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Gene: Rpl38 MGI:1914921

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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:
ribosomal protein L38
Synonyms:
Rbt,  Tss,  Ts,  0610025G13Rik

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 Rpl38 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.

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

The table below shows human diseases predicted to be associated to Rpl38 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication OMIM:223200
Dwarfism With Tall Vertebrae
Increased vertebral height, Severe short stature, Coxa vara OMIM:126950
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint d... OMIM:618395
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... ORPHA:1436
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Abnormal... ORPHA:3268
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Spondylometaphyseal Dysplasia, Corner Fracture Type
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari... OMIM:184255
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... OMIM:108720
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Flared metaphysis, Short lo... OMIM:146000
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... OMIM:309620
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums ORPHA:401942
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... OMIM:277300
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Large hands, Orofacial cleft, Cleft upper lip ORPHA:85287
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Hemivertebrae, D... OMIM:122600
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Anteverted nares, Missing ribs, Microcephaly, Short neck, Hyperlordosis, Sh... ORPHA:1797
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... ORPHA:2311
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate... ORPHA:1354
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... OMIM:609052
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short stature, Hyperlordosis, Pectus excavatum, Short neck, Kyphosi... ORPHA:2522
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Dispr... ORPHA:40
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibu... OMIM:602557
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Micr... OMIM:616716
Femoral-Facial Syndrome
Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Ri... ORPHA:1988
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Abnormal hair morphology, Preaxial... ORPHA:64754
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Midface retrusion, Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coro... OMIM:118651
Brachyolmia, Maroteaux Type
Short stature, Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondy... ORPHA:93302
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Depressed nasal ridge, Cox... ORPHA:2831
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Short stature, Spinal instability OMIM:251250
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid... OMIM:619598
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Short stature, Restricted large joint movement, Disproportionate short-t... ORPHA:163665
Autosomal Dominant Brachyolmia
Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal ... ORPHA:93304
Dental Anomalies And Short Stature
Short stature, Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, S... OMIM:601216
Isolated Cleft Lip
Small for gestational age, Abnormal Eustachian tube morphology, Conductive hearing impairment, Um... ORPHA:199302
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Telecanthus
Anodontia, Bilateral cleft lip and palate OMIM:187350
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Verteb... OMIM:611209
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... ORPHA:1801
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Beaded ribs, Micrognathia, Short neck, Multiple prenatal fractures, Flexion contractu... OMIM:616897
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta... OMIM:608681
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Anterior ... OMIM:601357
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, A... OMIM:600373
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Short stature, Bifid distal phalanx of the thumb, Overweight, Triangular shaped di... ORPHA:370010
Charlie M Syndrome
Finger syndactyly, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilio... ORPHA:1406
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Depressed nasal bridge, Ventricular septal defect, Short stature, Joint sti... OMIM:277600
Weill-Marchesani Syndrome 2
Broad skull, Short metatarsal, Brachycephaly, Broad ribs, Broad metacarpals, Short metacarpal, Lu... OMIM:608328
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Mi... OMIM:222765
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Verheij Syndrome
Branchial cyst, Vertebral fusion, Joint laxity, Small for gestational age, Anteverted nares, Trun... OMIM:615583
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Disproportionate s... OMIM:609223
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Thanatophoric Dysplasia Type 1
Micromelia, Femoral bowing, Narrow chest, Atrial septal defect, Cloverleaf skull, Depressed nasal... ORPHA:1860
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Patent ductus arteriosu... OMIM:618845
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... OMIM:602418
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... ORPHA:2790
Syngnathia
Cleft palate OMIM:119550
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Absent radius, Elb... OMIM:171480
Mmep Syndrome
Split foot, Orofacial cleft, Median cleft lip, Triphalangeal thumb ORPHA:3434
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Hemivert... OMIM:173800
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular r... ORPHA:168555
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... ORPHA:66637
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... ORPHA:64755
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... ORPHA:1836
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... OMIM:620076
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Synophrys, Brachycephaly, Abnormal form of the vertebral bodies, Scapular ... ORPHA:1327
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Wide nose, Short femur, Sandal gap, Rhizomelia, Small for gestational age, Butterf... OMIM:607143
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... ORPHA:2756
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Short tubular bones of the hand, Coxa valga, Vertebra... ORPHA:85184
Orofacial Cleft 14
Median cleft lip OMIM:615892
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Gastroschisis
Abdominal wall defect, Gastroschisis OMIM:230750
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Sc... ORPHA:530983
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ... ORPHA:2635
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Abnormality of the hand, Frontal encephalocele, Downturned corners of m... ORPHA:521308
Osteoarthritis With Mild Chondrodysplasia
Short stature, Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v... OMIM:604864
Craniodiaphyseal Dysplasia
Depressed nasal bridge, Short stature, Optic atrophy, Wide nasal bridge, Conductive hearing impai... ORPHA:1513
Intellectual Disability, Wolff Type
Inguinal hernia, Camptodactyly of finger, Non-midline cleft lip, Thick lower lip vermilion, Orofa... ORPHA:3080
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Frontal bossing, Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping ... OMIM:300863
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... OMIM:211350
Omodysplasia 2
Short humerus, Frontal bossing, Depressed nasal bridge, Micrognathia, Bifid nasal tip, Anterior w... OMIM:164745
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stat... OMIM:609324
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Anteverted nares, Single transverse palmar... ORPHA:2332
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... OMIM:142900
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Short stature, Microcephaly, Abnormal thorax morphology, Sm... ORPHA:1445
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr... OMIM:616583
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Absent tragus, Overfolded helix, Abnormal middle ear morphology, Abnormal antiheli... ORPHA:79113
Anencephaly 2
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv... ORPHA:2370
Facial Clefting, Oblique, 1
Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho... ORPHA:90650
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Narrow chest, Sho... ORPHA:56304
Achard Syndrome
Broad skull, Arachnodactyly, Brachycephaly, Micrognathia OMIM:100700
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Diprosopus
External ear malformation, Anencephaly, Abnormality of the nose ORPHA:1681
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Missing ribs, Humeroradi... OMIM:251230
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Increa... ORPHA:94068
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Sh... OMIM:602471
Microhydranencephaly
Multiple joint contractures, Short stature, Prominent nasal bridge, Microcephaly, Pachygyria, Gro... OMIM:605013
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Short stature, Ovoid vertebral bodies, Abnormal femoral neck mo... ORPHA:63446
Schisis Association
Omphalocele, Encephalocele, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cle... ORPHA:63862
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Sclerotic vertebr... OMIM:615198
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased i... OMIM:618961
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral... OMIM:616549
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal fo... ORPHA:2234
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Short neck, Cardiomegaly, Delayed epiphyseal ossification, Narrow chest, Death in chi... OMIM:613320
Sprengel Deformity
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... ORPHA:3181
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Short stature,... OMIM:151200
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Single transverse palmar crease, Narrow mouth, Fibular hypoplasia, High palate, ... OMIM:201170
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Odontochondrodysplasia
Frontal bossing, Bowing of the long bones, Death in infancy, Depressed nasal bridge, Short statur... ORPHA:166272
Spondylometaphyseal Dysplasia, Axial
Short stature, Anterior rib cupping, Rhizomelia, Proximal femoral metaphyseal irregularity, Dispr... OMIM:602271
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Ovoid vertebral bodies, Joint stiff... OMIM:132400
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short stature, Short toe, Obesi... OMIM:139210
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... ORPHA:1149
Cartilage-Hair Hypoplasia
Short palm, Metaphyseal dysplasia, Joint laxity, Lumbar hyperlordosis, Absent pubertal growth spu... OMIM:250250
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Limitation of joint mobility, Osteoarthritis, Abnormal joint morphology, Abnorm... ORPHA:93351
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Pelviscapular Dysplasia
Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Sh... ORPHA:93333
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... ORPHA:2019
Miller-Dieker Syndrome
Omphalocele, Anteverted nares, Growth delay, EEG abnormality, Lissencephaly, Hypoplasia of the co... ORPHA:531
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Inguinal hernia, Microcephaly, Sensorineural hearing impairment, Flexion con... OMIM:618379
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Achondrogenesis Type 1B
Frontal bossing, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Short neck, Ab... ORPHA:93298
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Dextrocardia, Missing ri... OMIM:613686
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Micro... ORPHA:2570
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Ab... ORPHA:666
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... OMIM:271630
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Flat capital femoral epiphysis, Delayed skeletal maturation, Genu va... OMIM:608361
Donnai-Barrow Syndrome
Omphalocele, Posteriorly rotated ears, Depressed nasal bridge, Congenital diaphragmatic hernia, W... ORPHA:2143
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Joint stiffness... ORPHA:969
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Short neck, Clinodactyly of the 2nd toe, Coxa valga, Short distal... OMIM:620073
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Short neck, Short palm, Clinodactyly of the 5th... ORPHA:915
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Prominent nose, Micrognathia, Short neck, Delayed ep... OMIM:210710
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Narrow mouth, Mi... ORPHA:1307
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Anteverted nares, Short neck, Kyphosis, Partial agenesis of ... ORPHA:420794
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis, Short stature, Underdeveloped nasal alae, Microcephaly, Wide nasal bridge... OMIM:248910
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Frontal bossing, Death in infancy, Rhizomelia, Short stature, Micrognathia, Metaphyse... ORPHA:163966
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... ORPHA:90646
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Delayed skeletal ... OMIM:612447
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Osteolysis, Joint swelling, Fused cervic... OMIM:612852
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... OMIM:608940
Achondrogenesis Type 1A
Multiple rib fractures, Frontal bossing, Severe short stature, Anteverted nares, Recurrent fractu... ORPHA:93299
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short stature, Short neck ORPHA:2578
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femora... OMIM:601559
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... OMIM:249710
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Meckel Syndrome, Type 2
Omphalocele, Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... OMIM:603194
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Short neck, Abnormal form of the vertebral bodies, Scoliosis, Decreased skull ossi... ORPHA:3319
Acrocephalopolydactyly
Genu recurvatum, Short neck, Oxycephaly, Depressed nasal ridge, Hepatosplenomegaly, Short long bo... ORPHA:221054
Basal Cell Nevus Syndrome 1
Palmar pits, Plantar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Parietal ... OMIM:109400
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Fibrochondrogenesis 2
Frontal bossing, Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ri... OMIM:614524
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Frontal bos... ORPHA:93267
Slc35A2-Cdg
Osteopenia, Abnormal long bone morphology, Short tibia, Short stature, Aplasia/hypoplasia involvi... ORPHA:356961
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... OMIM:141400
Autosomal Dominant Omodysplasia
Short humerus, Frontal bossing, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocati... ORPHA:93328
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Low-set, posteriorly rotated ears, Short stature, Microcephaly, Hydrocephalus, Men... ORPHA:1908
Alagille Syndrome
Hypoplasia of the ulna, Failure to thrive, Delayed skeletal maturation, Abnormal rib morphology, ... ORPHA:52
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split foot OMIM:601349
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Iron defici... ORPHA:93315
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Frontal bossing, Enlarged joints, Short stature, Pectus excavatum, Delayed epiphyseal ossificatio... ORPHA:166024
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Pes planus, Ventricular septal defect, Rocker ... ORPHA:163979
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Parietal Foramina 1
Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis,... OMIM:618000
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Intrau... ORPHA:96183
Autosomal Recessive Robinow Syndrome
Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid val... ORPHA:1507
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Cleft palate, Split foot OMIM:183700
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Short stature, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyper... OMIM:617396
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Growth delay, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility,... OMIM:617333
Constricting Bands, Congenital
Omphalocele, Syndactyly, Encephalocele, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes ... OMIM:217100
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Abnormal ster... ORPHA:2990
Cenani-Lenz Syndrome
Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Absent fingernail, Synostos... ORPHA:3258
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... ORPHA:628
Acalvaria
Omphalocele, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencep... ORPHA:945
Omodysplasia 1
Micrognathia, Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Increased fib... OMIM:258315
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Short humerus, Bowing of the long bones, Relative macrocephaly, Osteopenia, ... OMIM:239000
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Microcephaly, Delayed puberty, Clinod... ORPHA:217340
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo... ORPHA:85198
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Short stature, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, A... ORPHA:2491
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Abnormal pelvis bone ossification, Anterior rib puncta... ORPHA:1426
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... OMIM:271510
Gastroschisis
Gastroschisis, Intestinal atresia ORPHA:2368
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi... OMIM:244600
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
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
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Hydroceph... OMIM:314390
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Osteopenia, Brachycephaly, Femoral bowing, Narrow chest, Anteverted ... OMIM:618188
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho... OMIM:216100
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Partial agenesis of the corpus callosum, Cerebral atrophy, Conductive hearing impairme... ORPHA:85179
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... OMIM:225060
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... OMIM:313400
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Large for gestational age, Micrognathia, Short neck, Flexion con... ORPHA:96334
Gorlin Syndrome
Frontal bossing, Vertebral fusion, Arachnodactyly, Palmar pits, Hydrocephalus, Plantar pits, Hemi... ORPHA:377
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Large for gestational age, Micrognathia, Short neck, Hem... OMIM:213980
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Choanal stenosis, Spina... OMIM:218600
Catel-Manzke Syndrome
Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, C... OMIM:616145
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Micromelia, Short neck, Depressed nasal ridge, Abnormal femur morphology, Narr... ORPHA:1842
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Depressed nasal bridge, Microcephaly, Postnatal growth retardation, Hyp... OMIM:241410
Osteogenesis Imperfecta, Type Xv
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... OMIM:615220
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... OMIM:614078
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Osteoarthritis, Abnormality of... ORPHA:429
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Dextrocardia, Craniosynostosis, Micrognathia, Rib fusion, Obesity, Abnormal... ORPHA:261197
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... OMIM:250460
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... OMIM:259450
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta... OMIM:619227
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly OMIM:615984
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose OMIM:300577
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo... OMIM:617974
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... ORPHA:99642
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Atelosteogenesis Type I
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... ORPHA:1190
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp... OMIM:150250
Juberg-Hayward Syndrome
Severe short stature, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphol... ORPHA:2319
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Hartsfield Syndrome
Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/... ORPHA:2117
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Robinow Syndrome
Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Antevert... ORPHA:97360
Branchiootic Syndrome
Branchial fistula, Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, ... ORPHA:52429
Waardenburg Syndrome Type 1
Mandibular prognathia, Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Un... ORPHA:894
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... OMIM:228520
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... OMIM:178110
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Kbg Syndrome
Syndactyly, Vertebral fusion, Anteverted nares, Single transverse palmar crease, Prominent nasal ... OMIM:148050
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... ORPHA:1570
Pierpont Syndrome
Short neck, Brachycephaly, Short palm, Prominent fingertip pads, Prominent subcalcaneal fat pad, ... OMIM:602342
Myotonia With Skeletal Abnormalities And Mental Retardation
Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, ... OMIM:255710
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus, Macrocephaly, Dolichocephaly, Calvarial skull defect ORPHA:1931
Camptodactyly Syndrome, Guadalajara Type 2
Short stature, Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral ... ORPHA:1326
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Short neck, Abnormality of the elbow, Abnormal rib morphology... ORPHA:1486
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Anteverted nares, Narrow nasal ridge, Bulbous nose, Hypoplasia of the brainstem, Choanal stenosis... OMIM:236500
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
Mohr Syndrome
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... OMIM:252100
Pde4D Haploinsufficiency Syndrome
Joint laxity, Short metacarpal, Broad hallux, Accelerated skeletal maturation, Postnatal growth r... ORPHA:439822
Fountain Syndrome
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Midface retrusion, Craniofacial hype... ORPHA:3219
Chromosome Xq21 Deletion Syndrome
Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ... OMIM:303110
Opsismodysplasia
Flat occiput, Hypoplastic vertebral bodies, Narrow chest, Abnormally ossified vertebrae, Depresse... ORPHA:2746
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Microcephaly, Low-set ears, Conductive hearing impairment, Intrauterine g... OMIM:616910
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short stature, Short neck ORPHA:2015
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, D... OMIM:102370
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Inguinal hernia, Spina bifida, Dermatoglyphic ridges abnormal, Small t... OMIM:211960
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Brachycephaly, Femoral bowing, ... OMIM:274000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Un... OMIM:616300
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... OMIM:119580
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... ORPHA:1802
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo... OMIM:184250
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped ... OMIM:309350
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Pectus carinatum, ... OMIM:617796
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Brachycephaly, Thoracic kyphosis, Narrow chest, Abnormal bone ossificat... ORPHA:163649
Pallister-Hall Syndrome
Hemivertebrae, Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxi... OMIM:146510
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft upper lip, Cleft palate, Polydactyly, Talipes equin... OMIM:613885
Frontonasal Dysplasia 1
Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypop... OMIM:136760
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormal dental enamel morphology, Sho... ORPHA:2323
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus exc... OMIM:301014
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Chromosome 17P13.1 Deletion Syndrome
Proximal placement of thumb, Short neck, Synophrys, Low anterior hairline, Brachycephaly, Short p... OMIM:613776
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Glenoid fossa hypoplasia, Hemivertebrae, Hip dislocation, Flat acetabular r... OMIM:619345
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... OMIM:602111
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... ORPHA:313892
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly... OMIM:241800
Ulna Metaphyseal Dysplasia Syndrome
Short stature, Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morpholo... ORPHA:1837
Thanatophoric Dysplasia, Type I
Short neck, Femoral bowing, Narrow chest, Neonatal death, Cloverleaf skull, Small abnormally form... OMIM:187600
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foot polydactyly,... OMIM:614120
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Micrognathia, Thoracolumbar scol... ORPHA:2437
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Turricephaly,... ORPHA:171839
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Anteverted nares, Depressed nasal bridge, Prominent nose, Hydrocephalus, Bulbous nose... ORPHA:2180
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... ORPHA:50815
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... OMIM:256050
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... ORPHA:239
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... OMIM:609166
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... OMIM:184260
Phenobarbital Embryopathy
Unilateral cleft lip, Aplasia/Hypoplasia of fingers, Brachydactyly ORPHA:1919
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... ORPHA:2141
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morp... ORPHA:93283
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Fanconi Anemia, Complementation Group I
Short stature, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical ve... OMIM:609053
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Myelomeningocele, Hydrocep... ORPHA:1914
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Small for gestational age, Mild postnatal growth retardation, Sh... OMIM:101800
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ... OMIM:151210
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Vertebral clefting, Short columella, Short nose, Patchy distortion of ver... OMIM:155050
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Micrognathi... ORPHA:263508
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Craniosynostosis, ... ORPHA:65759
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... OMIM:617926
Cerebrofaciothoracic Dysplasia
Wide nose, Short stature, Short neck, Rib fusion, Brachycephaly, Hemivertebrae, Vertebral segment... ORPHA:1394
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Tapered finger, Pectus excavatum, Microcephaly, Patent ductus arteriosus,... ORPHA:65286
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation, Microcephaly ORPHA:293
Polydactyly-Myopia Syndrome
Postaxial hand polydactyly, Femoral hernia, Inguinal hernia ORPHA:2917
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot ... OMIM:607361
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Microcephaly, Kyphosis,... ORPHA:3121
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Micrognathia, Accelerated skeletal maturation, Knee dislocation, Irregular vertebral endplates, M... OMIM:618363
Coccidioidomycosis
Pericarditis, Osteomyelitis, Eosinophilia, Broad skull, Hydrocephalus, Abnormality of the spleen,... ORPHA:228123
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Adenylosuccinate Lyase Deficiency
Hypointensity of cerebral white matter on MRI, Anteverted nares, Microcephaly, Low-set ears, Shor... ORPHA:46
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defec... ORPHA:280
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Failure to thrive, Depressed nasal bridge, Anteverted nares, Microcephaly, Abnormal Eustachian tu... ORPHA:513456
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi... ORPHA:376
Three M Syndrome 1
Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Spina ... OMIM:273750
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib... OMIM:166210
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microm... ORPHA:440354
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Short stature, ... OMIM:610967
Ruvalcaba Syndrome
Short metacarpal, Short stature, Micromelia, Underdeveloped nasal alae, Microcephaly, Kyphosis, L... OMIM:180870
Thomas Syndrome
Cleft palate, Cleft upper lip ORPHA:3316
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... ORPHA:3016
Non-Distal Duplication 10Q
Frontal bossing, Depressed nasal bridge, Short stature, Micrognathia, Pectus excavatum, Microceph... ORPHA:1695
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Broad nasal tip, Micrognathia, De... ORPHA:166016
Zechi-Ceide Syndrome
Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Short distal phalanx of... OMIM:612916
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Short neck, Bifid nasal tip, Dysplastic corpus callos... OMIM:616854
Acrodysostosis
Micromelia, Accelerated skeletal maturation, Short metatarsal, Depressed nasal ridge, Brachycepha... ORPHA:950
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... ORPHA:75508
Meckel Syndrome, Type 10
Occipital encephalocele, Abnormal pinna morphology, Anencephaly, Cerebellar hypoplasia, Camptodac... OMIM:614175
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft lip ORPHA:2007
Mucolipidosis Type Iii
Short stature, Hyperlordosis, Joint stiffness, Abnormal form of the vertebral bodies, Reduced bon... ORPHA:577
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Depressed nasal bridge, Wide anterior fontanel, Severe postnatal growth retardation,... OMIM:275100
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Atrial sept... OMIM:194190
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Camptodactyly of finger, Microcephaly, Recurrent pneumonia, Optic atrophy, Protrud... ORPHA:1495
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Osteopenia, Sandal gap, Anteverted nares, Short stature, Pectus excavatum, Shor... OMIM:617877
Trisomy 20P
Micrognathia, Short neck, Low anterior hairline, Brachycephaly, Abnormal form of the vertebral bo... ORPHA:261318
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Occipital Horn Syndrome
Persistent open anterior fontanelle, Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pe... OMIM:304150
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Small for gestat... OMIM:616229
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal nasal morphology... ORPHA:2878
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Brachycephaly, Long thorax... OMIM:617925
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Posteriorly rotated ears, Congenital diaphragmatic hernia, B... OMIM:222448
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Sifrim-Hitz-Weiss Syndrome
Short stature, Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, S... OMIM:617159
Maxillonasal Dysplasia
Patchy distortion of vertebrae, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalange... ORPHA:1248
Pelvis-Shoulder Dysplasia
Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth finger distal phalanx clinodacty... ORPHA:2839
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Calvarial skull defect, Spinal dysraphism ORPHA:1114
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Short stature, Cortical sclero... OMIM:122860
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... OMIM:615777
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Short stature, Thoracolumbar scoliosis, Coxa vara... OMIM:601344
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Microc... ORPHA:398156
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Achondrogenesis
Frontal bossing, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Short neck, Ab... ORPHA:932
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Hydrocephalus, Unilambdoid synostos... OMIM:618577
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short stature, Growth delay, Progressive microcephaly, Short nose, Macrot... ORPHA:438178
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
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Depressed ... ORPHA:175
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Short sta... OMIM:607326
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta OMIM:182940
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality o... ORPHA:263463
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... OMIM:258860
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Downturned corners of mouth, Short philtrum, Slender finger, Smooth philtrum OMIM:613192
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Hypertelorism-Microtia-Facial Clefting Syndrome
Severe short stature, Microcephaly, Bifid nasal tip, Microtia, Atresia of the external auditory c... ORPHA:2213
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Leri Pleonosteosis
Severe short stature, Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocatio... ORPHA:2900
Zttk Syndrome
Flexion contracture, Hemivertebrae, Atrial septal defect, Depressed nasal bridge, Short stature, ... OMIM:617140
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Agenesis of corpus callosum, Short stature, Central Y-shaped metacar... OMIM:277170
Brachyolmia Type 2
Platyspondyly, Short stature OMIM:613678
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Pe... OMIM:263750
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatarsal, Advanced ossificati... OMIM:614613
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr... ORPHA:3236
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Frontal bossing, Midface retrusion, Arachnodactyly, Hyperconvex nail, Post... OMIM:619721
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Anophthalmia Plus Syndrome
Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of f... ORPHA:1104
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Brachyce... ORPHA:1514
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Short neck, Femoral bowing, Short metacarpal, Depressed nasa... OMIM:616723
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... ORPHA:2631
Koolen-De Vries Syndrome
Bicuspid aortic valve, Positional foot deformity, Prominent fingertip pads, Atrial septal defect,... OMIM:610443
Ravine Syndrome
Abnormal basal ganglia morphology, Failure to thrive, Abnormal auditory evoked potentials, Decrea... ORPHA:99852
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Long toe, Arachnodactyly, Cleft lip, Cleft palate, Large hands OMIM:300263
Aicardi Syndrome
Anteverted nares, Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Micro... OMIM:304050
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short stature, Hypoplasia of the odontoid process, Small hand, ... ORPHA:85172
Joubert Syndrome 10
Frontal bossing, Postaxial polydactyly, Wide nasal bridge, Macrocephaly, Hirsutism OMIM:300804
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Thrombocytopenia, Death in adolescence, Short long bone, Stillbirth, Sc... OMIM:619751
Mesomelic Dysplasia, Savarirayan Type
Short stature, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal tho... OMIM:605274
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Posteriorly rotated ears, Choanal atresia, Hearing impairment, Microcephaly, Small... OMIM:619148
Lethal Osteosclerotic Bone Dysplasia
Posteriorly rotated ears, Anteverted nares, Microcephaly, Depressed nasal ridge, Low-set ears, In... ORPHA:1832
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Disproportionate short stature, Flared metaphysis, Flattened epiphysis, Femo... ORPHA:93356
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Microcephaly 3, Primary, Autosomal Recessive
Mixed hearing impairment, Short stature, Microcephaly, Prominent nose, Sensorineural hearing impa... OMIM:604804
Treacher Collins Syndrome 4
Conductive hearing impairment, Choanal stenosis, Microcephaly OMIM:618939
Ulbright-Hodes Syndrome
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Short metacarpal, Depressed ... ORPHA:3404
Pseudohypoparathyroidism, Type Ic
Depressed nasal bridge, Short stature, Basal ganglia calcification, Choroid plexus calcification,... OMIM:612462
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... ORPHA:3429
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Abnormal hand morphology, Small hand, Cleft palate OMIM:300261
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine... OMIM:215140
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemiver... ORPHA:2916
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Abn... ORPHA:949
Oculoskeletodental Syndrome
Depressed nasal bridge, Hypercalcemia, Short stature, Dysplastic corpus callosum, Sensorineural h... ORPHA:557003
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
3C Syndrome
Micrognathia, Short neck, Hemivertebrae, Abnormal tricuspid valve morphology, Atrial septal defec... ORPHA:7
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Narrow chest, Pter... ORPHA:1865
Cantú Syndrome
Short neck, Accelerated skeletal maturation, Cardiomegaly, Narrow chest, Broad ribs, Finger synda... ORPHA:1517
Catifa Syndrome
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda... OMIM:618761
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... OMIM:258865
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, Bulbous nose, Cerebral cortical atrophy, EEG with generalized epil... OMIM:617976
Phaver Syndrome
Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Ventricular septal defect,... ORPHA:2876
Hydrolethalus
Low-set, posteriorly rotated ears, Absent septum pellucidum, Hydrocephalus, Anencephaly, Abnormal... ORPHA:2189
Thoracomelic Dysplasia
Hyperlordosis, Short neck, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Cleft palate ORPHA:85273
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly OMIM:615982
Trisomy 18
Low-set, posteriorly rotated ears, Omphalocele, Short stature, Choanal atresia, Spina bifida, Mic... ORPHA:3380
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape... OMIM:271665
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Depressed nasal ridge, Atrial septal defect, Thick nasal alae, Hypoplastic cer... ORPHA:79345
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Inguinal hernia, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long phi... ORPHA:1252
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Noncompaction cardiomyopathy, Short stature, Thrombocytopenia, A... ORPHA:508542
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Mucolipidosis Ii Alpha/Beta
Osteopenia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proces... OMIM:252500
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Anteverted nares, ... ORPHA:582
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... OMIM:617190
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit... OMIM:226900
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... OMIM:613982
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... OMIM:156500
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Prominent nasal bridge, Bicuspid aortic valve, Underdeveloped n... ORPHA:96169
Vertebral Hypersegmentation And Orofacial Anomalies
Pes planus, Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Prominent occiput... OMIM:619122
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bilateral single transverse palmar creases, Bicuspid aortic valve, Proximal pla... ORPHA:1120
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Anteverted nares, Postaxial polydactyly, Micrognathia, Depressed nasal... OMIM:615761
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Grant Syndrome
Joint dislocation, Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Short statu... ORPHA:2097
Cerebrocostomandibular Syndrome
Cerebral calcification, Short stature, Spina bifida, Microcephaly, Conductive hearing impairment,... ORPHA:1393
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Depressed nasal bridge, Flexion co... OMIM:619479
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ... OMIM:612847
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... ORPHA:392
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Kyphosis, Abno... ORPHA:2050
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... OMIM:156230
Burn-Mckeown Syndrome
Inguinal hernia, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Thin vermilion border, Short ... OMIM:608572
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Pes planus, Sacral dimple, Short stature, Prominent nasal bridge, Single transverse... OMIM:613544
Mosaic Trisomy 14
Frontal bossing, Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia,... ORPHA:1703
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Rhizomelia, Depressed nasal bridge, Short stature, Micrognathia, Abnorma... ORPHA:3098
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Round ear ORPHA:1450
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Large for gestational age, Tapered finger, Dysplastic corpus callosum... ORPHA:544488
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Single transverse palmar crease, Narrow chest, Joint laxity, Rhizomelia, A... OMIM:218330
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Cleft palate, Short f... OMIM:607597
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Underdeveloped nasal alae... OMIM:263210
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Retinitis Pigmentosa
Anteverted nares, Sensorineural hearing impairment, Optic atrophy, Wide nasal bridge, Obesity, At... ORPHA:791
Cerebrocostomandibular Syndrome
Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl... OMIM:117650
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... OMIM:200990
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Anteverted nares, Depressed nasal bridge, Ventricul... ORPHA:1458
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... OMIM:619636
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Conductive hearing impairment, Sensorineural hearing impairment, Ne... OMIM:610738
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Otofaciocervical Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Protruding ear, Abnormal antihelix morph... ORPHA:2792
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Micrognathia... OMIM:224410
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Secondary microcephaly, Anteverted nares, Cerebral atrophy OMIM:618497
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap... ORPHA:93307
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Short foot, Wide mouth, Median pseudocleft lip, Clinodactyly of the 5th finger, Umbilical hernia,... OMIM:619758
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Failure to thrive, Inguinal hernia, Posteriorly rotated ears, Anteverted nares, Micr... OMIM:247200
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... ORPHA:189
Autosomal Recessive Amelia
Amelia involving the upper limbs, Non-midline cleft lip, Orofacial cleft, Acromelia of the lower ... ORPHA:1027
Trisomy 8Q
Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Orofacial cleft, Cleft palate, ... ORPHA:1752
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Severe short stature, Failure to thrive in infancy, Rhizomelia, Cra... ORPHA:2645
Aase-Smith Syndrome
Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abn... ORPHA:916
Lateral Meningocele Syndrome
Bicuspid aortic valve, Micrognathia, Short neck, Vertebral fusion, Short stature, Patent ductus a... OMIM:130720
Atelosteogenesis, Type Iii
Cervical kyphosis, Micrognathia, Short neck, Tibial bowing, Knee dislocation, Radial bowing, Rhiz... OMIM:108721
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... OMIM:600987
17P13.3 Microduplication Syndrome
Inguinal hernia, Wide nose, Low-set ears, Hypoplasia of the corpus callosum, Short nose ORPHA:217385
Three M Syndrome 2
Short neck, Pectus carinatum, Intrauterine growth retardation, Scapular winging, Lumbar hyperlord... OMIM:612921
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydactyly... OMIM:263520
Pseudopseudohypoparathyroidism
Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Intrauterine growth retardation ORPHA:79445
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... ORPHA:2475
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... ORPHA:1350
Morquio Syndrome C
Platyspondyly, Severe short stature OMIM:252300
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Acrorenal Syndrome
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... ORPHA:971
Three M Syndrome 3
Small for gestational age, Short stature, Hyperlordosis, Short neck, Increased vertebral height, ... OMIM:614205
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
Fetal Valproate Spectrum Disorder
Omphalocele, Short nose, Depressed nasal ridge ORPHA:1906
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Joint laxity, Anteverted nares, Shor... OMIM:157800
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da... OMIM:617967
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... OMIM:611717
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia, Anteverted nares, Low-set ears OMIM:601163
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Anteverted nares, Single transverse palmar crease, Short stature, Microcephaly, Verte... OMIM:614701
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Secundum atrial septal defect, Flexion contracture, Brachycephaly, Hypo... OMIM:264090
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short stature, Microcephaly, Anosmia, Epiphyseal stippling, Abnormality o... OMIM:302950
Pseudohypoparathyroidism, Type Ia
Depressed nasal bridge, Short stature, Basal ganglia calcification, Choroid plexus calcification,... OMIM:103580
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... OMIM:619131
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Coronal cleft vertebrae, Epiphyse... ORPHA:1952
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Short stature, Abnor... ORPHA:79106
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... OMIM:616007
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Melnick-Needles Syndrome
Bowing of the long bones, Short stature, Delayed cranial suture closure, Coxa valga, Short thorax... ORPHA:2484
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Iniencephaly
Encephalocele, Omphalocele, Rhizomelia, Spina bifida, Congenital diaphragmatic hernia, Myelomenin... ORPHA:63259
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Short stature, Primary microcephaly, Continuous spike and waves during... OMIM:245570
Cooper-Jabs Syndrome
Frontal bossing, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ... ORPHA:1488
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split... ORPHA:2145
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Anteverted nares, Short stature, Pectus excavatum, Hydro... ORPHA:2701
Craniometaphyseal Dysplasia
Depressed nasal bridge, Facial palsy, Sensorineural hearing impairment, Wide nasal bridge, Conduc... ORPHA:1522
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Short neck, Joint laxity, Anteverted nares, Deviation of the 5th toe, Slender toe, ... ORPHA:391408
Aarskog-Scott Syndrome
Lozenge-shaped umbilicus, Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, P... OMIM:305400
Oculomaxillofacial Dysostosis
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... ORPHA:1794
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... ORPHA:508488
Coloboma Of Macula And Skeletal Anomalies
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... OMIM:216800
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Short stature, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Fla... OMIM:271600
Distal Duplication 18Q
Arachnodactyly, Camptodactyly of finger, Anteverted nares, Choanal atresia, Pectus excavatum, Pro... ORPHA:1716
Arthrogryposis, Distal, Type 2A
Joint dislocation, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion cont... OMIM:193700
Smith-Mccort Dysplasia 2
Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho... OMIM:615222
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Short neck, Accelerated skeletal maturation, Vertebral segmentation d... ORPHA:373
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol... ORPHA:2511
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Conductive hearing... OMIM:616726
Distal Monosomy 7Q36
Non-midline cleft lip, Cleft palate, Symphalangism affecting the phalanges of the hand, Wide mout... ORPHA:1636
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... OMIM:613091
Distal Deletion 10Q
Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Shor... ORPHA:96148
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Genu recurvatum, Short stature, Macrocephaly, Reduced bone mineral density, Sle... ORPHA:1185
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft lip, Meningocele, Hip dislocation, Bilateral cleft lip and palate, Tooth agenesis ORPHA:2003
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... OMIM:156550
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate, Holoprosence... ORPHA:2165
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Abno... ORPHA:2378
8P23.1 Microdeletion Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Enlarged thorax, Biparietal narrowing, Atr... ORPHA:251071
C Syndrome
Micromelia, Micrognathia, Dislocated radial head, Short metacarpal, Anteverted nares, Short statu... OMIM:211750
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of... ORPHA:83468
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Frontal bossing, Rhizomelia, Anteverted nares, Micromelia, Dep... ORPHA:93329
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... ORPHA:508498
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Flexion contracture of finger, Small for gestational age, Postnatal growth retardation, Scoliosis... ORPHA:319332
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Abnormal rib morphology... ORPHA:2021
Sponastrime Dysplasia
Aplasia of the nasal bone, Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal wide... ORPHA:93357
Aicardi Syndrome
Block vertebrae, Missing ribs, Microcephaly, Partial agenesis of the corpus callosum, Small hand,... ORPHA:50
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Joint stiffne... OMIM:252605
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Bilateral single transverse palmar creases, Non-midline cleft lip, C... ORPHA:1770
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Narrow nasal bridge, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Short stature, Metata... ORPHA:3082
Geroderma Osteodysplastica
Severe short stature, Recurrent fractures, Vertebral compression fracture, Hip dislocation, Abnor... ORPHA:2078
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... OMIM:215150
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Short stature, Rhizomelia, Hemivertebrae, Vertebral segmentation defect, Narrow... OMIM:617661
Hypocalcemia, Autosomal Dominant 1
Short stature, Basal ganglia calcification, Hypokalemia, Hyperphosphatemia, Increased circulating... OMIM:601198
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Disproportio... ORPHA:583
Bardet-Biedl Syndrome 22
Microcephaly, Postaxial foot polydactyly, Polydactyly, Hypogonadism, Macrocephaly OMIM:617119
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bod... OMIM:619451
Hallermann-Streiff Syndrome
Micrognathia, Metaphyseal widening, Brachycephaly, Sparse hair, Parietal bossing, Spina bifida, H... OMIM:234100
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Osteoglophonic Dysplasia
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... OMIM:166250
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, T lymphocytopeni... ORPHA:508533
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... ORPHA:93296
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft p... OMIM:614815
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Distal Deletion 13Q
Encephalocele, Short stature, Microcephaly, Anencephaly, Optic atrophy, Aplasia/Hypoplasia of the... ORPHA:1590
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Hemivertebrae, Short neck ORPHA:1780
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Short 5th finger, Narro... OMIM:239800
Pentalogy Of Cantrell
Omphalocele, Encephalocele, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Hydroce... ORPHA:1335
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Broad nasal tip, Bifid nasal tip, Parietal foramina, Preaxial polydact... OMIM:603671
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, P... OMIM:227330
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Aqueductal ... ORPHA:3035
Non-Syndromic Metopic Craniosynostosis
Omphalocele, Wide nasal bridge ORPHA:3366
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Diastasis recti, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of... ORPHA:231140
Pelger-Huet Anomaly
Frontal bossing, Depressed nasal bridge, Abnormality of neutrophils, Thrombocytopenia, Hyposegmen... OMIM:169400
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... OMIM:611134
Cleidocranial Dysplasia
Micrognathia, Brachycephaly, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of ... ORPHA:1452
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short... OMIM:619698
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact... ORPHA:1788
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Slender nose, Microcephaly, Postnatal growth retardati... OMIM:615419
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Turricephaly, Single transverse palmar crease, Underdeveloped na... OMIM:601224
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
1P36 Deletion Syndrome
Abnormality of the spleen, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finger, ... ORPHA:1606
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight, Growth delay, Anemia OMIM:614450
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e... ORPHA:1784
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Short stature, Coxa valga, Micrognathia, Microcephaly, Hydrocephalus, Pla... OMIM:619833
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, Anencephaly,... OMIM:612284
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Depressed nasal bridge, Anteverted nares, Underfolded helix, Prominent nose, Posteri... OMIM:618316
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... OMIM:618150
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Ramon Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Failure to thrive, Abnormal dent... ORPHA:3019
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Microcephaly, Hyperlordosis, Kyphosis, Achilles tendon contr... OMIM:606612
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Short... ORPHA:163654
Triploidy
Omphalocele, Finger syndactyly, Intestinal malrotation, Non-midline cleft lip, Hydrocephalus, Men... ORPHA:3376
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Clinodactyl... OMIM:268305
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Pectus carinatum, Hypoplas... ORPHA:958
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Short stature, Abnormal thumb morpholog... ORPHA:1597
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micromelia, Micrognathia, Short neck, Metaphyseal widening, Narrow greater sciatic notch, Narrow ... OMIM:224400
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Sensorineural hearing impairment, Elevated circulating creatine ki... OMIM:619473
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Posteriorly rotated ears, Short stature, Bulbous nose, Wide nasal bridge, Growt... OMIM:613604
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Cerebral calcification, Short stature, Abnormal antihelix morphology, Delayed puberty, Conductive... ORPHA:3145
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Pallister-Hall Syndrome
Large for gestational age, Depressed nasal ridge, Hemivertebrae, Holoprosencephaly, Atrial septal... ORPHA:672
Smith-Kingsmore Syndrome
Frontal bossing, Rhizomelia, Depressed nasal bridge, Large for gestational age, Short proximal ph... OMIM:616638
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Microcephaly, Underdeveloped nasal alae OMIM:601355
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Short neck, Short statur... OMIM:619859
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Short thorax, Genu valgum, Reduced bone mineral density, Short nose, Spina ... ORPHA:2983
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Occipital encephalocele, Omphalocele, Congenital diaphragmatic... ORPHA:887
Caudal Duplication
Spina bifida, Cryptorchidism, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal ... ORPHA:1756
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short th... OMIM:600325
Oculoauriculovertebral Spectrum With Radial Defects
Short stature, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormal... ORPHA:2549
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Anteverted nares, Sensorineural hearing impairment, Depressed nasal ridge, Thick corpus callosum,... OMIM:618672
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Micrognathia, Short neck, Depressed nasal ridge... OMIM:608022
Microphthalmia, Syndromic 3
Frontal bossing, Vertebral fusion, Ventricular septal defect, Short stature, Missing ribs, Microc... OMIM:206900
Acrofacial Dysostosis, Catania Type
Single transverse palmar crease, Microcephaly, Carious teeth, Cryptorchidism, Widow's peak, Short... OMIM:101805
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... OMIM:617952
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Simpson-Golabi-Behmel Syndrome, Type 1
Accelerated skeletal maturation, Pectus carinatum, Vertebral segmentation defect, Narrow greater ... OMIM:312870
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Carpenter Syndrome 1
Omphalocele, Depressed nasal bridge, Abnormal pinna morphology, Short stature, Sensorineural hear... OMIM:201000
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Thrombo... OMIM:194350
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Childhood-onset short-trunk short stature, Proximal fe... OMIM:113500
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Micrognathia, ... OMIM:616038
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Micrognathia, Synophrys, Brachycephaly, Anteverted nares, Depressed nasal bridge, H... OMIM:613792
Aural Atresia, Congenital
Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... ORPHA:2751
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkerato... OMIM:601812
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Small for gestational age, Short stature, Prominent nose, Microcephaly, Postnatal gr... OMIM:609625
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Abnormality of the hand, Short nec... ORPHA:369891
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Phocomelia, A... OMIM:268300
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Severe short stature, Joint stiffness, Talipes, Coxa valga, Me... ORPHA:2557
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Bilateral single transverse palmar creases, Short stature, ... ORPHA:1786
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Anteverted nares, Posteriorly rotated ears, Short stature, Broad nas... OMIM:618529
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... ORPHA:474
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft upper lip, Cleft palate, Tooth agenesis, Ectrodactyly, Clinodactyly OMIM:147950
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia OMIM:241520
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Reduced cerebral white matter volume, Bulbous nose, Cerebral atrophy, Hypoplasi... OMIM:616420
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... OMIM:174300
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Depressed nasal bridge, Microcephaly, Short neck, Kyphosis, Delayed skeletal mat... OMIM:608776
Pai Syndrome
Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula ORPHA:1993
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Johnson Neuroectodermal Syndrome
Severe short stature, Choanal atresia, Facial palsy, Microcephaly, Bulbous nose, Anosmia, Protrud... ORPHA:2316
Stickler Syndrome Type 1
Osteoarthritis, Mitral valve prolapse, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis ... ORPHA:90653
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Edema of the dorsum of feet, Tapered finger, Microcephaly, Delayed skeletal ... ORPHA:544503
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Arachnodactyly, Overlapping toe, Postnatal growth retardation, Contracture of the... ORPHA:83617
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Microcephaly, Aspleni... ORPHA:99776
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Ankle flexion contracture, Microcephaly, Cerebral atrophy, Progressive mi... OMIM:617802
Rhiny
Short nose, Anteverted nares, Inguinal hernia OMIM:180360
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Small for gestational age, Posteriorly rotated ears, Short stature, Decreased bo... OMIM:618392
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... OMIM:225790
Trigonocephaly 1
Omphalocele, Short nose, Wide nasal bridge, Microcephaly OMIM:190440
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus excavatum, Kyphosis,... OMIM:616294
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Choanal... ORPHA:83
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... OMIM:101200
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Zechi-Ceide Syndrome
Wide nose, Cerebellar vermis hypoplasia, Wide nasal bridge, Abnormal earlobe morphology, Microtia... ORPHA:217017
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Short stature OMIM:601076
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol... ORPHA:233
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Deep philtrum,... OMIM:612530
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Depressed nasal bridge, Congenital diaphragmatic hernia, Hydrocepha... OMIM:616546
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Thrombocytopenia, Neutropenia, Multiple cafe-au-lait spo... OMIM:614082
Distal Duplication 15Q
Omphalocele, Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Intrauterine growth r... ORPHA:1707
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Cerebral calcification, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Choanal atresia, Hydrocephalus, Optic atrophy, Conductive h... ORPHA:93262
Multiple Epiphyseal Dysplasia Type 5
Back pain, Abnormal upper limb epiphysis morphology, Multiple small vertebral fractures, Delayed ... ORPHA:93311
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, Co... OMIM:618774
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal vertebral morpholo... ORPHA:93473
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... ORPHA:536467
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finger, Atri... OMIM:607872
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Depressed nasal ridge, Communicating hydrocephalus, Short stature ORPHA:1861
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Short stature, Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Ab... ORPHA:3218
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario... OMIM:617102
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, Micrognathia, Kyphosis, Scoliosis, Delayed puberty, Short nose, Anemia ORPHA:2598
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Depressed nasal bridge, Anteverted... OMIM:618454
Lateral Meningocele Syndrome
Inguinal hernia, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural ... ORPHA:2789
Cohen Syndrome
Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short metatarsal, Leukopenia, ... OMIM:216550
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Sh... ORPHA:436
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foo... OMIM:617405
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Frontal bossing, Depressed nasal bridge, Tapered finger, Short neck, Wide n... OMIM:607131
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Frontal bossing, Depressed nasal bridge, Sandal gap, Tapered finger, Accelerated skeletal maturat... OMIM:618430
Anauxetic Dysplasia 3
Femoral bowing, Narrow chest, Trident hand, Short metacarpal, Depressed nasal bridge, Thoracolumb... OMIM:618853
Crouzon Syndrome
Choanal atresia, Hydrocephalus, Optic atrophy, Conjunctivitis, Cerebellar hypoplasia, Conductive ... ORPHA:207
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... ORPHA:63260
Nail-Patella Syndrome
Ridged nail, Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horn... OMIM:161200
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft palate, Finger joint hypermobility, Cleft upper lip OMIM:244200
Harel-Yoon Syndrome
Frontal bossing, Micrognathia, Talipes equinovalgus, Pectus carinatum, Hypertrophic cardiomyopath... OMIM:617183
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Optic nerve hypoplasia, Broad nasal tip, Hypoplasia o... OMIM:620155
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion... OMIM:618618
Dermotrichic Syndrome
Aganglionic megacolon, Depressed nasal bridge, Proportionate short stature, EEG abnormality, Shor... ORPHA:99688
Edinburgh Malformation Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Accelerated skeletal maturation... ORPHA:1895
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Diamond-Blackfan Anemia 10
Macrocytic anemia, Posteriorly rotated ears, Choanal atresia, Congenital diaphragmatic hernia, Mo... OMIM:613309
Pseudohypoparathyroidism Type 1A
Calcinosis, Cerebral calcification, Depressed nasal bridge, Short stature, Basal ganglia calcific... ORPHA:79443
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... OMIM:300946
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Waardenburg Syndrome, Type 3
Mandibular prognathia, Scapular winging, Partial albinism, Camptodactyly of finger, Prominent nas... OMIM:148820
Achondrogenesis, Type Ii
Barrel-shaped chest, Microretrognathia, Frontal bossing, Broad long bones, Absent vertebral body ... OMIM:200610
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Mesomelic/rhizom... ORPHA:2347
Dystonia-Deafness Syndrome 1
Cleft palate, Hypoplastic scapulae, Femoral retroversion, Cleft upper lip OMIM:607371
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Recurrent skin infections, Decreased serum iron, Broad nasal tip, Overweight, Recurrent upper res... ORPHA:391372
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Moderately sho... ORPHA:157965
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Seckel Syndrome 1
Abnormal finger flexion crease, Single transverse palmar crease, Prominent nose, Micrognathia, Cl... OMIM:210600
Distal Deletion 10P
Non-midline cleft lip, Abnormality of the elbow, Cleft palate, Ectopic anus, Clinodactyly of the ... ORPHA:1580
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Pectus excavatu... OMIM:617137
Clark-Baraitser Syndrome
Depressed nasal bridge, Sandal gap, Anteverted nares, Microcephaly, Obesity, Brachycephaly, Dolic... OMIM:617752
Mycetoma
Back pain, Abnormality of the knee, Osteomyelitis, Abnormal thorax morphology, Osteoporosis, Abno... ORPHA:2583
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Sandal gap, Single transverse palmar crease, Depressed na... OMIM:617061
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e... OMIM:271640
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Short stature OMIM:132450
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Blomstrand Lethal Chondrodysplasia
Micrognathia, Accelerated skeletal maturation, Narrow chest, Neonatal short-limb short stature, D... ORPHA:50945
Isolated Hemihyperplasia
Inguinal hernia, Myelomeningocele, Abnormality of the dentition ORPHA:2128
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hydrocephalus, Hypopigmented ... ORPHA:53271
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene... ORPHA:93360
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hyp... OMIM:609325
Hypophosphatasia, Infantile
Death in infancy, Micromelia, Bowing of the legs, Craniosynostosis, Vertebral clefting, Increased... OMIM:241500
Phocomelia, Schinzel Type
Micromelia, Micrognathia, Short neck, Abnormal tibia morphology, Foot oligodactyly, Radial bowing... ORPHA:2879
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Rocker bottom foot, Trigonocephaly, Microcephaly, Ventricular septal defect, Cl... OMIM:618506
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... OMIM:614732
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Microcephaly, Delayed skeletal maturation, Abnormal rib morphology, Abnorma... ORPHA:2643
Waardenburg Syndrome, Type 1
Mandibular prognathia, White eyelashes, Partial albinism, White eyebrow, Spina bifida, Underdevel... OMIM:193500
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Patent ductus ar... ORPHA:261120
Campomelic Dysplasia
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Tetrasomy 5P
Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Pectus excavatum, Long fingers, Hy... ORPHA:3309
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Irregular vertebral endplates, Short phalanx of finger, Dislocated radial head, Joint... OMIM:612350
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft palate, Cleft upper lip ORPHA:398189
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... OMIM:210720
Lathosterolosis
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Ta... ORPHA:46059
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Brachycephaly, Femoral bowing, Choanal stenosis, Narrow chest, Abnormality o... ORPHA:95699
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Autoimmune Hypoparathyroidism
Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic ... ORPHA:36913
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of ... ORPHA:73230
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Sensorine... ORPHA:1529
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Depressed nasal bridge, Talipes, Short stature, Micrognathia, Short neck... OMIM:300990
Omphalocele
Omphalocele ORPHA:660
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones... OMIM:620269
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl... ORPHA:246
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... OMIM:300244
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Flat occiput, Anteverted nares, Overlapping toe, Delayed skeletal maturation... OMIM:619383
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Depressed nasal bridge, Short stature, Broad nasal tip, Low-set ears, C... OMIM:617808
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... ORPHA:93317
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cervical C5/C6 vertebrae fusi... ORPHA:87
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Depressed nasal bridge, Hydrocephalus, Progressive macrocephaly, Polydactyly, Leukemia OMIM:602501
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Micr... ORPHA:536471
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Truncus arteriosus, Prominent nasal bridge,... ORPHA:401935
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... OMIM:610915
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Baraitser-Winter Syndrome 1
Anteverted nares, Bicuspid aortic valve, Short stature, Microcephaly, Short neck, Postnatal growt... OMIM:243310
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Mesomelic Dysplasia, Nievergelt Type
Micromelia, Abnormal tibia morphology, Brachycephaly, Clinodactyly of the 5th finger, Abnormality... ORPHA:2633
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ... ORPHA:3027
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short metacarpal, Short stature, Underdeveloped nasal alae, Avascular necrosis of the... OMIM:190351
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Small hand, Obesity, Short foot, Scoliosis, Intrauterine growth ret... ORPHA:254531
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Diamond-Blackfan Anemia 6
Cleft upper lip, Short thumb, Cleft palate, Triphalangeal thumb, Bifid uvula OMIM:612561
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Posteriorly rotated ears, Abnormal pinna morphology, Splenomegaly, ... OMIM:269860
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Richieri Costa-Da Silva Syndrome
Joint dislocation, Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of ... ORPHA:3101
Genitopalatocardiac Syndrome
Cleft palate, Cleft upper lip OMIM:231060
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Calvarial osteosclerosis, Anteverted nares, Depressed nasal bridge, Short stature, ... OMIM:616331
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Papilledema, Severe short stature, Small for gestational age, Short s... OMIM:127000
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Femoral bowing, Pectus... OMIM:609220
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hemivertebrae, Atrial septal defect, Lumbar hyperlordosis, Arachnodactyly, Depressed nasal bridge... ORPHA:500150
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Failure to thrive OMIM:614688
Opitz-Kaveggia Syndrome
Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad... OMIM:305450
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Microg... ORPHA:2083
Braddock Syndrome
Short stature, Short neck, Pectus excavatum, Missing ribs, Preaxial hand polydactyly, Hemivertebr... ORPHA:52047
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... ORPHA:69085
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... OMIM:144750
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness OMIM:252920
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Femoral bo... OMIM:304120
Shwachman-Diamond Syndrome 1
Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... OMIM:260400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Tapered finger, Clef... OMIM:239300
Maternal Uniparental Disomy Of Chromosome 6
Slender long bone, Inguinal hernia, Cleft palate, Cleft upper lip ORPHA:96181
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... OMIM:617201
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin upper lip vermilion, Tented upper lip vermilion, Rocker bottom foot, Single transverse palma... OMIM:618622
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Restrictive cardiom... OMIM:615398
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis OMIM:618155
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... ORPHA:2496
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Spina bifida occulta, Abnormal digit morp... OMIM:268850
Monosomy 9Q22.3
Large for gestational age, Palmar pits, Pectus excavatum, Hydrocephalus, Plantar pits, Abnormal r... ORPHA:77301
Hogue-Janssen Syndrome 2
Broad hallux, Anteverted nares, Postaxial polydactyly, Microcephaly, Abnormal hair whorl, Hydroce... OMIM:616362
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Broad columella, ... ORPHA:2308
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Flat occiput, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing, Clin... ORPHA:251028
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Congenital malformation of the left heart, Hypoplastic vertebral bodies, Agenesis of ... ORPHA:3455
Trisomy 1Q
Omphalocele, Wide nose, Depressed nasal bridge, Camptodactyly of finger, Congenital diaphragmatic... ORPHA:261344
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... OMIM:602535
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... OMIM:614091
Albers-Schönberg Osteopetrosis
Joint dislocation, Frontal bossing, Abnormal leukocyte morphology, Osteomyelitis, Short stature, ... ORPHA:53
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:313850
Intellectual Developmental Disorder, Autosomal Dominant 1
Prominent nose, Micrognathia, Depressed nasal ridge, Brachycephaly, Hemivertebrae, Short palm, Cl... OMIM:156200
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Coarse metaphyseal trabecularization, Short stature, Osteomalacia, Recurrent f... ORPHA:93160
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... ORPHA:1234
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Delayed skeletal ... OMIM:617604
Brachydactyly Type E
Frontal bossing, Short metacarpal, Short stature, Aplasia/Hypoplasia of the distal phalanx of the... ORPHA:93387
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Rhinitis, Conductive hearing impairment, Chronic sinusitis, Chronic otitis media OMIM:618063
Perlman Syndrome
Inguinal hernia, Anteverted nares, Posteriorly rotated ears, Femoral hernia, Wide nasal bridge, L... ORPHA:2849
Peho-Like Syndrome
Short nose, Progressive microcephaly, Tapered finger OMIM:617507
Pseudodiastrophic Dysplasia
Omphalocele, Rhizomelia ORPHA:85174
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... OMIM:253220
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, ... ORPHA:1225
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Bartsocas-Papas Syndrome 1
Hypoplastic iliac wing, Short phalanx of finger, Inferiorly positioned umbilicus, Syndactyly, Sho... OMIM:263650
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Posteriorly rotated ears, Short stature, Congenital diaphragmatic hernia, Micr... OMIM:300887
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Absent frontal sinuses, Hemivertebrae, Anteverted nares, Depressed nasal bridge, Tapered finger, ... OMIM:301040
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Short stature, Hypoplasia of the pons, Sensorineural he... OMIM:616430
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Recurrent fractures,... OMIM:600081
Developmental And Epileptic Encephalopathy 89
Omphalocele, Depressed nasal bridge, Anteverted nares, Asymmetry of the ears, EEG with burst supp... OMIM:619124
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Non-midline cleft lip, Hypoplasia of the radius, Cleft palate, W... ORPHA:245
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... ORPHA:94066
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate, Abnormal metacarpal morphology ORPHA:166100
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... OMIM:276820
Chops Syndrome
Short stature, Obesity, Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly OMIM:616368
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Micrognathia, Mic... ORPHA:363528
Xylt1-Cdg
Relative macrocephaly, Pes planus, Joint dislocation, Joint laxity, Short stature, Coxa valga, Mi... ORPHA:370930
Silver-Russell Syndrome Due To A Point Mutation
Relative macrocephaly, Syndactyly, Frontal bossing, Dysmenorrhea, Micrognathia, Cryptorchidism, S... ORPHA:397590
Enlarged Parietal Foramina
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Broad thumb ORPHA:60015
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Small for gestational age, Short stature, Pos... ORPHA:3369
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus hernia, Abnormali... ORPHA:2538
Fetal Trimethadione Syndrome
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Microcephaly, Brachycephaly, Tra... ORPHA:1913
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Microcephaly, Brachycephaly, Genu valgum, Growth delay, P... OMIM:617798
Pseudohypoparathyroidism Type 1C
Calcinosis, Cerebral calcification, Depressed nasal bridge, Short stature, Basal ganglia calcific... ORPHA:79444
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Proportionate short stature, Short neck, Pectus excavatum, ... OMIM:609654
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short stature, Microcephaly, Tapered finger, Lateral ventricle dilata... OMIM:618367
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Accelerated skelet... ORPHA:561
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt... OMIM:619142
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Pes planus, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence o... ORPHA:476126
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ... OMIM:217980
20P13 Microdeletion Syndrome
Finger syndactyly, Prominent nasal bridge, Highly arched eyebrow, Microcephaly, Synophrys, Polyda... ORPHA:313781
Severe X-Linked Intellectual Disability, Gustavson Type
Abnormal pinna morphology, Small for gestational age, Microcephaly, Recurrent upper respiratory t... ORPHA:3078
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Recurrent fractures, Micromelia, Microcephaly, Abnormal rib morphology... ORPHA:2772
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Short neck, Missing ribs, Abnormal rib morphology, Abnorm... ORPHA:1834
Smith-Magenis Syndrome
Hypertriglyceridemia, Depressed nasal bridge, Anteverted nares, Hypercholesterolemia, Microcephal... ORPHA:819
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Short stature, Lateral clavicle hook, Splenomegaly, Postaxial hand pol... OMIM:615630
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Posteriorly rotated ears, Prominent nasal bridge, Short ... OMIM:618885
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Short stature, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal... ORPHA:3068
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Micrognathia, Obesity, Hip dysplasia, Clinodactyly of the 5th f... OMIM:617991
Osteogenesis Imperfecta, Type Xiii
Femoral bowing, Pectus carinatum, Enlarged thorax, Reduced bone mineral density, Dislocated radia... OMIM:614856
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Frontal bossing, Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morpholo... ORPHA:1506
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia, Short stature ORPHA:921
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Meier-Gorlin Syndrome 6
Severe short stature, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Underde... OMIM:616835
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca... OMIM:182212
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Larsen-Like Syndrome
Short stature, Wide anterior fontanel, Recurrent otitis media, Absent nasal bridge, Low-set ears,... OMIM:608545
Mosaic Trisomy 8
Micrognathia, Short neck, Vertebral segmentation defect, Narrow chest, Clinodactyly of the 5th fi... ORPHA:96061
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac win... ORPHA:198
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro... OMIM:154400
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydac... OMIM:617895
20Q11.2 Microduplication Syndrome
Sacral dimple, Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Trigonocephaly,... ORPHA:363659
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Microcephaly, Patent ductus arteriosus, Flexion contracture, Growth d... ORPHA:17
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Scoliosis, Macrocephaly, Short nose ORPHA:2429
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... ORPHA:93346
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Microcytic anemia, Depressed nasal ridge, Conductive hearing impairment, Sm... ORPHA:99843
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Inguinal hernia, Single transverse palmar crease, Thick lower lip vermi... OMIM:618950
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Bilater... OMIM:180849
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures... OMIM:610968
Microcephaly-Capillary Malformation Syndrome
Wide nose, Small for gestational age, Short stature, Optic atrophy, Simplified gyral pattern, Cer... OMIM:614261
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Abnormality of skin pigmentation, Leukopenia, Triphalang... ORPHA:84
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Asplenia, Dextrotransposition of t... OMIM:306955
Pseudohypoparathyroidism Type 1B
Calcinosis, Depressed nasal bridge, Short stature, Hyperphosphatemia, Conjunctivitis, Hypocalcemi... ORPHA:94089
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, High, narrow palate, Supernumerary tooth, Small hand, Oligodontia, Unilateral ... ORPHA:1787
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Frontal bossing, Tapered finger, Micrognathia, Short neck, Partial agenesis of the corpus callosu... OMIM:620250
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Micromelia, Short neck, Adducted thumb, Secondary microcephaly, Short nose, Fai... ORPHA:50810
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Abnormality of the vertebral endplates, Fractures ... OMIM:166600
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Temple Syndrome
Short stature, Small for gestational age, Postnatal growth retardation, Small hand, Obesity, Shor... ORPHA:254516
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Short stature, Microcephaly, Hydrocephalus, Short nose,... OMIM:300558
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Depressed nasal ridge,... ORPHA:1355
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... OMIM:113650
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, External ear ... ORPHA:254346
Renpenning Syndrome
Severe short stature, Cachexia, Prominent nose, Pectus excavatum, Abnormal thumb morphology, Micr... ORPHA:3242
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis recti, Splenome... OMIM:608149
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Microcephaly, Postnatal growth retardation, T... ORPHA:93324
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Highly arched eyebrow, Microcepha... OMIM:618142
Jacobsen Syndrome
Flat occiput, Micrognathia, Short neck, Flexion contracture, Holoprosencephaly, Atrial septal def... OMIM:147791
Cardiospondylocarpofacial Syndrome
Severe short stature, Abnormal form of the vertebral bodies, Short palm, Synostosis of carpal bon... ORPHA:3238
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Long fingers, Flexion contracture, Wide nasal bridge, 2-3 toe syndactyly, Brachyc... OMIM:218000
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D... OMIM:101600
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... OMIM:183900
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Cleft upper lip, Hydr... OMIM:612582
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Epiphyseal stippling, Coarse hair... OMIM:118650
Split-Hand/Foot Malformation 3
Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly OMIM:246560
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Short stature, Microcephaly, Overfolded helix, Microtia, Atres... OMIM:610536
Culler-Jones Syndrome
Cleft palate, Postaxial polydactyly, Cleft upper lip OMIM:615849
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy... OMIM:200980
Diamond-Blackfan Anemia 1
Micrognathia, Short neck, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebr... OMIM:105650
Gm1-Gangliosidosis, Type I
Thickened ribs, Severe short stature, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebra... OMIM:230500
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Hypoplasia of ... OMIM:607014
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Narrow palm, Small hand, Short foot, Abn... ORPHA:177910
Malan Syndrome
Coxa valga, Pectus excavatum, Long fingers, Accelerated skeletal maturation, Scoliosis, Macroceph... OMIM:614753
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... ORPHA:363417
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Syndactyly, Short digit, Death in infancy, Sparse scalp hair, Frontal bossing,... OMIM:615789
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Small for gestational age, Posteriorly rotated ears, Short stature, Wide nasal b... OMIM:314320
Combined Oxidative Phosphorylation Deficiency 55
Depressed nasal bridge, Anteverted nares, Elevated circulating creatine kinase concentration, Mic... OMIM:619743
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Atrial septal defect, Short stature, Kyphoscoliosis, Microcephaly, Patent ductus arte... OMIM:618005
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Microcephaly, Wide nasal bridge, Growth delay, Large earlobe, Short nose, Thin c... OMIM:615716
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Simplified ... OMIM:618828
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... ORPHA:93258
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Obesity, Bell-shaped thorax, Short long bone, Thora... OMIM:615633
Roifman Syndrome
Hip contracture, Biconvex vertebral bodies, Short metacarpal, Short stature, Postnatal growth ret... OMIM:616651
Acrootoocular Syndrome
Small for gestational age, Short stature, Microcephaly, Grayish enamel, Sensorineural hearing imp... ORPHA:2980
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C... OMIM:151050
Weaver Syndrome
Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Accelerated skeletal matu... OMIM:277590
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Deep philtrum, Intestinal malrotation, Orofacial cleft ORPHA:77300
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Meningocele, Patellar hypoplasia, Wide mouth, Talipes equinovaru... ORPHA:1827
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Short stature, Microcephaly, Bulbous nose, Wide nasal bridge, ... ORPHA:502
Osteopetrosis, Autosomal Recessive 1
Frontal bossing, Sandwich appearance of vertebral bodies, Increased bone mineral density, Femur f... OMIM:259700
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Postaxial polydactyly, Short statu... OMIM:615503
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Depressed nasal bridge, Pneumonia, Recurrent upper respiratory tract infections... OMIM:614069
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Short stature, Prominent nasal bridge, Microcephaly, Sensorine... ORPHA:1131
Say Syndrome
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger OMIM:181180
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Depressed nasal bridge, Short stature, Abnormal auditory evoked potentials, Se... OMIM:619260
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Diastasis recti, Large for gestational age, Postnatal gro... ORPHA:254534
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Bilateral cleft lip OMIM:616994
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion OMIM:616898
Pseudotrisomy 13 Syndrome
Omphalocele, Encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe s... OMIM:264480
Non-Functioning Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co... ORPHA:94080
Genitopalatocardiac Syndrome
Postaxial hand polydactyly, Non-midline cleft lip, Hydrocephalus, Cleft palate, Downturned corner... ORPHA:2075
Bruck Syndrome
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... ORPHA:2771
Glycosylphosphatidylinositol Biosynthesis Defect 11
Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia OMIM:616025
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Congenital Heart Defects And Skeletal Malformations Syndrome
Pes planus, Frontal bossing, Atrial septal defect, Arachnodactyly, Sandal gap, Joint hypermobilit... OMIM:617602
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
2Q32Q33 Microdeletion Syndrome
Broad hallux phalanx, Arachnodactyly, Dental crowding, Narrow mouth, Cleft palate, Oligodontia, T... ORPHA:251019
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Arachnodactyly, Brachycephaly... OMIM:615539
Shox-Related Short Stature
Short stature, Micrognathia, Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, ... ORPHA:314795
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Raine Syndrome
Micromelia, Micrognathia, Short neck, Brachycephaly, Choanal stenosis, Neonatal death, Long hallu... OMIM:259775
Focal Dermal Hypoplasia
Narrow nasal bridge, Finger syndactyly, Alopecia, Toe syndactyly, Abnormal palmar dermatoglyphics... ORPHA:2092
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal... OMIM:252600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Prominent nasal bridge, Joint hypermobility, Microcephaly, Long nose, Joint sti... OMIM:619184
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short stature, Short metatarsal, S... ORPHA:93384
Gm1 Gangliosidosis Type 1
Frontal bossing, Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Pectus carinatum, Hypop... ORPHA:79255
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Small for gestational age, Depressed nasal bridge, Anteverted nares, Micrognathia, Mic... OMIM:257300
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Glutamine Deficiency, Congenital
Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridg... OMIM:610015
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Small for gestational age, Broad hallux, Short neck, Postnatal growth re... OMIM:614541
Holoprosencephaly 7
Omphalocele, Flat nasal alae, Alobar holoprosencephaly, Microcephaly, Partial agenesis of the cor... OMIM:610828
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Holoprosencephaly
Congenital diaphragmatic hernia, Abnormality of the spleen, Depressed nasal ridge, Absent nares, ... ORPHA:2162
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... OMIM:617866
3Mc Syndrome 1
Omphalocele, Dental crowding, Single interphalangeal crease of fifth finger, Diastasis recti, Cle... OMIM:257920
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Partial agenesis of the corpus callosum, Osteopathia striata, Craniofacial osteoscl... OMIM:300373
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Genetic Recurrent Myoglobinuria
Myositis, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... OMIM:311200
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Omphalocele, Posteriorly rotated ears, Small for gestational age, Diastasis rec... OMIM:618419
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate ORPHA:217
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Frontal bossing, Overlapping toe, Short stature, Short neck, Pectus excavatum,... OMIM:618571
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Large for gestational age, Coxa v... OMIM:239850
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Short nose, Hearing impairment OMIM:619736
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... OMIM:269150
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Omphalocele, Camptodactyly of finger, Microcephaly, As... OMIM:249000
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Abnormal pinna morphology, Absent septum pellucidum, Abnormal cort... OMIM:236680
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Death in infancy, Anteverted nares, Micrognathia, ... OMIM:619135
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Overriding aorta, Ventricular septal defect, Micrognathia, Short ... OMIM:617022
Roifman Syndrome
Hip contracture, Biconvex vertebral bodies, Epiphyseal dysplasia, Short stature, Postnatal growth... ORPHA:353298
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Wide nasal bridge, Protruding ear, Microtia, Low-set ears, Conductive hearing impairm... OMIM:616367
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Au-Kline Syndrome
Vertebral segmentation defect, Clinodactyly of the 5th finger, Prominent metopic ridge, Thoracolu... OMIM:616580
Oculodentodigital Dysplasia
Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly o... ORPHA:2710
3Mc Syndrome 3
Diastasis recti, Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clin... OMIM:248340
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Osteopenia, Small hypothenar eminence, Wide nose, Arachnodactyly, Joint hyperm... ORPHA:2463
Neu-Laxova Syndrome
Micromelia, Microcephaly, Abnormal eyelash morphology, Abnormal hair morphology, Spina bifida, Mi... ORPHA:2671
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ... ORPHA:2010
Fetal Hydantoin Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Short stature, Microcephaly, Hearin... ORPHA:1912
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Laurin-Sandrow Syndrome
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... OMIM:135750
Radio-Renal Syndrome
Severe short stature, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality ... ORPHA:3015
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Frontal bossing, Decreased hemoglobin concentration, Depressed nasal bridge, Anteverted nares, Un... OMIM:619005
Trichorhinophalangeal Syndrome Type 1
Frontal bossing, Short metacarpal, Short stature, Camptodactyly of finger, Micrognathia, Avascula... ORPHA:77258
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Globus pallidus calcification, Bulbous nose, Wide nasal bridge, Mild short stature, Short nose, M... OMIM:620292
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion ... OMIM:224690
Chromosome 18Q Deletion Syndrome
Inguinal hernia, Depressed nasal bridge, Failure to thrive in infancy, Short stature, Prominent n... OMIM:601808
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Trisomy 9P
Dental crowding, Bilateral single transverse palmar creases, Non-midline cleft lip, Impacted toot... ORPHA:236
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Cardioacrofacial Dysplasia 2
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postaxial hand polydactyly, D... OMIM:619143
Alopecia Antibody Deficiency
Conductive hearing impairment, Short stature ORPHA:1006
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar vermis, Hydrocepha... ORPHA:163961
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cleft upper lip, Split... ORPHA:2008
Bainbridge-Ropers Syndrome
Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finger, Choanal stenos... OMIM:615485
Vitamin D-Dependent Rickets, Type 2A
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, ... OMIM:277440
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Short stature, Dentinogenesis imperfecta, Hearing impairment OMIM:166220
Eiken Syndrome
Delayed epiphyseal ossification, Pseudoepiphyses, Delayed tarsal ossification, Broad ribs, Decrea... OMIM:600002
Chromosome 9P Deletion Syndrome
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Choanal atresia, Posterio... OMIM:158170
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Posteriorly rotated ears, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Cupped ear... OMIM:613870
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Micrognathia, Positional foot deformity, Pectus carinatum, Hypertrophic cardiomyopathy, Hip dyspl... ORPHA:496790
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Micrognathia, Short neck, Flexion contracture, Scapular winging, Wide nasal b... OMIM:620369
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Facial palsy, Sensorineural h... OMIM:614744
Bardet-Biedl Syndrome 16
Hypogonadism, Polydactyly OMIM:615993
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Pectus ex... OMIM:613458
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Preaxial polydactyly, Hypogonadotropic hypogonadism ORPHA:141333
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Short stature, Microcephaly, Low-set ears, Conductive hearing impairment,... OMIM:617412
Abruzzo-Erickson Syndrome
Radioulnar synostosis, Cleft palate OMIM:302905
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... OMIM:226980
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short stature, Microcephaly, Flexion contracture, Optic atrophy, Cerebral atrophy, Lar... OMIM:615851
Cornelia De Lange Syndrome
Micromelia, Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Low anterior hairli... ORPHA:199
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Eczema, Underdeveloped nasal alae, Microcephaly, Congen... ORPHA:1001
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal d... OMIM:256520
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Abnormal cerebral white matter morphology, Low-set ears... OMIM:613443
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, ... OMIM:241530
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Aymé-Gripp Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Prominent metopic ridge, Depressed nasal bridge, S... ORPHA:1272
Cranioectodermal Dysplasia 3
Frontal bossing, Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, S... OMIM:614099
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... ORPHA:52368
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Clef... ORPHA:261236
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Depressed nasal bridge, Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, ... OMIM:119800
Pseudopseudohypoparathyroidism
Short metacarpal, Depressed nasal bridge, Short stature, Short neck, Short metatarsal, Obesity, O... OMIM:612463
Brain Malformations With Or Without Urinary Tract Defects
Inguinal hernia, Anteverted nares, Overfolded helix, Low-set ears, Hypoplasia of the corpus callo... OMIM:613735
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Microcephaly, Short distal phalanx of toe, Atrial septal defect, ... OMIM:619356
Trisomy 8P
Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, ... ORPHA:264450
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Short stature, Postnatal growth retardation, Basal ganglia calcification, Anemia, Gr... ORPHA:93325
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli... ORPHA:1300
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Short stature, Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip... OMIM:300749
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Bilateral single transvers... ORPHA:2639
Limb Body Wall Complex
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,... ORPHA:2369
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... OMIM:119500
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft palate, Cleft upper lip OMIM:300958
Cutis Laxa, Autosomal Recessive, Type Iia
Failure to thrive, Inguinal hernia, Anteverted nares, Lipodystrophy, Microcephaly, Wide anterior ... OMIM:219200
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Dea... ORPHA:800
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis recti, Large fo... ORPHA:254519
Cardiofaciocutaneous Syndrome
Short neck, Biparietal narrowing, Atrial septal defect, Anteverted nares, Abnormal morphology of ... ORPHA:1340
Frank-Ter Haar Syndrome
Osteopenia, Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial... OMIM:249420
Cadds
Cholangitis, Sensorineural hearing impairment, Abnormal cerebral white matter morphology, Increas... ORPHA:369942
Weiss-Kruszka Syndrome
Anteverted nares, Hearing impairment, Cupped ear, Overfolded helix, Protruding ear, Microtia, Low... OMIM:618619
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Sandal gap, Tapered finger, Cleft lip, Narrow mouth, Small hand, Cleft palate, Short foot, Downtu... OMIM:618089
Stickler Syndrome, Type Ii
Arachnodactyly, Long fingers, High, narrow palate, Pierre-Robin sequence, Cleft palate, Bifid uvula OMIM:604841
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft lip, Median cleft lip and palate OMIM:142946
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... OMIM:600920
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment OMIM:615706
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Palmoplantar keratoderma, Nail dyst... ORPHA:79402
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Short stature, Coxa valga, Cubitus valgus, Flared metaphysis, Genu ... OMIM:269300
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Short neck, Short phalanx of finger, Patent foramen ovale,... OMIM:616894
Al-Raqad Syndrome
Joint laxity, Sandal gap, Microcephaly, Atrial septal defect, Short nose, Brachydactyly OMIM:616459
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Broad nasal tip, Short neck, Delayed skeletal maturation, Small hand, Abnormal rib mo... ORPHA:488434
Cleft Velum
Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia ORPHA:99772
Radio-Tartaglia Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Microcephaly, Bulbous nose, Wid... OMIM:619312
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... ORPHA:544254
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Craniosynostosis, Cryptorchidism, Hip dysplasia, Syringomyelia, Polydactyly, Ve... ORPHA:531151
Agnathia-Otocephaly Complex
Wide nose, Holoprosencephaly, Low-set ears, Conductive hearing impairment, Agenesis of corpus cal... OMIM:202650
Kapur-Toriello Syndrome
Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, Intestinal malrotation... OMIM:244300
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Absent thumb, Unilateral radial aplasia, Hypoplas... OMIM:614900
Bardet-Biedl Syndrome 9
Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda... OMIM:615986
Trisomy 10P
Micrognathia, Hemivertebrae, Abnormal hip joint morphology, Anteverted nares, Depressed nasal bri... ORPHA:171929
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Splenomegaly, Cranial hyperostosis, Spinal dysraphism, S... OMIM:612918
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Depressed nasal bridge, Severe short stature, ... OMIM:616482
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Frontal bossing, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Limitation of j... ORPHA:2547
Nicolaides-Baraitser Syndrome
Enlarged joints, Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joi... OMIM:601358
Alkuraya-Kucinskas Syndrome
Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Pericardial effusion, Ab... OMIM:617822
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Failure to thrive, Butterfly vert... OMIM:118450
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Wide anterior fontanel, Sensorineural hearing i... ORPHA:36
Diabetic Embryopathy
Frontal bossing, Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Abnormal sacrum morph... ORPHA:1926
Aase-Smith Syndrome I
Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender finger OMIM:147800
Hennekam-Beemer Syndrome
Wide nose, Short stature, Pneumonia, Camptodactyly of finger, Microcephaly, Long nose, Conductive... ORPHA:2135
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Asplenia, Anosmia, Bronchiectasis, Chron... OMIM:244400
Opitz Gbbb Syndrome
Thin upper lip vermilion, Inguinal hernia, Cleft upper lip, Rectourethral fistula, Cleft palate, ... OMIM:300000
Baker-Gordon Syndrome
Joint laxity, Abnormal foot morphology, Scoliosis, Prominent nasal tip, Short nose OMIM:618218
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Short stature,... OMIM:242860
Desmosterolosis
Micromelia, Micrognathia, Agenesis of corpus callosum, Increased bone mineral density, Depressed ... ORPHA:35107
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Bilateral single transverse palmar creases, Abnormal dental mo... ORPHA:3253
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Small for gestational age, Short stature, EEG with multifocal slow acti... ORPHA:289266
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Severe short stature, Distal clavicular thinning, Bell-shaped thorax, Trapezoid... OMIM:600092
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Prominent nose, Coxa vara, Hypoplastic iliac wing, Atrial septal defect, Clinodactyly... ORPHA:2637
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Small n... OMIM:615631
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib... ORPHA:1318
Roifman-Chitayat Syndrome
Osteopenia, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal, Wide nasal br... OMIM:613328
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, Short neck, Hemivertebrae, Coxa vara, Pectus carinatum, Abnormal form o... ORPHA:3107
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Sacral dimple, Hyperextensibility at elbow, Rhizomelia, Short sta... ORPHA:319182
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... OMIM:164900
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Micrognathia, Congenital contracture, Secondary microcephaly, Scoliosis, Short ... OMIM:615042
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick cerebral cortex, Failure to thrive, Anteverted nares, Inguinal hernia, Lipodystrophy, Broad... ORPHA:357074
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Obesity, Macrocephaly, Short nose OMIM:613670
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Pectus carinatum, Thick... OMIM:303600
Rapp-Hodgkin Syndrome
Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar... OMIM:129400
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone-shaped epiphys... OMIM:190350
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Severe short stature, Hypercalcemia, Choanal atresia, Knee flexion contracture, ... OMIM:156400
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Failure to thrive, Inguinal hernia, Anteverted nares, Short ... OMIM:613026
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis,... ORPHA:1297
Macrocephaly-Intellectual Disability-Autism Syndrome
Frontal bossing, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Macrocephal... ORPHA:210548
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Conductive hearing impairment... ORPHA:443811
Naxos Disease
Palmoplantar keratoderma, Cleft upper lip ORPHA:34217
Brachydactyly-Preaxial Hallux Varus Syndrome
Frontal bossing, Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Sho... ORPHA:1278
Otofaciocervical Syndrome 1
Mixed hearing impairment, Hypoplasia of the cochlea, Cupped ear, Conductive hearing impairment, N... OMIM:166780
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis recti, Postnata... ORPHA:254528
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Anteverted nares, Posteriorly rotated ears, Congenital diaphragmati... ORPHA:2745
Mosaic Trisomy 1
Omphalocele, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Depressed nasal bridge, Con... ORPHA:1692
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Small for gestational age, Postnatal growth retardation, Small hand, Obesity, Shor... ORPHA:96184
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Prominent nose, Short metatarsal, Short metacarpal, Rhizomelia, Cone-shaped epiphysis... OMIM:614813
Calciphylaxis
Hyperphosphatemia, Cellulitis ORPHA:280062
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Thin cla... OMIM:244460
Specific Granule Deficiency 2
Death in infancy, Absent neutrophil specific granules, Sandal gap, Thrombocytopenia, Neutropenia,... OMIM:617475
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse palmar crease, Ant... OMIM:244450
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, ... OMIM:264700
Split Cord Malformation
Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Tufte... ORPHA:573278
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... ORPHA:435638
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Pectus carinatum, ... OMIM:115150
Myhre Syndrome
Brachydactyly, Inguinal hernia, Femoral hernia, Narrow mouth, Submucous cleft hard palate, Gingiv... ORPHA:2588
16P11.2P12.2 Microdeletion Syndrome
Anteverted nares, Abnormal pinna morphology, Camptodactyly of finger, Short stature, Long nose, B... ORPHA:261211
Waardenburg Syndrome
Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Myelomeningocele, Wide ... ORPHA:3440
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental... ORPHA:2750
Ollier Disease
Micromelia, Joint stiffness, Bone pain, Osteolysis, Platyspondyly, Abnormal metaphysis morphology... ORPHA:296
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Thick nasal alae, Hypopi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Thick nasal alae, Hypopi... ORPHA:363958
Marinesco-Sjogren Syndrome
Pes planus, Short metacarpal, Short stature, Coxa valga, Microcephaly, Kyphosis, Flexion contract... OMIM:248800
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Stenosis of the exter... OMIM:249620
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hyperconvex fingernails, Sparse hair, Abnormal vertebral morphology, Abnormality of the nail, Abs... ORPHA:2273
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Depressed nasal bridge, Ventricular s... ORPHA:2256
Tenosynovial Giant Cell Tumor
Conductive hearing impairment, Abnormality of the tympanic membrane, Chondrocalcinosis, Abnormali... ORPHA:66627
Tetrasomy 18P
Large hands, Scoliosis, Short nose, Microcephaly ORPHA:3307
Bohring-Opitz Syndrome
Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Intestinal mal... OMIM:605039
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t... OMIM:212780
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, High, narrow palate, Do... OMIM:122470
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Atrial septal defect, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Abnormal h... ORPHA:485405
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... ORPHA:398063
Down Syndrome
Joint laxity, Brachydactyly, Sandal gap, Depressed nasal bridge, Short neck, Depressed nasal ridg... ORPHA:870
Lathosterolosis
Toe syndactyly, Anteverted nares, Increased mean platelet volume, Micrognathia, Microcephaly, Lum... OMIM:607330
Vater/Vacterl Association
Occipital encephalocele, Abnormal nasopharynx morphology, Preaxial polydactyly, Abnormal sternum ... OMIM:192350
Joubert Syndrome 37
Frontal bossing, Wide nose, Lumbar hyperlordosis, Anteverted nares, Postaxial polydactyly, Crypto... OMIM:619185
Trisomy 12P
Turricephaly, Short stature, Micrognathia, Short neck, Delayed skeletal maturation, Wide nasal br... ORPHA:1699
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Short stature, Congenital ... OMIM:606164
Khan-Khan-Katsanis Syndrome
Frontal bossing, Sacral dimple, Lymphopenia, Patent ductus arteriosus after premature birth, Shor... OMIM:618460
Zaki Syndrome
Toe syndactyly, Long fingers, Wide mouth, Median pseudocleft lip, Ectrodactyly, High palate, Broa... OMIM:619648
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate ORPHA:2521
Ring Chromosome 13 Syndrome
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Microcephaly, Anencephaly, Wi... ORPHA:96176
Mosaic Variegated Aneuploidy Syndrome 2
Single transverse palmar crease, Micrognathia, Atrial septal defect, Clinodactyly of the 5th fing... OMIM:614114
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Increased circulating ferritin con... ORPHA:3240
Trisomy 13
Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ... ORPHA:3378
Laron Syndrome
Severe short stature, Abnormal joint morphology, Delayed skeletal maturation, Short long bone, Li... OMIM:262500
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... ORPHA:85170
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Skin rash, Abnormal auditory evoked potentials, ... OMIM:617523
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Abnormal T cell morphology, Thoracic kyphosis, Lateral displacement of th... OMIM:242900
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia ORPHA:1200
Geleophysic Dysplasia 2
Mitral stenosis, Ovoid vertebral bodies, Tricuspid stenosis, Joint stiffness, Short stature, Dela... OMIM:614185
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Highly arched eyebrow, Micrognat... ORPHA:404440
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Microcephaly, Synophrys, Piebaldism, Hy... ORPHA:2884
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia OMIM:613630
Prader-Willi Syndrome Due To Translocation
Flat occiput, Prominent nose, Micrognathia, Short neck, Clinodactyly of the 5th finger, Patent fo... ORPHA:177907
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Absent septum pellucidum, Small for gestational age, Microcephaly, Sensor... OMIM:618500
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Microcephaly, Postaxial hand polydactyly, Narrow chest, Trigonoceph... ORPHA:1702
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Short nose, Convex nasal ridge, Microcephaly OMIM:200130
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t... ORPHA:3103
Fanconi Anemia, Complementation Group S
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Microcephaly, Underdevelop... OMIM:617883
Jaberi-Elahi Syndrome
Depressed nasal bridge, Microcephaly, Joint stiffness, Kyphosis, Pectus carinatum, Talipes equino... OMIM:617988
Meckel Syndrome
Encephalocele, Accessory spleen, Low-set, posteriorly rotated ears, Microcephaly, Asplenia, Hydro... ORPHA:564
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Short long... ORPHA:1423
Fryns Syndrome
Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr... ORPHA:2059
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Frontal bossing, Atrial septal defect, Congenital hip dislocation, Bicuspid aortic valve, Ventric... ORPHA:457279
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Anteverted nares, Absent septum pellucidum, Femoral hernia, Microcephaly, Obesit... ORPHA:96147
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Cerebellar hypop... ORPHA:284169
Johanson-Blizzard Syndrome
Short stature, Underdeveloped nasal alae, Microcephaly, Sensorineural hearing impairment, Abnorma... ORPHA:2315
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Sialidosis Type 1
Short stature, Kyphosis, Delayed skeletal maturation, Short thorax, Abnormal form of the vertebra... ORPHA:812
Nephronophthisis 15
Polydactyly OMIM:614845
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Palmo... OMIM:106260
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydroceph... ORPHA:3412
Amish Lethal Microcephaly
Death in infancy, Micrognathia, Spina bifida, Microcephaly ORPHA:99742
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retardation, Postaxial polydactyly, Abno... OMIM:302960
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... OMIM:227270
3Mc Syndrome 2
Diastasis recti, Limited elbow movement, Cleft upper lip, Partial abdominal muscle agenesis, Hip ... OMIM:265050
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Short stature, Rhi... OMIM:610682
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hydrocephal... OMIM:109120
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia... OMIM:615994
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Omphalocele, Microcephaly, Hydrocephalus, Aplas... ORPHA:2166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... OMIM:615287
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c... OMIM:616788
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... OMIM:119600
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Microcephaly, Preaxial hand polydactyly, Short toe, Sy... OMIM:620072
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short stature, Tracheomalacia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal ra... ORPHA:444077
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Cronkhite-Canada Syndrome
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Tapered finger, Hypoplas... ORPHA:2930
Ermine Phenotype
Hypopigmentation of hair, Toe syndactyly, Microcephaly, Abnormality of the nose, Ocular albinism,... ORPHA:999
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Prominent nose, Long nose, Micro... ORPHA:2636
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Short nose, Hearing impairment OMIM:256600
Recombinant 8 Syndrome
Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition, Patellar aplasia, Abnorma... ORPHA:96167
Satoyoshi Syndrome
Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Abnormality o... ORPHA:3130
Braddock-Carey Syndrome 2
Wide mouth, Clinodactyly, Pierre-Robin sequence, Cleft palate OMIM:619981
Fetal Alcohol Syndrome
Anteverted nares, Short stature, Microcephaly, Micrognathia, Joint stiffness, Vertebral segmentat... ORPHA:1915
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Severe short stature, Arachnodactyly, Camptodactyly o... ORPHA:2215
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Clinodactyly, Cleft palate OMIM:614838
Bardet-Biedl Syndrome 8
Hypogonadism, Brachycephaly, Postaxial polydactyly OMIM:615985
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly OMIM:613819
Geleophysic Dysplasia 1
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Mitral stenosis, Coxa valga, P... OMIM:231050
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi... OMIM:600383
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Umbilical hernia, Aplasia/Hypoplasia of the nasal bone, Short stature ORPHA:2095
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Kyphosis, Platyspondyly, Hypopigmentation of the skin ORPHA:2786
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Depressed nasal bridge, Pectus excavatum, Long nose, Hydrocephalus, Slender long bone... OMIM:618590
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis OMIM:601389
Amed Syndrome, Digenic
Acute myeloid leukemia, Hyperpigmentation of the skin, Microcephaly, Thrombocytopenia, Leukopenia... OMIM:619151
Isolated Anencephaly
Omphalocele, Intrauterine growth retardation, Thymus hyperplasia, Congenital diaphragmatic hernia ORPHA:563609
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Craniosynostosis, Micrognathia, Thin ribs, Plagiocephaly, Slender long bone, Decre... OMIM:618265
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia ORPHA:3004
Jackson-Weiss Syndrome
Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Short metatarsal, 2-3 toe sy... ORPHA:1540
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Wide nose, Papilledema, Inguinal hernia, Short stature... ORPHA:580
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Bardet-Biedl Syndrome 19
Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hypogonadism, Hypo... OMIM:615996
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Desmosterolosis
Relative macrocephaly, Frontal bossing, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, M... OMIM:602398
Dent Disease 2
Umbilical hernia, Short stature, Elevated circulating creatine kinase concentration, Hypophosphat... OMIM:300555
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Abnormali... ORPHA:3186
Frontorhiny
Encephalocele, Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, A... ORPHA:391474
Primary Ciliary Dyskinesia
Nasal polyposis, Asplenia, Hydrocephalus, Bronchiectasis, Nasal congestion, Recurrent otitis medi... ORPHA:244
Distal Deletion 9P
Short neck, Wide nasal bridge, Enlarged thorax, Trigonocephaly, Short nose, Midface retrusion, Br... ORPHA:1642
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fi... OMIM:617527
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Single ... ORPHA:521426
Teebi Hypertelorism Syndrome 1
Omphalocele, Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Short nose OMIM:145420
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,... ORPHA:3265
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Kinsship Syndrome
Osteopenia, Single transverse palmar crease, Micrognathia, Short neck, Dislocated radial head, De... OMIM:619297
Oculodentodigital Dysplasia
Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 finger syndactyly, Pre... OMIM:164200
Toriello-Carey Syndrome
Short stature, Micrognathia, Microcephaly, Short neck, Patent ductus arteriosus, Partial agenesis... ORPHA:3338
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Wide nose, Papilledema, Inguinal hernia, Camptodactyly of finger, Short stature, Sp... ORPHA:217093
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... OMIM:180700
Micro Syndrome
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares, Short stature,... ORPHA:2510
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus, Cardiomegaly OMIM:620306
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Frontal bossing, Turricephaly, Sacral dimple, Tapered finger, Microcephaly, Hy... OMIM:613603
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Phakomatosis Pigmentokeratotica
Spina bifida, Cryptorchidism, Melanocytic nevus, Patchy alopecia, Hemiatrophy, Scoliosis ORPHA:2874
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Micrognathia, Short neck, Tibial bowing, Choanal stenosis, Broad ri... ORPHA:798
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Tented upper lip vermilion, Cleft upper lip, Long fingers, Cleft palate, Thin ve... OMIM:614294
Warburg Micro Syndrome 3
Kyphoscoliosis, Micrognathia, Microcephaly, Postnatal growth retardation, Flexion contracture, Br... OMIM:614222
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod... OMIM:305600
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Frontal bossing, Anteverted nares, Broad hallux, Single transverse palmar crease, Depressed nasal... OMIM:614105
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Frontal bossing, Short stature, Osteomalacia, Bowing of the legs, O... OMIM:307800
Monosomy 9P
Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Choanal atresia, Abnormali... ORPHA:261112
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Microcephaly, Anemia, Leukopenia, Microtia, Conductive hearing impairme... OMIM:603467
Craniometaphyseal Dysplasia, Autosomal Recessive
Abnormal nasopharynx morphology, Mixed hearing impairment, Facial palsy, Optic atrophy, Wide nasa... OMIM:218400
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... OMIM:252940
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Lo... OMIM:615866
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Pneumonia, Glomerulonephritis, Leukocytosis, Elevated circulating creatinine concentra... ORPHA:340
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Saethre-Chotzen Syndrome
Depressed nasal bridge, Prominent nasal bridge, Short stature, Prominent crus of helix, External ... ORPHA:794
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Wide nose, Short stature, Micrognathia, Short neck, Secundum atrial septal defe... OMIM:608779
Coffin-Siris Syndrome
Atrial septal defect, Thick nasal alae, Agenesis of corpus callosum, Joint laxity, Depressed nasa... ORPHA:1465
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wid... OMIM:207410
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, K... OMIM:231070
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Inguinal hernia, High palate, Cleft palate ORPHA:1135
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Underdeveloped nasal alae, He... ORPHA:2031
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Inguinal hernia, Thickened helices, Adenoiditis, Abnormality of the mid... ORPHA:581
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal occipital bone morphology, Abnormal tibia morphology, Bone... ORPHA:249
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Narrow nasal ridge, Micrognathia, Flexion contracture, Growth delay, Pr... OMIM:608612
Ablepharon Macrostomia Syndrome
Omphalocele, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Underdeveloped na... ORPHA:920
Sclerosteosis 1
Syndactyly, Frontal bossing, Depressed nasal bridge, Sclerotic scapulae, Broad clavicles, 2-3 fin... OMIM:269500
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus, Solitary med... OMIM:147250
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L... ORPHA:2211
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Synostosis of ca... ORPHA:221120
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Allergic rhinitis,... OMIM:615816
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Micromelia, Hepatosplenomegaly OMIM:273680
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Cerebral calcification, Hypercalcemia, Hyperphosphatemia OMIM:617994
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Proboscis,... OMIM:605627
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Atresia of the external auditory canal, Camptodactyly, Conductive hearing impairment, Ste... OMIM:608257
Jung Syndrome
Abnormal form of the vertebral bodies ORPHA:2321
17Q24.2 Microdeletion Syndrome
Otosclerosis, Failure to thrive in infancy, Wide nasal bridge, Truncal obesity, Microtia, Recurre... ORPHA:529962
Acrocephalopolydactylous Dysplasia
Omphalocele, Abnormal pinna morphology, Low-set ears, Polysplenia, Short nose OMIM:200995
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Prominent nasal bridge, Craniosynostosis, Abse... ORPHA:96097
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Recurrent joint dislocation, Abnormal heart valve morphology, Decreased palmar... ORPHA:2953
Momo Syndrome
Frontal bossing, Short stature, Large for gestational age, Short neck, Obesity, Brachycephaly, Fe... ORPHA:2563
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Anteverted nares, Hydrocephalus, Polydactyly, Macrocephaly,... ORPHA:59315
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Wide nose, Microcephaly, Pectus excavatum, Short neck, Metaphyseal widening, Fl... OMIM:617303
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Abnormal metacarpophalangeal joint morphology, Mild postnatal grow... ORPHA:85408
Mosaic Trisomy 16
Syndactyly, Abnormality of the cervical spine, Small for gestational age, Single transverse palma... ORPHA:1708
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Tapered finger, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Short neck... OMIM:615803
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Van Maldergem Syndrome 2
Inguinal hernia, Depressed nasal bridge, Wide anterior fontanel, Sensorineural hearing impairment... OMIM:615546
Gomez-Lopez-Hernandez Syndrome
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Anteverted nares, Agenesis of cerebellar ... OMIM:601853
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Micrognathia, Short neck, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin... OMIM:266920
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Bone pain, Oste... ORPHA:324964
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Microcephaly, Bulbous nose, Protruding ear, Growth delay, Abnormal antihe... ORPHA:261144
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... OMIM:243150
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Microcephaly, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalang... OMIM:614207
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Wide nose, Papilledema, Inguinal hernia, Camptodactyly of finger, Short stature, Sp... ORPHA:217085
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Sacral dimple, Depressed nasal bridge, Ventricular septal defect, Short sta... OMIM:301030
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Arachnodactyly, Pectus excavatum, Increased vertebral height, Scoliosis, Camptodactyly, Camptodac... OMIM:610474
Osteogenesis Imperfecta, Type I
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment OMIM:166200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Enamel hypoplasia, Hyperphosphatemia OMIM:211900
Carey-Fineman-Ziter Syndrome
Anteverted nares, Short stature, Micrognathia, Microcephaly, Aplasia of the pectoralis major musc... ORPHA:1358
Vitamin D-Dependent Rickets, Type 3
Growth delay, Hypocalcemia, Hypophosphatemia OMIM:619073
Warburg Micro Syndrome 2
Prominent nasal bridge, Asymmetry of the ears, Microcephaly, Postnatal growth retardation, Macrot... OMIM:614225
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature ORPHA:195
Lowry-Maclean Syndrome
Inguinal hernia, Choanal atresia, Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, A... ORPHA:2409
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... ORPHA:464329
Otosclerosis 10
Otosclerosis OMIM:615589
Fetal Akinesia Deformation Sequence 1
Elbow contracture, Micrognathia, Short neck, Congenital contracture, Wrist flexion contracture, E... OMIM:208150
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fingers,... OMIM:616738
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Down-sloping shoulders, Cleft upper lip, Abnormality of the dentiti... OMIM:304110
Diamond-Blackfan Anemia 8
Macrocytic anemia, Short stature, Wide nasal bridge, Growth delay, Increased mean corpuscular vol... OMIM:612563
Autosomal Dominant Hypocalcemia
Eczema, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Posteriorly rotated ears, Facial palsy, Severe short stature, Wide nasal ... ORPHA:2780
Crouzon Syndrome
Keratitis, Hydrocephalus, Optic atrophy, Conjunctivitis, Atresia of the external auditory canal, ... OMIM:123500
Peho Syndrome
Anteverted nares, Tapered finger, Microcephaly, Hydrocephalus, Flexion contracture, Limitation of... ORPHA:2836
Emanuel Syndrome
Delayed eruption of teeth, Inguinal hernia, Congenital hip dislocation, Dental crowding, Submucou... ORPHA:96170
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Joint contracture, Secondary micro... OMIM:616881
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Neurofibromatosis, Type I
Inguinal freckling, Spina bifida, Aqueductal stenosis, Axillary freckling, Hydrocephalus, Tibial ... OMIM:162200
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... ORPHA:1328
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Tapered finger, Obesity, Short nose, Long hallux OMIM:619854
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Atrial septal defect, Agenesis of corpus callosum, Ante... ORPHA:261323
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Acetabular dysplasia, B... OMIM:201180
Sotos Syndrome
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Partial agen... OMIM:117550
Stickler Syndrome
Joint dislocation, Micrognathia, Osteoarthritis, Depressed nasal ridge, Bone pain, Abnormal form ... ORPHA:828
Unilateral Ocular Duplication
Encephalocele, Median cleft lip, Cleft palate ORPHA:3374
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Abnormal metacarpal morphology, Abnormal no... ORPHA:1295
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Broad hallux, Broad nasal tip, Microcephaly, Wide nasal bridge, Shortening ... OMIM:614749
Nephrotic Syndrome, Type 11
Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High palate, Clino... OMIM:616730
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... OMIM:114300
Hypocalcemic Vitamin D-Dependent Rickets
Flat occiput, Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, De... ORPHA:289157
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Hypsarrhythmia, Secondary ... OMIM:618437
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529808
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Bilateral choanal atresia/stenosis, Dy... ORPHA:314679
Craniotubular Dysplasia, Ikegawa Type
Thickened calvaria, Metaphyseal dysplasia, Anteverted nares, Ventricular septal defect, Short sta... OMIM:619727
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529799
Adams-Oliver Syndrome 3
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... OMIM:614814
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st... ORPHA:2249
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Short metatarsal, Short palm, Clinodactyly of the 5th finger, Short phalanx of fing... OMIM:170390
Bannayan-Riley-Ruvalcaba Syndrome
Frontal bossing, Wide nose, Anteverted nares, Short stature, Cachexia, Micrognathia, Pectus excav... ORPHA:109
22Q11.2 Deletion Syndrome
Micrognathia, Short neck, Hypoplasia of the thymus, Arachnodactyly, Abnormal dental enamel morpho... ORPHA:567
Tarp Syndrome
Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Pec... OMIM:311900
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Osteopenia, Thickened ribs, Short neck, Brachycephaly, Pectus carina... ORPHA:309282
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Pectus excavatum of inferior sternum, Depressed nasal bridge, Rocker bottom foot, Tapered finger,... OMIM:601353
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Short stature, Prominent nasal bridge, Choanal atresia, Sensorineural h... OMIM:300472
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Pierre-Robin sequence, Small hand, Cleft palate, Anteriorly placed ... OMIM:619980
Infantile Liver Failure Syndrome 1
Long toe, Frontal bossing, Macrocytic anemia, Microcephaly, Long fingers, Anemia OMIM:615438
Van Maldergem Syndrome 1
Wide anterior fontanel, Sensorineural hearing impairment, Subcortical band heterotopia, Wide nasa... OMIM:601390
Holoprosencephaly 11
Cleft lip, Holoprosencephaly, Cleft palate OMIM:614226
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3301
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Clinodactyly, Atrial septal defect, Broad hallux, Anteverted nares, Tapered finger, Partial anoma... OMIM:301044
Distal Deletion 19P
Low-set, posteriorly rotated ears, Vaginal hernia, Sensorineural hearing impairment, Keloids, Con... ORPHA:96129
Ivic Syndrome
Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb,... ORPHA:2307
Fraser Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Omphalocele, Cleft ala nasi, Depressed nasal br... ORPHA:2052
Gracile Bone Dysplasia
Death in infancy, Short stature, Asplenia, Hydrocephalus, Flared metaphysis, Thin ribs, Decreased... OMIM:602361
Hartsfield Syndrome
Syndactyly, Median cleft lip, Cleft upper lip, Alobar holoprosencephaly, Cleft palate, Lobar holo... OMIM:615465
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Inguinal hernia, Anteverted nares, Posteriorly rotated ears, Camptod... ORPHA:2462
Alg9-Cdg
Low-set, posteriorly rotated ears, Omphalocele, Depressed nasal bridge, Lipodystrophy, Rhizomelia... ORPHA:79328
Aspartylglucosaminuria
Beaking of vertebral bodies, Pes planus, Abnormal morphology of ulna, Joint stiffness, Splenomega... ORPHA:93
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Ventricular septal defect, Short stature, Proximal placement of thum... OMIM:620113
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Hip dislocation,... OMIM:616507
Colonic Atresia
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia ORPHA:1198
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Genu ... ORPHA:2502
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short stature, Cachexia, Postaxial hand polydactyly, Short nose ORPHA:1389
Hamel Cerebro-Palato-Cardiac Syndrome
Arachnodactyly, Cleft palate, Narrow mouth ORPHA:93946
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Pes planus, Depressed nasal bridge, Tapered finger, Hyperlordosis, Hip dislocation, Obesity, Genu... OMIM:301066
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Oligodontia, C... OMIM:601701
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Charge Syndrome
Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand... OMIM:214800
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Postaxial polydactyly OMIM:614500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Micrognathia, Asplenia,... OMIM:265380
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... ORPHA:235
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Ob... OMIM:608624
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Osteopenia, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Frontal bossing, Depressed nasal bridge, Sandal gap, Pectus excavatum, Hydrocephalus, Abnormal fi... ORPHA:1812
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Depressed nasal bridge, Mild postnatal growth retardation, Pachygyria, Sensorineural hearing impa... OMIM:235510
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Flexion contracture, Brachycephaly, Depressed nasal bridge, Short stature, Tapered ... OMIM:309590
Feingold Syndrome
Hallux valgus, Toe syndactyly, Short stature, Deviation of the 2nd finger, Abnormal form of the v... ORPHA:1305
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Microcephaly, Anteverted ears, Multifocal epileptiform discharges, Cerebellar hypoplasia, Short nose OMIM:618087
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Short stature, Abnormality of the epiphysis of the femoral head, ... OMIM:618641
Treacher Collins Syndrome 2
Choanal atresia, Fusion of middle ear ossicles, Anotia, Microtia, Choanal stenosis, Conductive he... OMIM:613717
Intellectual Developmental Disorder, X-Linked 21
Short nose, Uplifted earlobe OMIM:300143
Joubert Syndrome 7
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Scoliosis OMIM:611560
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Hydrocephalus, Meningocele, Cle... OMIM:614424
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Mixed hearing impairment ORPHA:2698
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Frontal bossing, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Hydrocephalus, Macrocephaly OMIM:603387
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Prominent nasal bridge, Microcephaly, Dysplastic corpus callosum, Wide nasal bridg... OMIM:619179
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Microcephaly, Abnormal rib morphology, Tetralogy... ORPHA:276422
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Lumbar hyperlordosis, Depressed nasal bridge, Short stature, Decreased p... ORPHA:1830
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... OMIM:259710
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Short stature, Microcephaly, Sensorine... ORPHA:2719
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... ORPHA:2753
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... ORPHA:1647
Recon Progeroid Syndrome
Prominence of the premaxilla, Arachnodactyly, Anteverted nares, Proximal placement of thumb, Micr... OMIM:620370
Cloacal Exstrophy
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Hip dislocation, Abnormal... ORPHA:93929
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Aplasia of the nasal bone, Absent septum pellucidum, Dysplastic corpus callosum, Pro... OMIM:618820
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Tethered cord, Spina bifida, Tapered finger, Broad nasal tip, Wide nasal bridge,... OMIM:619480
Scarf Syndrome
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Joint hype... ORPHA:3134
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... ORPHA:2754
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal pha... OMIM:612938
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short neck, Brachycephaly, Irregular vertebral endplates, Posterior scalloping of vertebral bodie... OMIM:610442
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Short neck, Thrombocytopenia, Patent ductus arteriosus, Perimembranous ventricu... OMIM:608104
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... ORPHA:988
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Underdeveloped n... ORPHA:306542
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Stickler Syndrome, Type I
Depressed nasal bridge, Anteverted nares, Osteoarthritis, Sensorineural hearing impairment, Arthr... OMIM:108300
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Micrognathia, Brachycephaly, Atrial septal defect, Neonatal death, Syndact... OMIM:612289
Fanconi Anemia, Complementation Group R
Microcephaly, Absent thumb, Hydrocephalus, Growth delay, Anemia, Scoliosis, Radial dysplasia OMIM:617244
C Syndrome
Low-set, posteriorly rotated ears, Omphalocele, Depressed nasal bridge, Anteverted nares, Failure... ORPHA:1308
Rhyns Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Short stature OMIM:602152
Contractures-Developmental Delay-Pierre Robin Syndrome
Inguinal hernia, Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, High, narrow ... ORPHA:436003
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Frontal bossing, Arachnodactyly, Micrognathia, Thin calvarium, Short nose, Midface retrusion, Del... ORPHA:1129
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Abnormal bone ossification, C... ORPHA:79324
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Cleft lip, Partial duplication of... OMIM:618348
Helsmoortel-Van Der Aa Syndrome
Posterior plagiocephaly, Short 4th toe, Clinodactyly of the 5th finger, Prominent fingertip pads,... OMIM:615873
Joubert Syndrome 23
Polydactyly OMIM:616490
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co... ORPHA:276621
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Short stature, Limited elbow movement, Delayed closure of the anterior font... OMIM:614008
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Foot joint contracture, Scarring, Postnat... ORPHA:90321
Turnpenny-Fry Syndrome
Brachycephaly, Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow chest, Atr... OMIM:618371
Brittle Cornea Syndrome 1
Congenital hip dislocation, Red hair, Scoliosis, Macrocephaly, Palmoplantar cutis laxa, Dentinoge... OMIM:229200
Fanconi Anemia, Complementation Group P
Pancytopenia, Absent thumb, Microcephaly, Short thumb, Micrognathia, Hypoplasia of the radius, Bu... OMIM:613951
Ring Chromosome 7 Syndrome
Anteverted nares, Single transverse palmar crease, Prominent nasal bridge, Microcephaly, Situs in... ORPHA:1449
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... OMIM:602196
Mend Syndrome
Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge, Microgna... OMIM:300960
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Choanal stenosis, Severe sensorineural hearing impairment, Conductive hearing imp... OMIM:620186
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Tetrasomy 12P
Frontal bossing, Anteverted nares, Short stature, Cachexia, Short neck, Delayed skeletal maturati... ORPHA:884
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the dentition, Cleft upper lip OMIM:273400
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Poikiloderma With Neutropenia
Depressed nasal bridge, Elevated circulating creatine kinase concentration, Skin rash, Underdevel... OMIM:604173
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Long palm, Coxa valga, Avascular necrosis of the capital femo... ORPHA:3342
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Postnatal growth retardation, Sensorineural ... ORPHA:1435
Laurence-Moon Syndrome
Pigmentary retinopathy, Polydactyly, Abnormality of the hand OMIM:245800
Esophageal Atresia
Omphalocele, Small for gestational age, Choanal atresia, Failure to thrive in infancy, Abnormalit... ORPHA:1199
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Depressed nasal bridge, Ventricular septal defect, Proportionate short s... OMIM:613457
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal... OMIM:619339
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal bossing, Short metacarpal, Sacral dimple, Anteverted nares, Depressed nasal bridge, Short... OMIM:617157
Elsahy-Waters Syndrome
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C... OMIM:211380
19P13.13 Microdeletion Syndrome
Pes planus, Sandal gap, Anteverted nares, Depressed nasal bridge, Dolichocephaly, Pectus excavatu... ORPHA:357001
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Depressed nasal bridge, Broad nasal tip OMIM:601927
Toluene Embryopathy
Short stature, Microcephaly, Protruding ear, Low-set ears, Short nose ORPHA:1920
Monosomy 18Q
Failure to thrive, Depressed nasal bridge, Short stature, Prominent nose, Microcephaly, Bulbous n... ORPHA:1600
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Microcephaly, Short st... ORPHA:280200
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Death in childhood, Melanin pigment... OMIM:256710
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Short neck, Cardiomegaly, Secund... OMIM:300855
Peho Syndrome
Short nose, Edema of the dorsum of feet, Progressive microcephaly, Tapered finger OMIM:260565
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Growth de... OMIM:234050
Nablus Mask-Like Facial Syndrome
Frontal bossing, Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Antev... OMIM:608156
Scarf Syndrome
Barrel-shaped chest, Prominent nasal bridge, Short neck, Wide nasal bridge, Abnormal form of the ... OMIM:312830
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Sho... ORPHA:364577
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Holoprosencephaly 9
Cleft upper lip, Postaxial hand polydactyly, Agenesis of incisor, Dental malocclusion, Hydrocepha... OMIM:610829
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, Death ... OMIM:619127
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Anteverted nares, Rocker bottom foot, Postaxial ... ORPHA:2886
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Short stature, Lateral clavicle hook, Horizontal ribs, ... OMIM:208500
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short stature, Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly OMIM:113301
Fryns Syndrome
Omphalocele, Anteverted nares, Aganglionic megacolon, Large for gestational age, Hypoplasia of th... OMIM:229850
Amme Complex
Inguinal hernia, Depressed nasal bridge, Diastasis recti, Sensorineural hearing impairment, Ellip... OMIM:300194
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Anteverted nare... OMIM:619879
Frontofacionasal Dysplasia
Encephalocele, Non-midline cleft lip, Cleft palate ORPHA:1791
5Q14.3 Microdeletion Syndrome
Short nose, Toe syndactyly, Anteverted nares ORPHA:228384
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Narrow mouth, Calcaneovalgus ... OMIM:615065
Mend Syndrome
Short stature, Prominent nasal bridge, Abnormal auditory evoked potentials, Wide anterior fontane... ORPHA:401973
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Pancytopenia, Postaxial polydactyly, Microcephaly, Splenomegaly, Hydrocephalus,... OMIM:614576
Radial Ray Hypoplasia With Choanal Atresia
Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin... OMIM:179270
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Prominent nasal bridge, Wide nasal bridge, Low-set ears, Abnormal helix morphology, ... ORPHA:1519
Chromosome 3Q29 Duplication Syndrome
Pes planus, Microcephaly, Bulbous nose, Wide nasal bridge, Obesity, Multiple palmar creases, Macr... OMIM:611936
Adams-Oliver Syndrome 6
Syndactyly, Hypoplastic toenails, Splenomegaly, Foot oligodactyly, Calvarial skull defect, Brachy... OMIM:616589
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Craniometaphyseal Dysplasia, Autosomal Dominant
Nasal congestion, Mixed hearing impairment, Facial palsy, Bony paranasal bossing OMIM:123000
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphol... ORPHA:667
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Adnp Syndrome
Single transverse palmar crease, Abnormal finger morphology, Brachycephaly, Advanced eruption of ... ORPHA:404448
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Deeah Syndrome
Death in infancy, Cervical hemivertebrae, Overlapping fingers, Short stature, Decreased hemoglobi... OMIM:619004
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Depressed nasal bridge, Diastasis recti, Short stature, Postnat... ORPHA:576
Renal Agenesis, Bilateral
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m... ORPHA:1848
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Ventricular septal defect, Short stature, Absent thumb, ... OMIM:227645
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Pectus excavatum, Kyphosis, Flexion contracture, Osteolysis, Abno... ORPHA:3042
Beckwith-Wiedemann Syndrome
Omphalocele, Otosclerosis, Inguinal hernia, Diastasis recti, Elevated circulating alpha-fetoprote... ORPHA:116
Fanconi Anemia, Complementation Group O
Death in infancy, Short stature, Miscarriage, Proximal placement of thumb, Absent thumb, Short th... OMIM:613390
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Micrognathia, Contractures of the large joints, Scoliosis, Trigonocephaly, Short nose... ORPHA:329178
Squalene Synthase Deficiency
Depressed nasal bridge, Micrognathia, Bilateral cryptorchidism, Elbow flexion contracture, 2-3 to... OMIM:618156
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Sacral dimple, Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Tapered finger, Pr... OMIM:300968
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum ORPHA:2611
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Bone pain, Aortic valve s... OMIM:230800
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Hydr... OMIM:600145
Tetraamelia Syndrome 2
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate OMIM:618021
Mirage Syndrome
Short stature, Rocker bottom foot, Radial club hand, Hydrocephalus, Patent ductus arteriosus, Thr... OMIM:617053
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Low ... OMIM:614976
Non-Syndromic Posterior Hypospadias
Omphalocele, Small for gestational age, Congenital diaphragmatic hernia ORPHA:95706
Isotretinoin-Like Syndrome
Inguinal hernia, Anteverted nares, Microcephaly, Postnatal growth retardation, Hydrocephalus, Apl... ORPHA:2306
Familial Benign Copper Deficiency
Early balding, Diaphyseal thickening, Wide nasal bridge, Anemia ORPHA:1551
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Me... OMIM:259770
Gm1 Gangliosidosis
Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, G... ORPHA:354
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Split hand, Clubbing, Cleft palate, Cleft upper lip OMIM:600460
Marshall Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Osteoarth... ORPHA:560
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Stippled calcification of th... ORPHA:51608
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Death in infancy, Femur fracture, Splenomegaly, Hydrocephalus, Growth del... OMIM:612301
Retinitis Pigmentosa 89
Esophageal varix, Postaxial polydactyly OMIM:618955
Dend Syndrome
Anteverted nares, Elevated hemoglobin A1c, Thickened ears, Hypsarrhythmia, Short nose ORPHA:79134
Boomerang Dysplasia
Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na... OMIM:112310
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Cardiomegaly, Thrombocytope... OMIM:608013
Alport Syndrome 3A, Autosomal Dominant
Glomerulonephritis, Sensorineural hearing impairment, Hypophosphatemia, Azotemia, Nephritis, Hear... OMIM:104200
Faciocardiomelic Syndrome
Anteverted nares, Depressed nasal bridge, Microcephaly, Micrognathia, Cuboid-shaped vertebral bod... OMIM:612731
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
2Q31.1 Microdeletion Syndrome
Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, Clinodactyly o... ORPHA:251014
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Oste... ORPHA:1163
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Small for gestational age, Short stature, Sensorineural hearing impairmen... OMIM:300661
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Talipes calcaneovalgus, Abnormal form of t... ORPHA:818
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bilateral cleft lip and palate, Clinodactyly of the 5th finger, Bifid ton... ORPHA:2001
Giant Cell Arteritis
Pericarditis, Epistaxis, Recurrent pharyngitis, Vertigo, Optic atrophy, Weight loss, Arthritis, C... ORPHA:397
Tetraamelia Syndrome 1
Cleft upper lip, Hydrocephalus, Cleft palate, Gastroschisis, Hypoplastic pelvis, Anal atresia OMIM:273395
Cockayne Syndrome B
Basal ganglia calcification, Loss of facial adipose tissue, Normal pressure hydrocephalus, Severe... OMIM:133540
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... ORPHA:811
Okamoto Syndrome
Omphalocele, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Microcephaly, S... ORPHA:2729
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Vertigo, Hyperkalemia, Hyperphosphatemia, Hyp... ORPHA:466650
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Mandibular prognathia, Hypopigmentation of hair, Cessation of head growth, Hypopigmentation of th... ORPHA:411515
Adenylosuccinase Deficiency
Anteverted nares, Microcephaly, Cerebral atrophy, Growth delay, Low-set ears, Short nose OMIM:103050
Brachydactyly, Type E1
Short metacarpal, Moderately short stature, Short metatarsal, Straight clavicles, Short clavicles... OMIM:113300
Faundes-Banka Syndrome
Underdeveloped nasal alae, Bulbous nose, Cupped ear, Microtia, Long ear, Low-set ears, Primary mi... OMIM:619376
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Wormian ... OMIM:616603
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Frontal bossing, Anteverted nares, Down-sloping shoulders, Prominent nasal bri... ORPHA:1974
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... ORPHA:570
Developmental Delay, Hypotonia, And Impaired Language
Mixed hearing impairment, Microcephaly, Recurrent pneumonia, Neutropenia OMIM:620012
Gapo Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fontan... OMIM:230740
3Mc Syndrome
Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Limited pronation/supination of fo... ORPHA:293843
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Microcephaly, Spinal dysraphism, Butterfly vertebrae OMIM:617660
Witteveen-Kolk Syndrome
Proximal placement of thumb, Short palm, Clinodactyly of the 5th finger, Microretrognathia, Branc... OMIM:613406
Kleefstra Syndrome
Anteverted nares, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Short stature, ... ORPHA:261494
Rothmund-Thomson Syndrome, Type 2
Frontal bossing, Congenital hip dislocation, Small for gestational age, Depressed nasal bridge, K... OMIM:268400
Toriello-Lacassie-Droste Syndrome
Anteverted nares, Absent septum pellucidum, Aganglionic megacolon, Abnormality of the ear, Growth... ORPHA:3339
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Short stature, Convex nasal ridge, Abnormal fingertip morpho... ORPHA:90154
Congenital Sialidosis Type 2
Inguinal hernia, Protruding tongue, Hydrocephalus, Gingival overgrowth, Polydactyly, Umbilical he... ORPHA:93400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short stature, Tapered finger, Abnormal foot morphology, Scoliosis, Aortic valve stenosis, Hallux... ORPHA:268261
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Hypointensity of cerebr... ORPHA:206436
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Narrow naris, Sensorineural hearing impairment OMIM:122880
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Pes cavus, Macrocephaly at birth, Proportionate shortening of all digits, Ante... ORPHA:280633
Shwachman-Diamond Syndrome 2
Normocytic anemia, Death in infancy, Short stature, Anterior rib cupping, Microcephaly, Thrombocy... OMIM:617941
Cystinosis
Short stature, Hypophosphatemia, Hypokalemia, Delayed puberty, Failure to thrive ORPHA:213
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdevelop... OMIM:300912
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Joint stiffness, Thrombocytopenia, Hydroce... ORPHA:505248
Hajdu-Cheney Syndrome
Wide nose, Inguinal hernia, Anteverted nares, Short stature, Hydrocephalus, Large earlobe, Low-se... OMIM:102500
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Polydactyly OMIM:613464
Peters Plus Syndrome
Micromelia, Micrognathia, Short neck, Bicuspid pulmonary valve, Brachycephaly, Clinodactyly of th... ORPHA:709
Prolidase Deficiency
Depressed nasal bridge, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatit... OMIM:170100
Kabuki Syndrome
Failure to thrive, Short stature, Congenital diaphragmatic hernia, Microcephaly, Sensorineural he... ORPHA:2322
Cranioectodermal Dysplasia 2
Micrognathia, Short neck, Narrow chest, Atrial septal defect, Patent foramen ovale, Joint laxity,... OMIM:613610
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Microcephaly, Postaxial hand polydactyly, Patent ductus arteriosus, Ab... ORPHA:2519
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... OMIM:609465
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, 2-3 toe ... ORPHA:522077
Prader-Willi Syndrome
Short palm, Hypopigmentation of the skin, Iris hypopigmentation, Syndactyly, Hypogonadotropic hyp... OMIM:176270
Degcags Syndrome
Osteopenia, Prominent nose, Micrognathia, Leukopenia, Iron deficiency anemia, Atrial septal defec... OMIM:619488
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Frontal bossing, Occipital encephalocele, Abnormal acetabulum morphology, Depressed nasal bridge,... ORPHA:397715
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Recurrent pneumonia, EEG abnormality, Low-set ears, Asp... ORPHA:314655
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Anosmia, Aplasia of t... OMIM:603457
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Cerebral calcification, Failure to thrive, Elevated circulating creatine kinase con... ORPHA:2785
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Inguinal hernia, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper l... OMIM:129900
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Mixed hearing impairment, Pneumonia, Hepatosplenomegaly, Subcort... ORPHA:309288
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Bulbous nose, Postaxial hand polydactyly, Postaxial foot polydactyly,... OMIM:258850
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Large for gestational age, Splenomegaly, Obesity, Recurrent otitis media,... OMIM:605309
Cockayne Syndrome A
Prominent nose, Basal ganglia calcification, Loss of facial adipose tissue, Short stature, Normal... OMIM:216400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Joint dislocation, Joint laxity, Arachnodactyly, Pectus excavatum, Generalized... OMIM:601776
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Microcephaly ORPHA:833
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Bladder Exstrophy
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy ORPHA:93930
Hennekam Syndrome
Depressed nasal bridge, Camptodactyly of finger, Mild postnatal growth retardation, External ear ... ORPHA:2136
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Short stature, Hypophosphatemia OMIM:193100
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Paroxysmal vertigo, Cranial nerve compression, Weight loss, Co... ORPHA:29072
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Talipes equinovarus, Macrocephaly, Short nose, Failure to thrive, Broad c... OMIM:617865
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia OMIM:613150
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Cerebral dysmyelination, Short-segmen... OMIM:609136
Atelis Syndrome 2
Pes planus, Frontal bossing, Sacral dimple, Single transverse palmar crease, Micrognathia, Promin... OMIM:620185
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Pearson Syndrome
Reticulocytosis, Pancytopenia, Small for gestational age, Microcephaly, Postnatal growth retardat... ORPHA:699
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Frontal bossing, Atrial septal defect, Anteverted nares, Depressed nasal bridge, Large for gestat... OMIM:614080
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... ORPHA:861
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Ankle flexion contracture, Underdeveloped nasal alae, Elbow flexion con... OMIM:618175
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Ventricular septal defect, Micrognathia, Partial duplic... OMIM:164210
Fraser Syndrome 1
Encephalocele, Wide nose, Cleft ala nasi, Depressed nasal bridge, Abnormal pinna morphology, Abno... OMIM:219000
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Inguinal hernia, Redun... OMIM:614557
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Short stature, Microcephaly, Flexion contracture, Absence of subcutane... OMIM:601675
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Microtia, third degree, Abnormal nasal morphology, Low-set ears, Cam... OMIM:200110
Ayme-Gripp Syndrome
Pericarditis, Depressed nasal bridge, Short stature, Tapered finger, Pectus excavatum, Wide nasal... OMIM:601088
Larsen Syndrome
Conductive hearing impairment, Depressed nasal bridge, Short stature ORPHA:503
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Depressed nasal bridge, Large for gestational age, Thrombocytopenia, Neutropenia, Umb... OMIM:614520
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Bulbous nose, Sensorineural he... ORPHA:466943
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Hypopigmentation of the ski... OMIM:614072
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Shor... OMIM:227650
Pitt-Hopkins Syndrome
Pes planus, Anteverted nares, Single transverse palmar crease, Prominent nasal bridge, Tapered fi... ORPHA:2896
Yunis-Varon Syndrome
Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Anterior concavity of ... OMIM:216340
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... OMIM:617088
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Short stature, Microcephaly, Wide nasal bridge, Microtia, Intrauterine growth r... ORPHA:2282
Oslam Syndrome
Clinodactyly, Radioulnar synostosis, Anemia, Radial deviation of finger OMIM:165660
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, Neutropenia, Shor... ORPHA:221016
Pancreatic And Cerebellar Agenesis
Death in infancy, Microcephaly, Joint stiffness, Secundum atrial septal defect, Flexion contractu... OMIM:609069
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Midface retrusion, Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Long fo... ORPHA:500095
Stromme Syndrome
Accessory spleen, Prominent nasal bridge, Microcephaly, Micrognathia, Hydrocephalus, Preaxial pol... OMIM:243605
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme... OMIM:261540
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cleft lip, Unilate... OMIM:619103
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Microcephaly, Abnormality of the spleen, Meningoce... ORPHA:991
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Noonan Syndrome 3
Pectus carinatum, Atrial septal defect, Left unilambdoid synostosis, Patent foramen ovale, Juveni... OMIM:609942
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment, Severe short stature OMIM:126550
Arteriosclerosis, Severe Juvenile
Short stature, Hip dysplasia, Delayed puberty, Dysplasia of second lumbar vertebra, Short phalanx... OMIM:208060
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Metopic synostosis, Trigonocephaly, Short nose OMIM:300581
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Atrial septal defect, Patent foramen ovale, Accessory spl... OMIM:620005
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Prominent nasal tip, Frontal bossing, Joint laxity, Sandal gap, Ventricular septal defect, Broad ... OMIM:620330
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Microceph... OMIM:600901
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Aplasia/Hypoplasia of the cerebellum, Abnormal auditory evoked potential... ORPHA:99027
Mccune-Albright Syndrome
Pancytopenia, Hepatitis, Nasal congestion, Hypophosphatemia, Pancreatitis, Hearing impairment ORPHA:562
Shprintzen Omphalocele Syndrome
Omphalocele, Short stature, Flared nostrils, Wide nasal bridge, Short columella, Decreased body w... OMIM:182210
Hunter-Macdonald Syndrome
Inguinal hernia, Short stature, Sensorineural hearing impairment, Premature osteoarthritis, Campt... OMIM:611962
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Protruding ear, Periodontitis, Chronic otitis media, Low-set, posteriorly rotated ... ORPHA:534
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Bone ... ORPHA:352540
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger OMIM:277450
Distal Deletion 12Q
Median cleft lip, Broad hallux, Single transverse palmar crease, Overlapping toe, High, narrow pa... ORPHA:96149
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Single transverse palmar crease, Long nose, Atrial septal defect, Clinodactyly of the 5th finger,... OMIM:619522
Rothmund-Thomson Syndrome
Aplastic anemia, Neutropenia, Sparse hair, Hypopigmentation of the skin, Abnormality of the nail,... ORPHA:2909
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Microcephaly, Erythroid hypoplasia, Reticular hyperpigmentation, Hypogonad... OMIM:618165
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Cerebral cortical atrophy, Hypoplasia of the corpus callosum ORPHA:85277
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Eczema, Recurrent skin infections, Microceph... OMIM:308205
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Broad hallux phalanx, Sacral dimple, Atrial septal defect, Sandal gap, Single transve... ORPHA:363611
Charge Syndrome
Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Holoprosencephaly, Abnormality of ... ORPHA:138
Juvenile Polyposis Of Infancy
Refractory anemia, Frontal bossing, Depressed nasal bridge, Short stature, Cachexia, Patent ductu... ORPHA:79076
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Synophrys, Depressed nasal bridge, Postaxial polydactyly OMIM:615824
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Secundum atrial septal defect, Pectus carinatum, Leukopenia, Hyp... OMIM:612541
H Syndrome
Hallux valgus, Cleft upper lip, Malabsorption, Hydrocephalus, Gingival overgrowth, Camptodactyly ORPHA:168569
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Short stature, Increased circulating beta-C-terminal telopeptide concentration, Growth delay, Hyp... ORPHA:157215
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair, Long fibula, Biparietal narrowing, Abnormal metaphysis morphology, Lymphop... ORPHA:935
Mullegama-Klein-Martinez Syndrome
Frontal bossing, Depressed nasal bridge, Curly eyelashes, Microcephaly, Micrognathia, Prominent n... OMIM:301022
Pycnodysostosis
Rhizomelia, Cerebral dysmyelination, Prominent nose, Overweight, Hepatosplenomegaly, Mild conduct... ORPHA:763
Brittle Cornea Syndrome
Sensorineural hearing impairment, Corneal scarring, Hernia, Camptodactyly, Conductive hearing imp... ORPHA:90354
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Hypopigmentation of hair, Flat occiput, Cessation of head growth, Mild mic... ORPHA:411511
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Inguinal hernia, Depressed nasal bridge, Uplifted earlobe, Reduced cerebral white matter volume, ... OMIM:280000
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Short stature, Hypophosphatemia OMIM:308990
Ear-Patella-Short Stature Syndrome
Severe short stature, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation... ORPHA:2554
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Flexion contracture, Thin ribs, Decreased body weight, Mild short stature OMIM:614833
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta... OMIM:612199
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Hypopigmentation of the skin, Sho... ORPHA:221008
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Overlapping toe, Broad hallux, Sandal gap, Anteverted nares, Depressed nasal... OMIM:618332
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short stature, Pectus excavatum, Macrocephaly, Short nose ORPHA:2835
Bardet-Biedl Syndrome 1
Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda... OMIM:209900
Marden-Walker Syndrome
Severe short stature, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Pectus excavatum,... ORPHA:2461
Senior-Loken Syndrome 9
Hypogonadism, Polydactyly, Hypoplasia of the femoral head OMIM:616629
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Postnatal growth retardation, Hypophosphatemia... OMIM:227810
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive, Anemia OMIM:239200
Hypophosphatemic Bone Disease
Short stature, Hypophosphatemia OMIM:146350
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ... OMIM:608670
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi... OMIM:225400
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... ORPHA:95427
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Abnormal form of the vertebral bod... ORPHA:904
Coffin-Siris Syndrome 1
Single transverse palmar crease, Partial agenesis of the corpus callosum, Brachycephaly, Prominen... OMIM:135900
Nijmegen Breakage Syndrome
Anal stenosis, Sandal gap, Cleft upper lip, Deep philtrum, 2-3 toe syndactyly, Cleft palate, Anal... OMIM:251260
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Absent radius, Micrognathia, Hydrocephalus, Short neck, Wide na... OMIM:614083
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bicuspid aortic valve, Single transverse palmar crease, Abnormal curvature of the vert... OMIM:619475
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Anteverted nares, Postaxial polydactyly, Abnormal hair whorl, Hydrocephalus, Plagio... ORPHA:457284
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Microcephaly, Hydrocephalus, Flexion contracture, Leukocytosis, Genu valgum, Abdom... OMIM:619321
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Short stature, Conductive hearing impairment, Sensorineural hearing impairment, ... ORPHA:536545
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Cupped ear, Wide nasal bridge, Conjunctivitis, Low-set ears OMIM:615560
Holoprosencephaly 13, X-Linked
Median cleft lip, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft palate, Semilobar ... OMIM:301043
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Anterior rib cupping, Horizontal inferior border of scapula, Abnormal pelvic girdle bone morpholo... OMIM:102700
Cockayne Syndrome Type 3
Optic disc pallor, Cerebral white matter atrophy, Mild postnatal growth retardation, Splenomegaly... ORPHA:90324
Familial Isolated Hyperparathyroidism
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia ORPHA:99879
Colchicine Poisoning
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... ORPHA:31824
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Brachydactyly OMIM:100300
Vici Syndrome
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Cleft palate, Thick vermilion bor... OMIM:242840
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Hypopigmentation of hair, Flat occiput, Cessation of head growth, Mild mic... ORPHA:98794
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Anemia, Cortical thickening of... OMIM:131300
Autosomal Recessive Hypophosphatemic Rickets
Increased bone mineral density, Short stature, Rickets of the lower limbs, Craniosynostosis, Lowe... ORPHA:289176
Holoprosencephaly 14
Median cleft lip, Alobar holoprosencephaly, Aqueductal stenosis, Cleft lip, Hydrocephalus, Cleft ... OMIM:619895
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Lymphedema-Distichiasis Syndrome
Cleft palate, Cleft upper lip ORPHA:33001
Melanocytic Nevus Syndrome, Congenital
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip OMIM:137550
Mogs-Cdg
Absent brainstem auditory responses, Wide nose, Sensorineural hearing impairment, Optic atrophy, ... ORPHA:79330
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the t... ORPHA:436252
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Short stature, Absent thumb, Absent radius, Preaxial han... OMIM:227646
9q subtelomeric deletion syndrome
Anteverted nares, Microcephaly, Abnormal heart morphology, Short nose, Midface retrusion DECIPHER:52
Mckusick-Kaufman Syndrome
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... ORPHA:2473
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Micromelia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossific... ORPHA:93271
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Aplastic c... ORPHA:2658
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Narrow nasal tip, Prominent nasal bridge, Microcep... ORPHA:464306
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Flexion contracture, Atrial septal defect, Clinodactyly of the... OMIM:194050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... OMIM:619503
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Short thumb, Short neck OMIM:610832
Floating-Harbor Syndrome
Inguinal hernia, Posteriorly rotated ears, Prominent nasal bridge, Short stature, Prominent nose,... OMIM:136140
Rabson-Mendenhall Syndrome
Mandibular prognathia, Wide nose, Anteverted nares, Thick hair, Prominent nasal bridge, Onychauxi... ORPHA:769
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip... OMIM:604292
Manitoba Oculotrichoanal Syndrome
Bifid nasal tip, Omphalocele, Broad nasal tip OMIM:248450
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Frontal bossing, Depressed nasal bridge, Anteverted nares, Short stature, Severe postnatal growth... OMIM:613038
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn... OMIM:601803
Joubert Syndrome 39
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hip contracture, Short stature, Knee flexion contracture, Bilateral conductive hearing impairment... ORPHA:488642
Congenital Myopathy 13
Short stature, Microcephaly, Flexion contracture, Low-set ears, Conductive hearing impairment OMIM:255995
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypouricemia, Short stature, Hypophosphatemia OMIM:616026
Dextrocardia
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal foot morphology, Hydro... ORPHA:1666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cleft upper lip, Meningoencephalocele, Hydrocephalus, Cleft palate, Anal... OMIM:236670
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Hypopigmentation of hair, Cessation of head growth, Secondary microcephaly... ORPHA:98795
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Optic disc coloboma, Choanal stenosis, Low-set ears, Short nose ORPHA:1790
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Short nose, Optic atrophy, Sensorineural hearing impairment OMIM:614863
Townes-Brocks Syndrome
Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th finger, Agenesis of corpus cal... ORPHA:857
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Familial Visceral Myopathy
Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the abdomin... ORPHA:2604
Griscelli Syndrome Type 2
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... ORPHA:79477
Fanconi-Bickel Syndrome
Growth delay, Failure to thrive, Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Pancreatitis, Chondrocalcinosis OMIM:600740
Fanconi Renotubular Syndrome 1
Hypokalemia, Short stature, Hypophosphatemia OMIM:134600
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Delayed skeletal maturation, Bell-shaped thorax, Growth delay, Failure to thrive, Horizontal ribs OMIM:614857
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Broad nasal tip, Underdeveloped nasal alae, Microcephaly, Sensorineural h... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Broad nasal tip, Underdeveloped nasal alae, Microcephaly, Sensorineural h... ORPHA:352665
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Micrognathia, Structural foot deformity, Atrial septal d... ORPHA:1662
Sim1-Related Prader-Willi-Like Syndrome
Narrow nasal bridge, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Sma... ORPHA:398079
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Contracture of the proximal interpha... ORPHA:314585
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Microcephaly, Patent ductus arteriosus, Hypoplasia of the radius, Ap... OMIM:617247
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Depressed nasal bridge, Posteriorly rotated ears, Facial palsy, Br... OMIM:113620
White-Kernohan Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ... OMIM:619426
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials, Abnormal corpus callosum morphology ORPHA:206448
Native American Myopathy
Short stature, Congenital contracture, Camptodactyly, Conductive hearing impairment, Arthrogrypos... ORPHA:168572
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Cardiac-Valvular Ehlers-Danlos Syndrome
Inguinal hernia, Short stature, Bulbous nose, Severe conductive hearing impairment, Atrophic scars ORPHA:230851
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... OMIM:619381
Choanal Atresia
Nasal congestion, Polydactyly, Craniosynostosis ORPHA:137914
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Craniosynostosis, Fibular aplasia OMIM:218550
Feingold Syndrome Type 1
Short stature, Microcephaly, Sensorineural hearing impairment, Conductive hearing impairment, Nep... ORPHA:391641
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Wide nose, Papilledema, Depressed nasal bridge, Convex nasal ridge, Absent mall... OMIM:614188
Frontofacionasal Dysplasia
Cranium bifidum occultum, Bifid uvula, Orofacial cleft, Cleft upper lip OMIM:229400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral ... ORPHA:85165
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... OMIM:214500
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Short stature, Hypercalcemia, Hypophosphatemia OMIM:612089
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Short stature, Hypophosphatemia OMIM:300554
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Growth delay, Abnormal cerebral white matter morphology, Hypoka... ORPHA:411629
Legius Syndrome
Inguinal freckling, Acute monocytic leukemia, Axillary freckling, Multiple cafe-au-lait spots, Di... ORPHA:137605
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Growth delay, Hypokale... ORPHA:411634
Beckwith-Wiedemann Syndrome
Omphalocele, Posterior helix pit, Diastasis recti, Dandy-Walker malformation OMIM:130650
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Cachex... ORPHA:2072
Cystinosis, Nephropathic
Hyponatremia, Cerebral calcification, Failure to thrive in infancy, Short stature, Splenomegaly, ... OMIM:219800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Short stature, Pneumonia, Sensorineural hearing impairment, Obesity, Growth delay, EEG abnormalit... ORPHA:353281
Fanconi Renotubular Syndrome 2
Short stature, Hypophosphatemia OMIM:613388
Neurocardiofaciodigital Syndrome
Syndactyly, Microcephaly, Sparse eyebrow, Polydactyly, Sparse hair, Retrognathia, Overhanging nas... OMIM:619869
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Lumbar Syndrome
Cryptorchidism, Myelomeningocele, Spina bifida ORPHA:83628
Tibial Hemimelia
Absent tibia OMIM:275220
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Prominent nose, Brachycephaly, Depressed nasal bridge, Thoracolumbar ... ORPHA:480880
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Umbilical hernia ORPHA:2241
Isolated Posterior Meningocele
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural t... ORPHA:268810
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Depressed nasal ridge, Decreased cervical spine mobility, Polydact... ORPHA:95494
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Abnormal curvature of the vertebral column, Cervical cord compression, Abnormality ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Abnormal curvature of the vertebral column, Cervical cord compression, Abnormality ... ORPHA:353277
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Single transverse palmar crease, Splenomegaly, Cafe-au-lait spot, Hypop... OMIM:618541
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... OMIM:606721
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Orofaciodigital Syndrome Xiv
Natal tooth, Occipital encephalocele, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial han... OMIM:615948
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Small for gestational age, Thin ribs OMIM:615368
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Microcephaly ORPHA:79254
Lymphedema-Distichiasis Syndrome
Cleft palate, Cleft upper lip OMIM:153400
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndac... OMIM:107480
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retardation, Kyphosis, Wri... OMIM:309000
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... ORPHA:79102
1P21.3 Microdeletion Syndrome
Short nose, Obesity, Long ear, Broad nasal tip ORPHA:293948
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Exstrophy-Epispadias Complex
Omphalocele, Inguinal hernia, Spina bifida, Microcephaly, Hydrocephalus, Cystocele, Abnormality o... ORPHA:322
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Magel2-Related Prader-Willi-Like Syndrome
Narrow nasal bridge, Hypopigmentation of hair, Cryptorchidism, Kyphosis, Small hand, Primary amen... ORPHA:398069
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Turricephaly, Short stature, Camptodactyly of finger, Abnormal rib morphology,... ORPHA:2907
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... ORPHA:171430
Semilobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... ORPHA:93924
Microphthalmia, Syndromic 1
Syndactyly, Dental crowding, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Cleft upper... OMIM:309800
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly OMIM:219730
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Choanal atresia, Abnormal dental enamel morp... ORPHA:2363
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm... OMIM:607932
Kindler Epidermolysis Bullosa
Finger syndactyly, Turricephaly, Camptodactyly of finger, Flexion contracture, Abnormal rib morph... ORPHA:2908
Dent Disease 1
Short stature, Hypophosphatemia OMIM:300009
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Microtia, Choanal atresia OMIM:154500
Neurooculorenal Syndrome
Mixed hearing impairment, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the po... OMIM:620305
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Cardiac Diverticulum
Omphalocele, Diastasis recti, Endocarditis, Umbilical hernia, Abdominal wall defect ORPHA:1686
Hutchinson-Gilford Progeria Syndrome
High-frequency sensorineural hearing impairment, Prominent umbilicus, Narrow nasal tip, Narrow na... ORPHA:740
Oeis Complex
Omphalocele, Myelomeningocele, Hydrocephalus, Bladder exstrophy, Cloacal exstrophy OMIM:258040
Floating-Harbor Syndrome
Narrow nasal bridge, Small for gestational age, Short stature, Broad nasal tip, Long nose, Cochle... ORPHA:2044
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Liver Disease, Severe Congenital
Chronic gastritis, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, ... OMIM:619991
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Growth delay, Hypokalemia, Decreased... ORPHA:3337
Prader-Willi Syndrome
Narrow nasal bridge, Hypopigmentation of hair, Cryptorchidism, Small hand, Primary amenorrhea, Sh... ORPHA:739
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Hypopigmented skin patches, Taurodontia, Mul... ORPHA:3214
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Short stature, Small for gestational age, Postnatal growth retardation, Long fingers, S... OMIM:613355
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, Primary amen... ORPHA:98754
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Wide nose, Depressed nasal bridge, Choanal atresia, Decreased circulating renin lev... OMIM:201750
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Hereditary Fructose Intolerance
Growth delay, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Parathyroid Carcinoma
Hypercalcemia, Weight loss, Hypophosphatemia, Lipoma, Pancreatitis, Chondrocalcinosis ORPHA:143
Loeys-Dietz Syndrome 2
Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinoph... OMIM:610168
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Hypouricemia, Microcephaly, Cerebral atrophy, Growth delay, Hypoplasia ... OMIM:252160
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, Primary amen... ORPHA:98793
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, Primary amen... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Small hand, Primary amen... ORPHA:177901
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Menkes Disease
Bowing of the long bones, Hypopigmentation of hair, Tarsal synostosis, Microcephaly, Micrognathia... ORPHA:565
Down Syndrome
Aganglionic megacolon, Short stature, Microtia, Myeloproliferative disorder, Conductive hearing i... OMIM:190685
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Pan... ORPHA:167
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Cholesteatoma OMIM:610978
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Sotos Syndrome
Hip contracture, Inguinal hernia, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hypercalce... ORPHA:821
Nijmegen Breakage Syndrome
Anal stenosis, Deep philtrum, Non-midline cleft lip, Cleft palate, Anal atresia ORPHA:647
Retinitis Pigmentosa 74
Pigmentary retinopathy, Polydactyly OMIM:616562
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Uplifted earlobe, Asplenia, Flexion contracture, Large basal gangli... ORPHA:2152
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... OMIM:301068
Branchioskeletogenital Syndrome
Attached earlobe, Mixed hearing impairment, Depressed nasal bridge, Broad nasal tip, Microcephaly... ORPHA:1299
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele, Short columella ORPHA:3164
Necrotizing Enterocolitis
Gastroschisis ORPHA:391673
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... OMIM:203300
Renal And Mullerian Duct Hypoplasia
Frontal bossing, Short nose, Severe postnatal growth retardation, Micrognathia OMIM:266810
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, Pancreatitis, ... ORPHA:405
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Microcephaly, Cerebral atrophy, Growth delay, Hypoplasia of the corpus callosum, Sh... OMIM:252150
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Thin ribs ORPHA:169189
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas... ORPHA:163746
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia, Lipoma, Pancreatitis, Chondrocalcinosis ORPHA:99880
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Congenital Fibrosis Of Extraocular Muscles
Plagiocephaly, Hypogonadotropic hypogonadism, Hand oligodactyly ORPHA:45358
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Abnormal dental enamel morphology, ... ORPHA:79430
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Syndromic Diarrhea
Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volu... ORPHA:84064
Tetrasomy 9P
Hypoplastic scapulae, Dental crowding, Abnormal dental enamel morphology, Median cleft lip and pa... ORPHA:3310
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Failure to thrive OMIM:229600
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Congenital Ptosis
Cafe-au-lait spot, Long eyelashes, Piebaldism, Premature ovarian insufficiency ORPHA:91411
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Duplication Of Urethra
Rectourethral fistula, Anal fistula, Gastroschisis, Anal atresia ORPHA:237
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Rhinitis, Short nose OMIM:305100
Penile Agenesis
Posteriorly rotated ears, Short nose, Depressed nasal bridge, Cloacal abnormality ORPHA:49
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Frontal bossing, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Aqu... OMIM:619534
Holoprosencephaly 2
Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft lip and palate, Semilobar ... OMIM:157170

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 Rpl38

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 Rpl38.

No publications found that use IMPC mice or data for Rpl38.

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
Rpl38tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rpl38tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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