hip dislocation, Wide nasal bridge, Hip dysplasia, Narrow naris, Talipes equinovaru... OMIM:617403
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad eyebrow, Anteverted nares, Bulbous nose, Synophrys, Wide nasal bridge, Depressed nasal tip,... OMIM:619475
Kabuki Syndrome 1
Congenital hip dislocation, Highly arched eyebrow, Micrognathia, Postnatal growth retardation, Sp... OMIM:147920
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Pectus excavatum, Brachycephaly, Thoracolumbar k... ORPHA:2072
Fraser Syndrome
Finger syndactyly, Cleft ala nasi, Depressed nasal bridge, Toe syndactyly, Abnormal hair pattern,... ORPHA:2052
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Anteverted nares, Broad nasal tip, Long nose, Hypoplastic toenails, Bulbous nose, Tape... OMIM:619522
Martin-Probst Syndrome
Hypoplastic nipples, Wide nasal bridge, Micrognathia OMIM:300519
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Inappropriate laughter, Iris hypopigmenta... ORPHA:411511
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Wide nasal bridge, Pectus carinatum, Clinodactyly, ... OMIM:612541
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Wide nose, Micrognathia, Abnormal eyelash morphology, Wide n... ORPHA:2556
Kosaki Overgrowth Syndrome
Depressed nasal bridge, Wide nasal bridge OMIM:616592
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge OMIM:601499
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormality of retinal pigmentation, Wide nose, Anteverted nares, Abnormal eyelash ... ORPHA:2526
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Wide nose, Thickened ribs, Camptodactyly of finger, Recurren... ORPHA:217085
Opitz Gbbb Syndrome
Anteverted nares, Craniosynostosis, Micrognathia, Widow's peak, Wide nasal bridge ORPHA:2745
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Wide nose, Thickened ribs, Camptodactyly of finger, Recurren... ORPHA:217093
Microphthalmia, Syndromic 9
Neonatal death, Wide nasal bridge, Micrognathia OMIM:601186
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Frontal bossing, Depressed nasal bridge, Arachnodactyly, Sagittal craniosynostosis, A... ORPHA:500150
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Aspartylglucosaminuria
Depressed nasal bridge, Anteverted nares, Hypoplastic frontal sinuses, Brachycephaly, Thickened c... OMIM:208400
Wars2-Related Combined Oxidative Phosphorylation Defect
Wide nasal bridge ORPHA:572798
Shprintzen Omphalocele Syndrome
Narrow chest, Short columella, Flared nostrils, Wide nasal bridge OMIM:182210
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Posterior rib fusion, Brachycephaly, Micrognathia OMIM:265380
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Wide nasal bridge, Depressed nasal tip OMIM:619306
Perlman Syndrome
Depressed nasal bridge, Wide nasal bridge, Micrognathia OMIM:267000
Common Variable Immunodeficiency
Brachycephaly ORPHA:1572
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Depressed nasal bridge, Wide nasal bridge OMIM:619418
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Wide nose, Recurrent upper respiratory tract infections, Wid... ORPHA:580
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Anteverted nares, Highly arched eyebrow, Micrognathia, Low anterior hairline, Wide nasal bridge, ... OMIM:220111
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
High anterior hairline, Wide nasal bridge OMIM:619714
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Synophrys, Depressed nasal bridge, Wide nasal bridge ORPHA:447997
Mowat-Wilson Syndrome
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, P... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P... ORPHA:261537
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Ocular albinism, Melanocytic nevus,... ORPHA:79430
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Calcaneovalgus deformity, Pectus carinatum, Long hallux, Long toe, Syndactyly, Broad hallux, Arac... ORPHA:261552
Williams Syndrome
Hallux valgus, Abnormal fingernail morphology, Down-sloping shoulders, Micrognathia, Hypoplastic ... ORPHA:904
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Alopecia, Abnormal eyelash morphology, Abnormal cartilage morphology, ... ORPHA:2396
Mowat-Wilson Syndrome
Supernumerary nipple, Pectus excavatum, Wide nasal bridge, Pectus carinatum, Prominent nasal tip,... OMIM:235730
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Anteverted nares, Wide nasal bridge OMIM:617641
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Thick eyebrow, Wide nasal bridge, Highly arched eyebrow ORPHA:572333
Pontocerebellar Hypoplasia Type 7
Depressed nasal bridge, Wide nasal bridge, Micrognathia ORPHA:284339
Cardiac-Urogenital Syndrome
Wide nasal bridge, 2-3 toe syndactyly OMIM:618280
Congenital Disorder Of Glycosylation, Type Iim
Wide nasal bridge, Thick eyebrow OMIM:300896
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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tbx15tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Tbx15tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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