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Gene: Ihh MGI:96533

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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:
Indian hedgehog
Synonyms:
N/A

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 Ihh mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brachydactyly, Type A1, D
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... OMIM:616849
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... OMIM:156530
Eiken Syndrome
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... ORPHA:79106
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Broad nasal tip, De... ORPHA:166016
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... ORPHA:93351
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... OMIM:614078
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... OMIM:228520
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized os... OMIM:215045
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... ORPHA:2741
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Bilateral single transvers... ORPHA:2639
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... OMIM:269250
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Delayed epiphyseal ossification, Tachypnea, Narrow chest, Death in childhood, Death i... OMIM:613320
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A... ORPHA:1836
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Metaphyse... OMIM:618961
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho... ORPHA:90650
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Absent radius, Lat... OMIM:171480
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Enlarged epiphyses, Metaphyseal dysplasia, Thoracic kyphoscoliosi... OMIM:613330
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Enlargement ... OMIM:271650
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... ORPHA:93296
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Thoracomelic Dysplasia
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexib... ORPHA:1803
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the han... ORPHA:1842
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short... OMIM:118651
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Ve... OMIM:108720
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... ORPHA:2496
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Neonatal ... OMIM:602471
Three M Syndrome 1
Mandibular prognathia, Joint dislocation, Clinodactyly of the 5th finger, Spina bifida occulta, S... OMIM:273750
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... OMIM:223800
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... OMIM:164900
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ... OMIM:201170
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... ORPHA:2019
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Narrow chest, Neonatal short-limb short stature, Severe limb sh... OMIM:151210
Brachydactyly Type A1
Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys... ORPHA:93388
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Disprop... ORPHA:1856
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Anteverted nares, Depr... OMIM:313420
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foo... OMIM:617405
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ili... ORPHA:1452
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Narrow chest, Short ribs, Ab... OMIM:600972
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Asth... OMIM:616716
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora... OMIM:132400
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... OMIM:210720
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ... OMIM:249600
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Cubitus valgus, Abnormality of body height, Humeroradial synostosis, Progressi... OMIM:186570
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ... OMIM:600002
Acrodysostosis
Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Sh... ORPHA:950
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... OMIM:271665
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... OMIM:206920
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Abnormal... ORPHA:3268
Greenberg Dysplasia
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... OMIM:215140
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal b... ORPHA:140
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,... ORPHA:85166
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... OMIM:607326
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... OMIM:227270
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid... OMIM:619598
Fibrochondrogenesis
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depressed nasal brid... ORPHA:2021
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Barrel-shaped chest, ... OMIM:271700
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st... ORPHA:2249
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ri... ORPHA:2831
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Flexion contracture, Decrease... OMIM:616897
Seckel Syndrome 1
Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, Prominent nose, Cl... OMIM:210600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Multiple joint d... OMIM:618395
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... ORPHA:2141
Steel Syndrome
Carpal synostosis, Pes planus, Anteverted nares, Short stature, Hip dislocation, Wide nasal bridg... OMIM:615155
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Overtubulated long bones, S... OMIM:618150
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatar... OMIM:166250
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas... ORPHA:1788
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, 2-3 toe... OMIM:600920
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Fibrochondrogenesis 2
Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w... OMIM:614524
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
3M Syndrome
Congenital hip dislocation, Micromelia, Enlarged thorax, Clinodactyly of the 5th finger, Hypoplas... ORPHA:2616
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo... ORPHA:3121
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Enterocolitis OMIM:142623
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... ORPHA:93394
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ... OMIM:119600
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin... OMIM:224400
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac... OMIM:187600
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Delayed skeletal maturation, Fi... OMIM:612447
Omodysplasia 2
Short humerus, Depressed nasal bridge, Micrognathia, Bifid nasal tip, Wide nasal bridge, Fibular ... OMIM:164745
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H... ORPHA:93333
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad met... ORPHA:56304
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste... ORPHA:2470
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... OMIM:200610
Prieto Syndrome
11 pairs of ribs, Coxa valga, Prominent nose, Osteoporosis, Patellar subluxation, Talipes equinov... OMIM:309610
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Severe short stature, Talipes, Coxa valga, Metatarsus adductus... ORPHA:2557
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Micrognathia, Delayed ep... OMIM:114290
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... ORPHA:210122
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... OMIM:120400
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger ORPHA:1471
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped... OMIM:250420
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Un... OMIM:616300
Langer Mesomelic Dysplasia
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... ORPHA:2632
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of ... ORPHA:2491
Achondroplasia
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... OMIM:100800
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
Van Bogaert-Hozay Syndrome
Depressed nasal bridge, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand,... OMIM:277150
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Miscarriage, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ... ORPHA:1865
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... OMIM:609945
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar disl... ORPHA:93328
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Anteverted nares, Micrognathia, Postnatal growth retard... OMIM:619135
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Depressed nasal bridge, Short stature, Micromelia, Micrognathia... OMIM:241800
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Hypophosphatasia, Infantile
Death in infancy, Apnea, Craniosynostosis, Bowing of the legs, Micromelia, Increased susceptibili... OMIM:241500
Blomstrand Lethal Chondrodysplasia
Micrognathia, Accelerated skeletal maturation, Narrow chest, Neonatal short-limb short stature, D... ORPHA:50945
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... OMIM:612961
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... OMIM:211350
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
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
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... OMIM:251450
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Enlargement of the costoc... OMIM:609052
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... ORPHA:1106
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... ORPHA:3250
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Fl... OMIM:222765
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... ORPHA:52056
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Absent thumb, Absent radius, Missing ribs, Micromelia, Humeroradial ... OMIM:251230
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... OMIM:224300
Syngnathia
Cleft palate OMIM:119550
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Micrognathia, Wide nasal bridge, Prenatal death, Camptodact... OMIM:618393
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... ORPHA:85170
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydact... OMIM:617895
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Hand muscle atrophy, Short stature, Delayed skeletal maturation, Ankle clonus, Resp... OMIM:600561
Seckel Syndrome 4
11 pairs of ribs, Severe short stature, Underdeveloped nasal alae, Steep acetabular roof, Intraut... OMIM:613676
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bow... OMIM:601559
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, Clinodactyl... OMIM:268305
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi... OMIM:602557
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Hypoplas... OMIM:615349
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypopla... OMIM:613091
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... ORPHA:2256
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, ... OMIM:272460
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:172880
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Anteverte... ORPHA:1512
Multiple Synostoses Syndrome 2
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Pr... OMIM:610017
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... OMIM:602849
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Depressed nasal bridge, Short stature, Abnormal rib morphology, Wide n... ORPHA:1513
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Depressed... OMIM:300863
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... OMIM:142900
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, ... OMIM:617925
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:96334
Waardenburg Syndrome, Type 3
Mandibular prognathia, Scapular winging, Camptodactyly of finger, Prominent nasal bridge, Wide na... OMIM:148820
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Choanal atresia, Mic... OMIM:156400
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... OMIM:271640
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... ORPHA:628
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal nasal morphology... ORPHA:2878
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... ORPHA:566943
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short stature, Postaxial polydactyly,... OMIM:614091
Atelosteogenesis, Type Ii
Death in infancy, Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, La... OMIM:256050
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized oste... ORPHA:1423
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Mi... ORPHA:958
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Depr... ORPHA:166272
Orofaciodigital Syndrome Viii
Syndactyly, Short stature, Broad nasal tip, Bifid nasal tip, Polydactyly, Short tibia, Recurrent ... OMIM:300484
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasi... ORPHA:2370
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... ORPHA:388
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... OMIM:250220
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos... OMIM:252600
Mesomelic Dysplasia, Savarirayan Type
Short stature, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal tho... OMIM:605274
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... OMIM:184260
Grant Syndrome
Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Short stature, Micrognathia,... ORPHA:2097
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... OMIM:304120
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t... OMIM:212780
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th... ORPHA:957
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Short s... OMIM:122860
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ... OMIM:605282
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... OMIM:274000
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
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost... ORPHA:2756
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:600081
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Depressed nasal bridge, Ulnar bowing, Fem... OMIM:620076
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Feingold Syndrome
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia ORPHA:1305
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal encho... ORPHA:2635
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Anteverted nares, Depressed nasal ... OMIM:616809
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max... OMIM:224690
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the ph... OMIM:615630
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Missing ribs, Micromelia, Micrognathia... OMIM:617866
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Enlarged joints, Short stature, Bowing of the legs, Pectus excavatum, Disproportionate short-limb... ORPHA:156728
Otoonychoperoneal Syndrome
Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Knee flexion contra... OMIM:259780
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Choanal stenosis, Narrow chest, Abnormality of the wrist, El... ORPHA:95699
Omodysplasia 1
Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizomelia, Depress... OMIM:258315
Osteopathia Striata With Cranial Sclerosis
Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th fi... OMIM:300373
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Malar flatte... ORPHA:53271
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Kinsship Syndrome
Osteopenia, Pes planus, Mandibular prognathia, Death in infancy, Short stature, Single transverse... OMIM:619297
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Pterygium, Craniosynostosis, Micromelia, Micrognat... ORPHA:93329
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Micrognathia, Respiratory insufficiency due ... OMIM:611890
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... OMIM:156230
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ... OMIM:225500
Diastrophic Dysplasia
Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio... OMIM:222600
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Intellectual Developmental Disorder, X-Linked 91
Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose OMIM:300577
Acromicric Dysplasia
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... OMIM:102370
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... OMIM:250460
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... OMIM:177170
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Delayed puberty, Clinodactyly of the ... ORPHA:217340
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... OMIM:194350
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Aganglionic megacolon OMIM:304100
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Wide nose, Micrognathia, Malar flattening, Clinodactyly, Thick nasal alae ORPHA:357175
Hyperparathyroidism, Transient Neonatal
Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Anteverted nares, Metaphysea... OMIM:618188
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth OMIM:218650
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... OMIM:268310
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... OMIM:602196
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Short distal phalanx of finger, Easily subluxated first metacarpo... OMIM:311895
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Jejunal Atresia
Jejunal atresia OMIM:243600
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middle phalanx of finger, Abnorm... ORPHA:63442
Melnick-Needles Syndrome
Obtuse angle of mandible, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped epiphyses of the... OMIM:309350
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Wide nasal bridge, Sympha... ORPHA:710
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Joint stiffness, Delayed skeletal matur... ORPHA:969
Achondrogenesis Type 1B
Severe short stature, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathi... ORPHA:93298
Meier-Gorlin Syndrome 3
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum... OMIM:613803
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:277440
Cooper-Jabs Syndrome
Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Short statu... ORPHA:1488
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Wide nose, Micrognathia, Malar flattening, Clinodactyly, Thick nasal alae OMIM:615162
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion... OMIM:618618
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... ORPHA:988
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi... OMIM:143095
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a... OMIM:173800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Hip contracture, Vertebral fusion, Short stature, Tarsal synostosis, Elbow c... OMIM:178110
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Cranioectodermal Dysplasia 1
Single transverse palmar crease, Narrow chest, Joint laxity, Rhizomelia, Anteverted nares, Sagitt... OMIM:218330
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Anteverted nares, Recurrent fractures, Micromelia, ... ORPHA:93299
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Anteverted nares, Thoracolumb... OMIM:252500
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ... OMIM:607078
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Convex nasal ridge, Brachydac... ORPHA:1277
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morpho... ORPHA:2790
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... ORPHA:474
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... OMIM:166210
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Hypoplastic ac... OMIM:169550
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis OMIM:600501
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathi... ORPHA:163649
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Short toe, Shor... OMIM:269860
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Metaphyseal Anadysplasia
Bowing of the long bones, Short stature, Abnormal morphology of ulna, Joint stiffness, Abnormalit... ORPHA:1040
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ... ORPHA:397715
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Accelerated skel... OMIM:277590
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:241530
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis OMIM:618155
Waardenburg Syndrome Type 3
Narrow nasal bridge, Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutane... ORPHA:896
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Subaortic Stenosis-Short Stature Syndrome
Anteverted nares, Short stature, Micrognathia, Respiratory insufficiency, Synostosis of carpal bo... ORPHA:3191
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or ... ORPHA:66637
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Prom... ORPHA:1005
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Depressed nasal bridge, Broad nasal tip, Metat... ORPHA:2804
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Delayed skeletal maturation, Hy... OMIM:617604
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Aganglionic megacolon, Exocrine pancreatic insufficiency, Malabsorption ORPHA:452
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Thoracic h... ORPHA:221054
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Wide nose, Short femur, Sandal gap, Rhizomelia, Hypoplasia o... OMIM:607143
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
L1 Syndrome
Skeletal muscle atrophy, Aganglionic megacolon ORPHA:275543
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Ectopic tooth eruption... OMIM:606893
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... OMIM:239000
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Waardenburg-Shah Syndrome
Intestinal obstruction, Aganglionic megacolon, Abnormal intestine morphology ORPHA:897
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Short stature, Postaxial polydactyly, Lateral clavicle hook, ... OMIM:615503
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Knee dislocation, Amelogene... OMIM:618363
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Reduce... ORPHA:2911
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... ORPHA:356961
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... OMIM:611263
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
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
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Respiratory... ORPHA:1832
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo... OMIM:617974
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia ORPHA:79107
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Distal Duplication 5Q
Hypoplasia of the ulna, Short stature, Prominent nasal bridge, Craniosynostosis, Absent thumb, Mi... ORPHA:96097
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Missing ribs, Micrognathia, Split h... OMIM:200980
Ivic Syndrome
Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb,... ORPHA:2307
Metaphyseal Acroscyphodysplasia
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Sev... ORPHA:1240
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Interph... OMIM:613870
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Joint stiffness, Micrognathia, Abnorma... ORPHA:1323
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Pe... ORPHA:63446
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phal... OMIM:609616
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Opsismodysplasia
Abnormally ossified vertebrae, Severe short stature, Depressed nasal bridge, Tapered finger, Pect... ORPHA:2746
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Cardiospondylocarpofacial Syndrome
Severe short stature, Short palm, Failure of eruption of permanent teeth, Synostosis of carpal bo... ORPHA:3238
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Depressed nasal brid... OMIM:619479
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger ORPHA:2787
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... OMIM:151200
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Glycosylphosphatidylinositol Biosynthesis Defect 11
Tented upper lip vermilion, Macroglossia, Elevated circulating alkaline phosphatase concentration... OMIM:616025
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Micrognathia, Flexion contracture, Hip dislocation, Elbow flexion contracture, Hyperext... ORPHA:75840
Ulbright-Hodes Syndrome
Respiratory distress, Micrognathia, Phocomelia, Short metacarpal, Depressed nasal bridge, Humeror... ORPHA:3404
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Depressed nasal bridge, Joint stiffness, Disproportionate short stature... ORPHA:40
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Pectus excavatum, D... OMIM:615398
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postax... OMIM:617102
Boomerang Dysplasia
Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na... OMIM:112310
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnorma... ORPHA:2145
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa... ORPHA:2633
Femoral-Facial Syndrome
Short femur, Short stature, Micrognathia, Abnormal rib morphology, Rib fusion, Abnormal fibula mo... ORPHA:1988
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... OMIM:190351
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss... OMIM:210710
Juberg-Hayward Syndrome
Wide nose, Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal ... ORPHA:2319
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... ORPHA:289157
Ruvalcaba Syndrome
Short metacarpal, Short stature, Micromelia, Underdeveloped nasal alae, Limited elbow extension, ... OMIM:180870
Occipital Horn Syndrome
Joint laxity, Short humerus, Pes planus, Persistent open anterior fontanelle, Pelvic bone exostos... OMIM:304150
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Ulnar dev... OMIM:618291
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal stippling, Abno... ORPHA:177
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Short stature, Absent thumb, Unilateral radial aplasia, Hypoplasia of the... OMIM:614900
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... OMIM:608728
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Spina bifida occulta... OMIM:218600
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Neonatal respiratory distress, Anteverted nares, Micrognathia,... OMIM:616266
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... ORPHA:246
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Hypochondroplasia
Brachydactyly, Depressed nasal bridge, Aplasia/hypoplasia of the extremities, Flared metaphysis, ... OMIM:146000
Orofaciodigital Syndrome Ix
Toe syndactyly, Short stature, Broad nasal tip, Bifid nasal tip, Hand polydactyly, Camptodactyly,... OMIM:258865
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Short stature, Hypoplasia of the maxilla, Delayed skeletal maturation, Genu valgum, S... OMIM:608154
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars... OMIM:614613
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Abno... ORPHA:2378
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Short stature, Humeroradial synost... OMIM:134780
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Respiratory insufficiency, Restr... OMIM:614399
Thoracopelvic Dysostosis
Neonatal respiratory distress, Short stature, Short ribs OMIM:187770
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Miscarriage, Short hallux, Proximal placement ... ORPHA:2438
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis ORPHA:2010
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys... ORPHA:2631
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Pe... OMIM:263750
Heart Defects-Limb Shortening Syndrome
Death in infancy, Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Dispropo... ORPHA:1354
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Intrauterine growth ... ORPHA:85284
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Laron Syndrome
Severe short stature, Abnormal joint morphology, Delayed skeletal maturation, Short long bone, Li... OMIM:262500
Cerebrocostomandibular Syndrome
Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl... OMIM:117650
Smith-Mccort Dysplasia 2
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ... OMIM:615222
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Co... ORPHA:2484
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... OMIM:601356
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A... ORPHA:2204
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Coxa valga, Prominent nose, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral ta... ORPHA:2958
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th... ORPHA:429
Hyperekplexia 4
Flexion contracture, Respiratory failure, Distal arthrogryposis, Talipes equinovarus, Camptodacty... OMIM:618011
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border o... OMIM:161200
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplas... OMIM:276820
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, Patchy reduction of bone m... ORPHA:221120
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Arachnodactyly, Long palm, Choanal atresia, Missing ribs, Dyspnea, Abnormal... ORPHA:2759
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... ORPHA:2879
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polyda... OMIM:258860
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... ORPHA:968
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Anteverted nares, Camptod... ORPHA:1327
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... OMIM:300244
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Limited knee flexion/extension, R... ORPHA:266
Shox-Related Short Stature
Short stature, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm ... ORPHA:314795
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... ORPHA:1427
Hallermann-Streiff Syndrome
Natal tooth, Recurrent fractures, Tracheomalacia, Micrognathia, Choanal atresia, Underdeveloped n... ORPHA:2108
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ... ORPHA:168555
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon ORPHA:1438
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... OMIM:165590
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Pulmonary arterial hyperten... OMIM:619751
Achondrogenesis
Severe short stature, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathi... ORPHA:932
Autosomal Recessive Robinow Syndrome
Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Bilateral single transverse palma... ORPHA:1507
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Splenomegaly, Malabsorption ORPHA:100025
Catel-Manzke Syndrome
Joint dislocation, Single transverse palmar crease, Micrognathia, Pectus carinatum, Clinodactyly ... OMIM:616145
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Fl... ORPHA:93307
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop... OMIM:611717
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... OMIM:185700
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Short stature, Talipes, Camptodactyly of finger, Micrognathia, Delayed skeletal... ORPHA:1495
Kniest Dysplasia
Respiratory distress, Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing,... OMIM:156550
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short p... OMIM:266920
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Single transverse palmar crease, Micromelia, Accelerated skeletal maturation, ... OMIM:618870
Hypophosphatasia
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Emphysema, Abnorm... ORPHA:436
Piebald Trait
Aganglionic megacolon OMIM:172800
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Thoracomelic Dysplasia
Bell-shaped thorax, Disproportionate short-limb short stature, Short ribs OMIM:273740
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Coxa vara, Pectus carinatum, Halberd-shaped... OMIM:184252
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Down-sloping shoulders, Palmar pits, Plantar pits, Irreg... OMIM:109400
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Rhizomelia, Depressed nasal bridge, Short stature, Micrognathia, Abnorma... ORPHA:3098
Liebenberg Syndrome
Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur... OMIM:186550
Feingold Syndrome Type 2
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ... ORPHA:2909
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Pectus carinatum, Reduced bone mineral density, Delayed ossification of carpal bon... OMIM:618392
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto... ORPHA:171839
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... ORPHA:93360
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Short stature, Lower limb asymmetry, Osteoarthritis, Generali... ORPHA:85198
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Short... ORPHA:289
Osteogenesis Imperfecta, Type X
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... OMIM:613848
Desbuquois Syndrome
Severe short stature, Genu recurvatum, Camptodactyly of finger, Anteverted nares, Coxa valga, Elb... ORPHA:1425
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... OMIM:300554
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Long nose, Delayed skeletal maturation, Abnormal rib morpho... ORPHA:52
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... OMIM:602875
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Short stature, Coxa valga, Cari... OMIM:269300
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w... OMIM:617809
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones... OMIM:620269
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Recu... OMIM:616229
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ... OMIM:263650
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Micromelia, Osteoarthritis, Short thorax, Abnormal epiphysis morphology ORPHA:93283
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Death in infancy, Rhizomelia, Short stature, Micrognathia, Metaphyseal chondrodysplas... ORPHA:163966
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, Tapered finger, Flat capital... OMIM:612350
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ri... ORPHA:166277
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Severe short stature, Thoracic hypoplasia, Bowing of the legs, Delayed epiphyseal o... ORPHA:93352
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Delayed skelet... ORPHA:93324
Desbuquois Dysplasia 2
Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow... OMIM:615777
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarpals, Thoraci... OMIM:300232
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Depressed nasal bridge, Micromelia, Micrognathia, Dys... ORPHA:3015
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Micrognathia, Accelerated skeletal maturation, Multiple joint dislocation, Pectus car... OMIM:245600
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Short stature, Osteomalacia, Recurrent fractures, Abnormal thorax morphology, ... ORPHA:93160
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En... OMIM:307800
Short Stature, Brussels Type
Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Narrow chest, Ca... ORPHA:2867
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Promine... OMIM:618356
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... ORPHA:370010
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Dentinogenesis i... OMIM:259440
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Genu varum... OMIM:271510
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Thin upper lip vermilion, Dental crowding, Low alkaline phosphatase OMIM:618879
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... OMIM:154400
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... OMIM:269150
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... ORPHA:85184
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Short stature, Proximal femoral metaphyseal irregularity, Recur... OMIM:602271
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome... ORPHA:239
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Depressed nasal ridge, Respiratory failure, Narrow chest, Limb undergrowth, Abnorm... ORPHA:1861
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Brachydactyly, Club-shaped proximal femur, Severe short stature, Anterior rib cupping... OMIM:184250
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Anteverted nares, Abnormal dental enamel morphology,... ORPHA:582
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr... OMIM:155310
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Craniosynostosis, Fibular aplasia OMIM:218550
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ... ORPHA:439822
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Depressed nasal bridge, C... OMIM:616723
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Split hand, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Cupped ribs, Metaphy... OMIM:608940
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Carious ... OMIM:244460
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Anteverted nares, Cone-shaped epiphyses of the phalanges of ... ORPHA:420794
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho... ORPHA:296
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Abnormal rib morp... ORPHA:1486
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Short nose, Short nasal sep... OMIM:302950
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... ORPHA:1352
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the... OMIM:113000
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Narrow nasal bridge, Broad hallux, Depressed nasal bridge, Clinodactyly of the ... OMIM:620073
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... OMIM:164280
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Non-Distal Duplication 10Q
Depressed nasal bridge, Short stature, Micrognathia, Pectus excavatum, Joint hyperflexibility, Sh... ORPHA:1695
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... OMIM:614732
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... ORPHA:166011
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Respiratory insufficiency, Epiphyseal ... ORPHA:1914
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Pycnodysostosis
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... ORPHA:763
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Cleft palate ORPHA:66629
Fatco Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... ORPHA:2492
Nievergelt Syndrome
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Mesomelic short s... OMIM:163400
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br... OMIM:300106
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Prominent nasal bridge, Joint stiffness, Long nose, Postn... OMIM:619184
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Femoral retroversion OMIM:607371
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Depressed nasal bridge, Wi... OMIM:616482
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Pierpont Syndrome
Wide nose, Short stature, Broad nasal tip, Short toe, Broad palm, Short foot, Deep plantar crease... OMIM:602342
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Abnorm... ORPHA:1458
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Short stature, Micromelia, Abnormal thu... ORPHA:1597
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon ORPHA:261222
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ... ORPHA:319195
Dysplasia Epiphysealis Hemimelica
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff... ORPHA:1822
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae, Hypoplastic cervic... ORPHA:79345
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Micrognathia, Abnormal foot morphology, Flexion contracture, 2-3 toe synd... OMIM:618186
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... ORPHA:3035
Haddad Syndrome
Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Anteverted nares, Missing ribs, Short thorax, Abnormal rib morphology, Wide... ORPHA:1797
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Atelosteogenesis Type I
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... ORPHA:1190
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Narrow nasal bridge, Toe syndactyly, Short stature, ... ORPHA:3082
Dysostosis, Stanescu Type
Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Persistent open an... ORPHA:1798
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... OMIM:614814
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Joint laxity, Overlapping toe, Single transverse palmar crease, Anteverted nares, Depre... ORPHA:254528
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... OMIM:603546
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... ORPHA:1529
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nares, Short sta... OMIM:211750
American Trypanosomiasis
Splenomegaly, Hepatomegaly, Achalasia, Aganglionic megacolon ORPHA:3386
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C... OMIM:255800
Coxoauricular Syndrome
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... ORPHA:1508
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Wide nasal bridge, Resp... OMIM:224410
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus cari... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Joint laxity, Mandibular prognathia, Rhizomelia, Metaphyseal widening, Irreg... OMIM:612813
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Focal Dermal Hypoplasia
Narrow nasal bridge, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Abnormal dental ... ORPHA:2092
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Join... ORPHA:1147
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Sho... OMIM:619636
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Anal... ORPHA:59315
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... ORPHA:249
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Hand polydactyly, Neonatal death OMIM:314390
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Anteverted nares, Short stature, Reduced bone mineral density, Slender long bone... ORPHA:1185
Familial Visceral Myopathy
Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the ab... ORPHA:2604
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Thanatophoric Dysplasia
Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Short ... ORPHA:2655
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Severe short stature, Depressed nasal bridge, Osteomalacia, Coxa v... ORPHA:1901
Jacobsen Syndrome
Cryptorchidism, Pyloric stenosis, Flexion contracture, Optic atrophy, Intrauterine growth retarda... OMIM:147791
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly OMIM:614684
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Rocker bottom foot, Wide nasal bridge, Respiratory failure, Camptodactyl... OMIM:618804
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Long nose, Patellar hypoplasia, Short phalanx of finger, Genu varu... ORPHA:221016
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Short stature, Micrognathia ORPHA:2015
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Micrognathia, Reduced bone mineral density, Barrel-shaped chest, Abnormal... ORPHA:94068
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occ... ORPHA:1514
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop... ORPHA:1860
Shprintzen-Goldberg Syndrome
Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio... ORPHA:2462
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Delayed skeletal maturation, Flexion contracture, Hip dysplasia, Short nose OMIM:618379
Mosaic Trisomy 14
Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Lower limb asymmetry, Microgna... ORPHA:1703
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Prominent nasal bridge, Short... OMIM:617927
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... ORPHA:3168
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Hypoplasia of... OMIM:609813
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Aganglionic megacolon, Malabsorption ORPHA:935
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Short stature, Jo... ORPHA:2107
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... OMIM:300009
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Short... ORPHA:163654
Distal Duplication 18Q
Arachnodactyly, Camptodactyly of finger, Anteverted nares, Micrognathia, Pectus excavatum, Cariou... ORPHA:1716
Ulna Metaphyseal Dysplasia Syndrome
Short stature, Abnormal morphology of ulna, Delayed skeletal maturation, Depressed nasal ridge, A... ORPHA:1837
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Abnormality of alkaline phosphatase level, Delayed eruption of permanent teeth, Nar... OMIM:619356
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Delayed skeletal matu... OMIM:602111
Short Stature, Dauber-Argente Type
Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... OMIM:619489
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Genu ... ORPHA:2502
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor... OMIM:615633
Diarrhea 9
Villous atrophy OMIM:618168
Orofaciodigital Syndrome Type 2
Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, Shor... ORPHA:2751
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Pheochromocytoma, Parathy... OMIM:171400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Abnormal thorax morpho... ORPHA:508542
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Shor... ORPHA:2636
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal thor... ORPHA:73230
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares ORPHA:1450
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... OMIM:616007
Seckel Syndrome 5
11 pairs of ribs, Pes planus, Short stature, Prominent nasal bridge, Micrognathia, Delayed skelet... OMIM:613823
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Hip dislocation, Respiratory insufficiency, Calf muscle hypertrophy,... ORPHA:370968
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Depressed nasal bridge, Short stature, Postaxial polydactyly, Postaxial han... OMIM:617088
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Anteverted nares, Short stature, Micrognathia, Asthma, Small hand, Fibular hypopla... ORPHA:444077
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Single transverse palmar crease, Short stature, Micrognathia, Bulbous nose, Wid... OMIM:613604
Cartilage-Hair Hypoplasia
Micromelia, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Depressed nasal ridge,... ORPHA:175
Difference Of Sex Development-Intellectual Disability Syndrome
Short thorax, Reduced bone mineral density, Genu valgum, Short nose, Spina bifida occulta ORPHA:2983
Autosomal Recessive Hypophosphatemic Rickets
Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Genu varum, Increased ... ORPHA:289176
Moebius Syndrome
Syndactyly, Brachydactyly, Split hand, Hand clenching, Abnormal pelvic girdle bone morphology, Ta... OMIM:157900
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal ... OMIM:618577
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon ORPHA:52503
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... OMIM:305400
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Enlarged joints, Anteverted nares, Depressed nasal bridge, Large tarsal bon... OMIM:215150
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Distal Deletion 12Q
Unilateral cryptorchidism, High, narrow palate, Esophageal atresia, Pyloric stenosis, Elbow flexi... ORPHA:96149
Opsismodysplasia
Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Short metacarpal... OMIM:258480
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sin... OMIM:114300
Cardiospondylocarpofacial Syndrome
Joint laxity, Anteverted nares, Tarsal synostosis, Short stature, Delayed skeletal maturation, Bu... OMIM:157800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Optic atrophy, Furrowed tongue, Gastroesophageal reflux, High palate, Intrauterin... OMIM:616975
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death... OMIM:300717
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Overlapping toe, Genu recurvatum, Anteverted nares, Depressed nasa... OMIM:617301
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, High palate, Elbow contracture, Knee flexion contracture OMIM:618162
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Accelerated skele... ORPHA:1895
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Short tubular b... OMIM:184253
Pontocerebellar Hypoplasia, Type 1C
Joint contracture, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Braddock Syndrome
Neonatal respiratory distress, Short stature, Micrognathia, Pectus excavatum, Preaxial hand polyd... ORPHA:52047
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis mo... ORPHA:2643
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Tapered finger, Hip dysplasia, Clinodactyly of the 5th finger, Sh... OMIM:617991
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... OMIM:610915
Jacobsen Syndrome
Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Abnormality of the anus, Ectopic anus, ... ORPHA:2308
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Micromelia, Apnea, Flexi... OMIM:610015
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hyperextensibility of the knee, Hypoplasia of the maxill... OMIM:601812
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi... ORPHA:93356
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Duodenal Atresia
Duodenal atresia OMIM:223400
Hypophosphatasia, Childhood
Carious teeth, Low alkaline phosphatase, Premature loss of primary teeth OMIM:241510
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia, Abnormality of the lower limb, Hy... ORPHA:245
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clinodactyly, Short nose ORPHA:261120
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Short stature, Down-sloping shoulde... OMIM:606071
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Myopathy, High palate, Pheochrom... OMIM:162300
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... OMIM:253010
Laurin-Sandrow Syndrome
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... OMIM:135750
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Diastasis recti, Asplenia, Esophageal atresia, Tracheoesophageal fistula,... OMIM:265380
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Short stature, Prema... OMIM:105835
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, C... ORPHA:2059
Small Bowel Atresia
Intestinal hypoplasia, Intrauterine growth retardation, Jejunal atresia, Intestinal malrotation ORPHA:1201
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Rhizomelia, Depressed nasal bridge, Craniosynostosis, Micrognathia, Pec... OMIM:613610
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Short stature, Proximal placement of thumb, Absent thumb, Short th... OMIM:613390
Cdags Syndrome
Sagittal craniosynostosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Malar flatte... OMIM:603116
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Tongue fasciculations ORPHA:329475
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Short stature, Choanal s... OMIM:619859
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Joint dislocation, Knee flexion contracture, Spina bifida occulta, Wrist f... OMIM:193700
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Short stature, Genu valgum, Joint hyper... ORPHA:1035
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... OMIM:619334
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... OMIM:616829
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... ORPHA:2519
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hip contracture, Cleft palate, Knee flexion contracture, Intrauterine growth retardation, Annular... ORPHA:488642
Bohring-Opitz Syndrome
Facial hypotonia, Optic atrophy, Bilateral wrist flexion contracture, Cleft palate, Congenital co... ORPHA:97297
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Abnormal clavicle morphology, Short stature, Camptodactyly of ... ORPHA:3138
Renpenning Syndrome
Mandibular prognathia, Severe short stature, Joint stiffness, Pectus excavatum, Abnormal thumb mo... ORPHA:3242
Radial Ray Hypoplasia With Choanal Atresia
Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin... OMIM:179270
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... OMIM:123150
Pancreatic Colipase Deficiency
Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency, Steatorrhea ORPHA:309108
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo... OMIM:226980
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Trisomy 8P
Multiple joint contractures, Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasia/Hy... ORPHA:264450
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Broad nasal tip, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Re... ORPHA:488434
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
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
Verheij Syndrome
Joint laxity, Vertebral fusion, Anteverted nares, Short stature, Broad nasal tip, Hip dislocation... OMIM:615583
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... OMIM:617201
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... ORPHA:2928
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia... ORPHA:3440
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Short stature, Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Growth ... ORPHA:157215
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Bronchiectasis OMIM:241600
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Prominent nose, Talipes equ... ORPHA:453510
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... ORPHA:1422
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac win... ORPHA:198
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Anal stenosis, Aganglionic megacolon, Cleft palate OMIM:614749
Osteogenesis Imperfecta, Type Vii
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... OMIM:610682
Arthrogryposis Multiplex Congenita 5
Micrognathia, Flexion contracture, Death in infancy, Neonatal respiratory distress, Anteverted na... OMIM:618947
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Split hand, Wide nasal bridge, Respiratory failure ORPHA:168486
Peho-Like Syndrome
Short nose, Retrognathia, Tapered finger OMIM:617507
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... OMIM:216340
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Short distal phalanx of finger, Lambdoidal craniosynostosis, Coxa valga OMIM:601370
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... ORPHA:2772
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Three M Syndrome 2
Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Severe short stature, Anteverte... OMIM:612921
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ... OMIM:620099
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ... OMIM:618265
Panner Disease
Limited elbow movement, Abnormality of the humerus, Irregular articular surfaces of the elbow joi... ORPHA:97336
Anauxetic Dysplasia 1
Barrel-shaped chest, Hip contracture, Joint laxity, Mandibular prognathia, Rhizomelia, Severe sho... OMIM:607095
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Short stature, Missing ribs, Pectus excavatum, Reduced forced ... OMIM:613686
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Short stature, Micromelia, Short thorax, Limitation of joint mobility, Re... ORPHA:93274
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Prominent nasal bridge, Micromelia, Delayed skeletal maturation... ORPHA:2220
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... ORPHA:2475
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, H... OMIM:268300
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Bilateral single transverse palmar creases, Short stature, ... ORPHA:1786
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Depressed nasal bridge, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal ... ORPHA:93271
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus OMIM:222748
Geleophysic Dysplasia 1
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Short stature, Coxa valga, Pec... OMIM:231050
Ear-Patella-Short Stature Syndrome
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Ap... ORPHA:2554
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Short stature, Pectus excavatum, Carious teeth, Delayed skeletal maturation, Ab... ORPHA:2701
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Wide nose, Anteverted nares, Down-sloping shoulders, Proportionate short stature, D... ORPHA:391408
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, Clinodactyly of the 5th finger, Short nose, Tall stature ORPHA:217385
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Accelerated skelet... ORPHA:561
Xylt1-Cdg
Joint laxity, Pes planus, Joint dislocation, Short stature, Coxa valga, Accelerated skeletal matu... ORPHA:370930
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Shor... ORPHA:96148
Focal Dermal Hypoplasia
Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Foot oligodact... OMIM:305600
Congenital Contractural Arachnodactyly
Intestinal malrotation, Camptodactyly of finger, Flexion contracture, Tracheoesophageal fistula, ... ORPHA:115
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short stature, Micrognathia, Pectus excavatum, Malar prominence, Ab... ORPHA:2522
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Piebaldism
Aganglionic megacolon ORPHA:2884
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... ORPHA:2180
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... ORPHA:536467
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Narrow chest, Genu varum, Long toe, Anteverted nares, Depresse... OMIM:264090
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Acromelic Frontonasal Dysostosis
Syndactyly, Broad nasal tip, Bifid nasal tip, Preaxial polydactyly, Preaxial foot polydactyly, Pa... OMIM:603671
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Joint laxity, Mandibular prognathia, Rhizomelia, Abnormal respiratory system... ORPHA:171866
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Annular pancreas, Tracheoesophageal fistula, Cryptorchidism OMIM:227646
Familial Expansile Osteolysis
Elevated circulating alkaline phosphatase concentration, Premature loss of teeth, Fragile teeth OMIM:174810
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Delaye... ORPHA:221008
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... ORPHA:93258
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Waardenburg Syndrome Type 1
Aganglionic megacolon, Cleft palate ORPHA:894
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Anteverted nares, Depressed nasa... OMIM:217980
Orofaciodigital Syndrome V
Aganglionic megacolon, Unilateral cryptorchidism, Hamartoma of tongue, Optic disc coloboma, Cleft... OMIM:174300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Narrow nasal ridge, Micrognathia, Flexion contracture, Hypoplasia of te... OMIM:608612
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Joint hyperflexibility, Abnormal epiphysis morphology,... ORPHA:90653
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Anteriorly placed anus, Aganglionic megacolon, Cleft palate, Abnormal rectum morphology OMIM:239300
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu... OMIM:619143
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration OMIM:606263
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Respiratory insufficiency, Missing ribs ORPHA:1759
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Choanal stenosis, Neonatal death, Long hallux, D... OMIM:259775
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Shoulder girdle muscle weakness, Respiratory failure OMIM:604801
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... ORPHA:536471
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura... ORPHA:93317
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Rhizomelia, Short stature, Abnormali... ORPHA:319182
3C Syndrome
Finger syndactyly, Death in infancy, Depressed nasal bridge, Short stature, Missing ribs, Microgn... ORPHA:7
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Micrognathia, Generalized joint laxity, Thoracic kypho... ORPHA:508498
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Pes planus, Short stature, Single transverse palmar crease, Prominent nasal bridge,... OMIM:613544
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Short stature, Spontaneous neonatal pneumothorax, Delayed closure of th... OMIM:225410
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Recurren... ORPHA:2050
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T... ORPHA:1307
Spondylocostal Dysostosis 5
Vertebral fusion, Severe short stature, Missing ribs, Disproportionate short-trunk short stature,... OMIM:122600
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Clino... ORPHA:84
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia ORPHA:3405
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Flexion contracture, Rec... ORPHA:391372
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Short stature, Prominent nasal bridge, Delayed skeletal maturation, Li... ORPHA:3068
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Rocker bottom foot, Delayed eruption of permanent teeth, Clinodactyly of the 5t... OMIM:618506
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... OMIM:151050
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Phaver Syndrome
Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Short thu... ORPHA:2876
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f... ORPHA:508533
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Respirat... ORPHA:171430
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Short thumb, Wide n... ORPHA:401935
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Short stature, Bowing of the legs OMIM:146350
Atelosteogenesis, Type Iii
Radial bowing, Sandal gap, Rhizomelia, Depressed nasal bridge, Micrognathia, Tombstone-shaped pro... OMIM:108721
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Prominent nose, Long... OMIM:256040
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Anteverted nares, Micrognathia, Broad nasal tip, Short stature, Wide na... OMIM:618529
Rothmund-Thomson Syndrome, Type 2
Anteriorly placed anus, Cryptorchidism, Annular pancreas, High palate OMIM:268400
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Met... OMIM:263210
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Down Syndrome
Aganglionic megacolon, Protruding tongue, Narrow palate, Macroglossia, Anal atresia ORPHA:870
Noonan Syndrome 12
11 pairs of ribs, Pectus excavatum, Proximal placement of thumb OMIM:618624
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Small hypothenar eminence, Wide nose, Arachnodactyly, Joint hypermobility, Tall statu... ORPHA:2463
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg... ORPHA:3078
Oculodentodigital Dysplasia
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Clinodactyly of the 5th finger... ORPHA:2710
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon... OMIM:619736
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes ORPHA:2513
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Accelerated skeletal maturation, Pectus carinatum, Narrow greater sciatic ... OMIM:312870
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... ORPHA:3186
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Kagami-Ogata Syndrome
Long clavicles, Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathia, Long fingers,... OMIM:608149
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br... ORPHA:93259
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal ... ORPHA:1295
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
1P36 Deletion Syndrome
Camptodactyly of finger, Pyloric stenosis, Cryptorchidism, Abnormality of the spleen, Optic atrop... ORPHA:1606
Osteosclerotic Metaphyseal Dysplasia
Elevated circulating alkaline phosphatase concentration OMIM:615198
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Depressed nasal bridge, Talipes, Rhizomelia, Short stature, Narrow chest OMIM:617661
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Arthrogryposis multiplex congenita, Mic... ORPHA:163746
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Rhizomelia, Anteve... OMIM:611209
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Short stature, Abnormal toe morphology, Abnormal carpal morpholo... OMIM:216100
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Pectus exca... OMIM:619131
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Camptodactyly of finger, Flexion contracture, Growth delay, Respiratory failure... ORPHA:1194
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Tetrasomy 9P
Joint dislocation, Aplasia/Hypoplasia of the clavicles, Hypoplastic scapulae, Bilateral single tr... ORPHA:3310
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Anteverted nares, Camptodactyly of finger, Dep... ORPHA:2311
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Long thorax, Limb undergrowth, Ove... OMIM:619142
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Severe short stature, Abno... ORPHA:93316
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Micrognathia, Generalized joint laxity, Tibial bowing, Clinodactyly of the 5th finger... ORPHA:251028
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ... ORPHA:2547
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Death in infancy, Short thorax, Short long bone, Talipes equinovarus OMIM:618845
Schinzel-Giedion Syndrome
Streak ovary, Aganglionic megacolon, Anteriorly placed anus, Macroglossia, High palate, Dysphagia... ORPHA:798
Talonavicular Coalition
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... OMIM:186750
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Micrognathia, Missing ribs,... ORPHA:3301
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper ... ORPHA:64755
Tarp Syndrome
Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Sing... OMIM:311900
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose OMIM:125700
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Anteverted nares, Tapered finger, Bulbous nose, Flexion contracture, Respiratory failure, Pes cavus OMIM:616505
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs, Vertebral f... OMIM:139210
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Aganglionic megacolon, Cleft palate OMIM:614207
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi... ORPHA:3429
Ritscher-Schinzel Syndrome 1
Syndactyly, Depressed nasal bridge, Micrognathia, Missing ribs, Intrauterine growth retardation OMIM:220210
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Short stature, Convex nasal ridge, Abnormal fingertip morpho... ORPHA:90154
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a... OMIM:619658
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Talipes, Absent thumb, Aplasia/Hypoplasia of the distal phalan... ORPHA:1234
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Partial dup... OMIM:616331
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Short distal phalanx of finger ORPHA:2776
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Short stature, Micrognathia, Cranial hyperostosis, Flared metaphy... OMIM:259720
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joi... ORPHA:2176
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... OMIM:614856
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Orofaciodigital Syndrome Type 5
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Bifid uvula ORPHA:2919
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Anteverted nares, Single transverse palmar crease, Short stature, 2-3 toe syndactyly,... OMIM:614701
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Larsen Syndrome
Finger syndactyly, Depressed nasal bridge, Short stature, Craniosynostosis, Large joint dislocati... ORPHA:503
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Flexion contracture OMIM:615348
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... OMIM:214900
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Cleft palate ORPHA:220497
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Respiratory failure, Depressed nasal bridge, Death in infancy OMIM:614862
Cartilage-Hair Hypoplasia
Esophageal atresia, Anal stenosis, Aganglionic megacolon, Malabsorption OMIM:250250
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Image Syndrome
Metaphyseal dysplasia, Depressed nasal bridge, Micromelia, Intrauterine growth retardation ORPHA:85173
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Short femur, Apnea, Flexion contracture, Growth delay, Polyd... ORPHA:17
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Micrognathia, Wrist swelling, Limitation of joint mobility, Osteolysis, ... ORPHA:2774
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Fanconi Anemia, Complementation Group W
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Polysplen... OMIM:617784
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Smith-Kingsmore Syndrome
Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Wide anterior fontanel, Dee... OMIM:616638
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Abnormal foot morphology, O... ORPHA:1657
Ohdo Syndrome
Joint laxity, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Abnormal foo... OMIM:249620
Teebi Hypertelorism Syndrome 1
Natal tooth, Anteverted nares, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, S... OMIM:145420
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... OMIM:112350
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Mandibular prognathia, Prominent metopic ridge, Pectus excavatum, De... ORPHA:488632
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Polysplenia, Duodenal atresia OMIM:619608
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Supernumerary nipple, Anteriorly placed anus, High palate, Bifid uvula ORPHA:247262
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Respiratory failure... ORPHA:171433
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Respiratory distress, Edema of the dorsum of feet, Tapered finger, Delayed s... ORPHA:544503
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Cryptorchidism, Flexion contracture, Optic atrophy, Macroglossia, Gastroes... ORPHA:847
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Depressed nasal bridge, P... ORPHA:46627
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Schwartz-Jampel Syndrome
Apnea, Micromelia, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in... ORPHA:800
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, Broad clavicles, M... OMIM:269500
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Micromelia, Adducted thumb, Short nose, Bilateral single ... ORPHA:50810
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Tetrasomy 5P
Respiratory distress, Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Pectus excav... ORPHA:3309
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Congenital contracture, Respiratory failure OMIM:225753
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Elevated circulating alkaline phosphatase concentration, Tented upper l... OMIM:615716
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
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon ORPHA:2318
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyl... OMIM:616546
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t... ORPHA:1318
Colonic Atresia
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... ORPHA:1198
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Polydactyly, Intrauterine growth retardation, Short nose, Hypoplastic ischia OMIM:616910
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta... OMIM:182212
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... ORPHA:1647
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cry... OMIM:229850
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Respiratory distress, Overlapping toe, Anteverted nares, Delayed skeletal ma... OMIM:619383
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Bone pain, Rickets, Growth delay, Tooth abscess ORPHA:89937
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Severe short stature, Arachnodactyly, Camptodactyly o... ORPHA:2215
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
Auriculoosteodysplasia
Abnormal clavicle morphology, Short stature, Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia... ORPHA:114
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Underdeveloped nasa... ORPHA:2083
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Congenital c... OMIM:615042
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Postnatal growth retardation, Pectus carinatum, Intrauterine growth r... OMIM:615419
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... ORPHA:70
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Short stature, Hip dislocation, Wide nasal bridge, Limb undergrowth, Intrauterine gro... OMIM:618005
Clark-Baraitser Syndrome
Depressed nasal bridge, Sandal gap, Anteverted nares, Clinodactyly, Short nose, Low hanging colum... OMIM:617752
Cerebral Creatine Deficiency Syndrome 1
Ileus, Aganglionic megacolon OMIM:300352
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Death in infancy, Depressed nasal bridge, Single tra... OMIM:617425
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Avascular necrosis of the capital femoral epiphysis, S... ORPHA:77258
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... ORPHA:261211
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Short nose, Growth delay, Anteverted nares ORPHA:531
20Q11.2 Microduplication Syndrome
Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Pectus excavatum, Wide nasal b... ORPHA:363659
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Re... OMIM:609465
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Thoracic scoliosis, Micrognathia, Flexion contracture, Scapular winging, Wi... OMIM:620369
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... OMIM:218000
Joubert Syndrome
Aganglionic megacolon ORPHA:475
Fanconi Renotubular Syndrome 3
Growth delay, Rickets, Short stature, Bowing of the legs OMIM:615605
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Abnormal bone ossificat... ORPHA:93315
Robinow Syndrome
Micrognathia, Fused thoracic vertebrae, Syndactyly, Anteverted nares, Depressed nasal bridge, Sho... ORPHA:97360
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Intrauterine growth... OMIM:604320
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Cleft palate ORPHA:220493
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Re... OMIM:612301
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Flexion contracture, Depres... OMIM:312150
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Apnea, Accelerated skeletal maturation, D... OMIM:602535
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Aganglionic megacolon OMIM:613266
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wide anterior fontan... OMIM:207410
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, P... OMIM:227330
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine ... ORPHA:1506
Acrofrontofacionasal Dysostosis
Short stature, Camptodactyly of finger, Micromelia, Broad nasal tip, Abnormal epiphysis morpholog... ORPHA:1784
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... ORPHA:3206
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... OMIM:614753
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia OMIM:620306
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... OMIM:235555
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Talipes equinovalgus, Pectus carinatum, Hip dysplasia, Short... OMIM:617183
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Joint stiffness, Recurrent upper respiratory tract infections, D... ORPHA:583
Hypophosphatasia, Adult
Carious teeth, Premature loss of permanent teeth, Low alkaline phosphatase, Premature loss of pri... OMIM:146300
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Short stature, Coxa valga, Micrognathia, Hammertoe, Distal arthrogryposis... OMIM:619833
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cryptorchidism, Cleft palate, Ectopic anus, High palate, Anal atresia ORPHA:2473
Mosaic Trisomy 8
Wide nose, Anteverted nares, Camptodactyly of finger, Short stature, Micrognathia, Broad nasal ti... ORPHA:96061
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Short stature, Abnormality of the hand... ORPHA:369891
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, Lower limb asymmetry... ORPHA:99330
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... ORPHA:3027
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Persistent open anterior fontanelle, Arachnodactyly, Bilateral talipes equinovarus,... OMIM:615539
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature ORPHA:195
Alg6-Cdg
Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Jaundice ORPHA:79320
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Intrauterine growth retardation,... ORPHA:485405
Rhyns Syndrome
Osteopenia, Radial bowing, Short stature, Delayed skeletal maturation, Osteoporosis, Short long b... OMIM:602152
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e... OMIM:616294
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal t... ORPHA:666
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Bifid nasal tip, Depressed nasal ridge, Short nose, D... OMIM:616854
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Postaxial hand polydactyly, Short stature, Short nose ORPHA:1389
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Reduced vital capacity, Achilles tendon contracture, Calf muscle hypertrophy, R... OMIM:603689
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Short hallux, Coxa valga, Accelerated ... ORPHA:1517
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin... OMIM:606851
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Micrognathia, Missing ribs, Abnormal rib morphology, Abno... ORPHA:1834
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Recur... ORPHA:2590
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly OMIM:600430
Arterial Tortuosity Syndrome
Respiratory distress, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular... ORPHA:3342
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Flexion contracture, Depres... OMIM:253290
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... OMIM:619057
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Achilles tendon contracture, Calf muscle hypertrophy, Restri... OMIM:606612
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Congenital Heart Defects And Skeletal Malformations Syndrome
Pes planus, Arachnodactyly, Sandal gap, Narrow nose, Short stature, Pectus excavatum, Carious tee... OMIM:617602
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Ac... OMIM:130070
Frank-Ter Haar Syndrome
Osteopenia, Micrognathia, Short palm, Short phalanx of finger, Cortical irregularity, Anteverted ... OMIM:249420
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly ORPHA:1436
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Chronic lung disease, Acute respiratory distress syndrome, Depressed nasal brid... OMIM:620005
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib... ORPHA:1163
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz... OMIM:180700
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Short stature, Dentinogenesis imperfecta, Hip d... OMIM:616507
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Wide nose, Depressed nasal bridge, Short stature, Bulbous nose, Flared metaphysis, ... OMIM:610442
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Hypoplastic vertebral bodies, Long toe, Anteverted nares, Short stature, 2-3 toe synd... ORPHA:3455
Al-Raqad Syndrome
Joint laxity, Short nose, Sandal gap, Brachydactyly OMIM:616459
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Bulbous... OMIM:236500
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Pec... ORPHA:496641
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita, Retrognathia,... OMIM:615330
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Abnormality of the autonomic n... OMIM:611376
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Short nose, Sandal gap, Short stature OMIM:300887
Pallister-Hall Syndrome
Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly, Anteverted na... OMIM:146510
Central Hypoventilation Syndrome, Congenital, 1
Ineffective esophageal peristalsis, Aganglionic megacolon, Abnormal autonomic nervous system phys... OMIM:209880
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br... ORPHA:93260
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Smith-Magenis Syndrome
Mandibular prognathia, Pes planus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Dela... ORPHA:819
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Short stature, Prominent fingertip pads, Short nose OMIM:300558
Bardet-Biedl Syndrome 1
Decreased testicular size, Aganglionic megacolon, High, narrow palate, Biliary tract abnormality,... OMIM:209900
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Sandal gap, Single transverse palmar crease, Depressed nasal bridge, Tapered fi... OMIM:617061
Isolated Klippel-Feil Syndrome
Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ... ORPHA:2345
Gracile Bone Dysplasia
Death in infancy, Short stature, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull... OMIM:602361
Alkuraya-Kucinskas Syndrome
Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal foot morphology... OMIM:617822
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Sandal gap, Short stature, Micrognathia, Clavicular pseudarthrosis, Promin... OMIM:156200
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Retrognathia, Growth delay, Respirat... ORPHA:2707
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Broad nasal tip, Metatarsus adductus, Short toe, 4-5 toe... ORPHA:3041
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Postaxial hand polydactyly, Narrow chest, Short nose ORPHA:1702
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short stature, Tapered finger OMIM:618367
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bilateral single transverse palmar creases, Proximal placement of thumb, Abnorm... ORPHA:1120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo... OMIM:608836
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration OMIM:174050
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... ORPHA:2768
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, Clinodact... OMIM:122470
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger OMIM:277450
Seckel Syndrome 7
Severe short stature, Prominent nose, Delayed skeletal maturation, Abnormal carpal morphology, Ma... OMIM:614851
Ramos-Arroyo Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Xerostomia, Smooth tongue ORPHA:1051
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal bridge, Camptodactyly of finger, Short stature, Joint stif... ORPHA:354
Oculomaxillofacial Dysostosis
Brachydactyly, Short stature, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, ... ORPHA:1794
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex... OMIM:265000
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,... ORPHA:1652
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili... ORPHA:3265
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Prominent nose, Delayed skeletal maturation, Abnormal carpal morphology, Madelung ... ORPHA:319675
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Single transverse palmar crease, Depressed nasal bridge, 2-3 toe syndactyly, Cl... OMIM:613443
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Mckusick-Kaufman Syndrome
Cryptorchidism, Aganglionic megacolon, Anal atresia, Rectovaginal fistula OMIM:236700
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... ORPHA:79319
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... ORPHA:86822
Larsen Syndrome
Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hypoplastic cervical ... OMIM:150250
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Depressed nasal brid... OMIM:614114
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Pr... ORPHA:1225
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Aganglionic megacolon OMIM:613603
Lowry-Maclean Syndrome
Osteopenia, Short nasal bridge, Single transverse palmar crease, Craniosynostosis, Micrognathia, ... ORPHA:2409
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Microcephaly-Capillary Malformation Syndrome
Wide nose, Short stature, Hypoplasia of the maxilla, Clinodactyly, Short distal phalanx of finger... OMIM:614261
Martsolf Syndrome 1
Joint laxity, Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata... OMIM:212720
Meckel Syndrome, Type 8
Depressed nasal ridge, Polydactyly, Talipes equinovarus, Narrow chest, Short nose OMIM:613885
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Pneumonia, Bowing of the legs, H... ORPHA:1855
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger... ORPHA:435638
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Short stature, Underdevelope... OMIM:615866
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Cirrhosis, Steatorrhea OMIM:602579
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Esophageal carci... ORPHA:139507
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Triceps weakness, Weakness of long fi... ORPHA:98913
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Anteverted nares, Camptodactyly of finger, Depres... ORPHA:93473
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Wide nose, Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Depressed nas... OMIM:201750
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Desmosterolosis
Increased bone mineral density, Severe short stature, Depressed nasal bridge, Talipes, Micromelia... ORPHA:35107
Perlman Syndrome
Anteverted nares, Micrognathia, Wide nasal bridge, Short nose, Retrognathia, Tall stature, Bilate... ORPHA:2849
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Sho... OMIM:614008
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... OMIM:619484
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... ORPHA:2070
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
4Q21 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micromelia, Small hand, Short foot, Growth delay, Short p... ORPHA:238750
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Overlapping toe, Anteverted nares, Depressed nasal bridge, Prominent nose, Pectus excav... OMIM:618316
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Acholic sto... OMIM:607765
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Short stature, Anterior rib cupping, Metaphy... OMIM:260400
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of... ORPHA:1765
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration OMIM:239100
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Short stature ORPHA:1355
Odontotrichoungual-Digital-Palmar Syndrome
Single transverse palmar crease, Short first metatarsal, Prominent interdigital folds, Short dist... OMIM:601957
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Prominent nose, Underdeveloped nasal alae, Delayed skeletal maturation, Disproportion... ORPHA:2637
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongue morphology, Primary hyperparat... ORPHA:653
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short 5th... OMIM:136140
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Micrognathia, Prominent nose, Sho... ORPHA:363528
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankle, Short stature, Tarsal synostosis ORPHA:1412
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Sprengel anomal... OMIM:213980
Geleophysic Dysplasia 2
Short stature, Joint stiffness, Delayed skeletal maturation, Limitation of joint mobility, Respir... OMIM:614185
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Hypoplasia of the maxilla,... ORPHA:560
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Depressed nasal bridge, Pectus excavatum, Long nose, Slender long bone, Malar flatten... OMIM:618590
Toriello-Carey Syndrome
Aganglionic megacolon, Cryptorchidism, Cleft palate, Anteriorly placed anus, High palate, Intraut... ORPHA:3338
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... OMIM:265120
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Meier-Gorlin Syndrome 6
Microretrognathia, Severe short stature, Sandal gap, Anteverted nares, Depressed nasal bridge, Un... OMIM:616835
Anauxetic Dysplasia 3
Short metacarpal, Joint hypermobility, Hip subluxation, Wide anterior fontanel, Squared iliac bon... OMIM:618853
Diamond-Blackfan Anemia 1
11 pairs of ribs, Short stature, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication... OMIM:105650
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Micrognathia, Femoral bowing, Short long bone, Broad ribs, Narrow... OMIM:617022
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Short metacarpal, Toe syndactyly, Scapular winging, Short metatarsal, Small hand, S... OMIM:170390
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Limb hypertonia OMIM:609460
Chromosome 19Q13.11 Deletion Syndrome, Distal
Overlapping toe, Anteverted nares, Short stature, Micrognathia, Carious teeth, Underdeveloped nas... OMIM:613026
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Episodic tachypnea, Micrognathia, Apneic episodes in infancy, Supernumerary rib... ORPHA:163961
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Positional foot deformity, Pectus carinatum, Hip dysplasia, ... ORPHA:496790
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Pes planus, Short stature, Prominent nasal bridge, Proximal placement of th... ORPHA:251071
Lethal Acantholytic Erosive Disorder
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Respiratory failure, Clinodactyly of t... ORPHA:158687
Trisomy 12P
Short stature, Micrognathia, Delayed skeletal maturation, Wide nasal bridge, Large hands, Clinoda... ORPHA:1699
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Gastroesophageal refl... ORPHA:2896
Bainbridge-Ropers Syndrome
Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finger, Choanal stenos... OMIM:615485
Fanconi Anemia, Complementation Group I
Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Int... OMIM:609053
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Nasal polyposis, Productive cough, Wheezing, Clubbing, Bronchiecta... ORPHA:244
Wiedemann-Steiner Syndrome
Joint laxity, Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Sho... OMIM:605130
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Attrv122I Amyloidosis
Left ventricular hypertrophy, Abnormal enteric nervous system morphology, Tendon rupture, Abnorma... ORPHA:85451
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... OMIM:101400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... OMIM:167800
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respira... OMIM:245400
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Long hallux, Tapered finger OMIM:619854
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Apnea, Micrognathia, Short nose, Delayed cranial suture closure ORPHA:1129
Familial Adenomatous Polyposis 4
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Fanconi Anemia, Complementation Group P
Short stature, Micrognathia, Absent thumb, Short thumb, Bulbous nose, Hypoplasia of the radius, G... OMIM:613951
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Congenital hip dislocation, Ankle flexion contracture, Micrognathia, Pectus exca... ORPHA:2020
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Depressed nasal bridge, Anteverte... ORPHA:314655
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Short long bone, Polydactyly, Narrow chest, Brachydactyly OMIM:613819
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... OMIM:616867
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Apnea, Rocker bottom foot, ... ORPHA:521426
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Elevated circulating alkaline phosphatase concentration, Hypoplasia of teeth OMIM:613312
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Nabais Sa-De Vries Syndrome, Type 1
Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clin... OMIM:618828
Say Syndrome
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Tapered finger OMIM:181180
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Pes cavus, Short stature OMIM:245570
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Tapered finger, Wide nasal bridge, Hypoplasia of teeth, Thoracic kyphosis, Overgrow... OMIM:620250
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Single transverse palmar crease, Talipes, Flexion contracture, Lim... ORPHA:79243
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Pectus ca... OMIM:616430
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... ORPHA:3201
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Severe short stature, Distal clavicular thinning, Micromelia, Bell-shaped thora... OMIM:600092
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs OMIM:271520
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
Fetal Hydantoin Syndrome
Short stature, Depressed nasal ridge, Triphalangeal thumb, Intrauterine growth retardation, Short... ORPHA:1912
Cutis Laxa, Autosomal Recessive, Type Iia
Pes planus, Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, ... OMIM:219200
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathi... OMIM:610536
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Malar flattening, Short nose, Retrognathia, Broad nasal tip OMIM:613670
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Knee contractu... OMIM:620278
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Short stature, Craniosynostosis, Wide anterior fontanel, Wormian bones, Malar f... OMIM:601853
Dpm1-Cdg
Sandal gap, Depressed nasal bridge, Micrognathia, Knee flexion contracture, Camptodactyly, Limb u... ORPHA:79322
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Anteverted nares, Short nose ORPHA:46
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
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
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Narrow nose, Underdeveloped nasal alae, Carious teeth, 4-5... OMIM:164200
Weill-Marchesani Syndrome 1
Thin bony cortex, Depressed nasal bridge, Short stature, Proportionate short stature, Joint stiff... OMIM:277600
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol... ORPHA:233
Stickler Syndrome
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Depressed ... ORPHA:828
Baker-Gordon Syndrome
Joint laxity, Abnormal foot morphology, Short nose, Prominent nasal tip OMIM:618218
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa... OMIM:312170
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon ORPHA:3339
Leopard Syndrome 1
Mandibular prognathia, Scapular winging, Short stature, Limited elbow movement, Missing ribs, Pec... OMIM:151100
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Sandal gap, Accelerated skeletal maturation, Tapered finger, Bulbous nose... OMIM:618430
Tarp Syndrome
Finger syndactyly, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pec... ORPHA:2886
Alg9-Cdg
Microretrognathia, Prominent metopic ridge, Ulnar deviation of the hand, Rhizomelia, Depressed na... ORPHA:79328
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Death in childhood, D... OMIM:619127
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Grant Syndrome
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Satoyoshi Syndrome
Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Abnormality o... ORPHA:3130
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... ORPHA:668
Endocrine-Cerebroosteodysplasia
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Na... OMIM:612651
Macrocephaly-Intellectual Disability-Autism Syndrome
Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly ORPHA:210548
Hallermann-Streiff Syndrome
Micrognathia, Metaphyseal widening, Supernumerary tooth, Tracheomalacia, Recurrent pneumonia, Den... OMIM:234100
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Alagille Syndrome 1
Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Abnormal rib morphology,... OMIM:118450
Orofaciodigital Syndrome Type 4
Joint dislocation, Micromelia, Micrognathia, Depressed nasal ridge, Aplasia/Hypoplasia of the tib... ORPHA:2753
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... OMIM:101800
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasi... ORPHA:50
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Delayed puberty, Micrognathia ORPHA:2598
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis... ORPHA:667
Intermediate Osteopetrosis
Elevated circulating alkaline phosphatase concentration, Abnormal dental morphology, Dental maloc... ORPHA:210110
Fatty Acyl-Coa Reductase 1 Deficiency
Growth delay, Short nose, Depressed nasal bridge, Short stature ORPHA:438178
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien... OMIM:245650
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Coxa valga, Hypoplastic vertebral bodies, Limb undergrowth, Thoracolumbar kyphos... OMIM:230600
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Trisomy 1Q
Microretrognathia, Wide nose, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Depressed ... ORPHA:261344
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, ... OMIM:617527
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration OMIM:616833
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Chylomicron Retention Disease
Increased hepatocellular lipid droplets, Myopathy, Fat malabsorption, Steatorrhea, EMG: myopathic... ORPHA:71
5Q14.3 Microdeletion Syndrome
Short nose, Toe syndactyly, Anteverted nares ORPHA:228384
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Talipes... ORPHA:1908
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Cholestasis, Protein-losing enteropathy, Camptodactyly, Intrauterin... OMIM:608104
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Cleft palate, ... OMIM:243605
Costello Syndrome
Barrel-shaped chest, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal b... OMIM:218040
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Neonatal respiratory distress, Short stature, Camptodactyly of finger, Multipl... ORPHA:2990
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Micrognathia... ORPHA:1974
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Anteverted nares, Depressed nasal bridge, Flexion contracture, Wide nasal brid... OMIM:619124
Slc39A8-Cdg
Osteopenia, Short stature, Sudden episodic apnea, Craniosynostosis, Elbow flexion contracture, Kn... ORPHA:468699
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Recurrent joint dislocation, Decreased palmar creases, Craniosynostosis, Taper... ORPHA:2953
Nablus Mask-Like Facial Syndrome
Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Craniosynostosis, Hypo... OMIM:608156
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Trismus, Flexion contracture, Osteoporosis, R... ORPHA:2671
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Malar flatteni... ORPHA:79113
Mitochondrial Complex I Deficiency, Nuclear Type 18
Wide anterior fontanel, Respiratory failure, Death in infancy OMIM:618240
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Peho Syndrome
Short nose, Edema of the dorsum of feet, Retrognathia, Tapered finger OMIM:260565
Toluene Embryopathy
Short stature, Micrognathia, Tapered finger, Hypoplasia of the zygomatic bone, Short nose ORPHA:1920
Aymé-Gripp Syndrome
Prominent metopic ridge, Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered fi... ORPHA:1272
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Joint stif... ORPHA:2588
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Sh... OMIM:115150
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Depressed nasal bridge, Short stature, Proportionate short st... OMIM:608328
Ventriculomegaly With Defects Of The Radius And Kidney
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb OMIM:602200
Acromelic Frontonasal Dysplasia
Broad nasal tip, Bifid nasal tip, Upper airway obstruction, Patellar hypoplasia, Talipes equinova... ORPHA:1827
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Micrognathia, Anteverted nares, Depressed nasal bridge, Tapered fing... OMIM:613458
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Patent ductus arteriosus, Esophageal varix, Inflammation of the la... OMIM:614576
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia OMIM:190685
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Micrognathia, Protruding tongue, Wide mouth, Elevated circulating alk... OMIM:618580
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Clinodactyly, Short nose OMIM:618087
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Steatorrhea OMIM:615935
Joubert Syndrome 21
Apnea, Dyspnea, Single naris, Bell-shaped thorax, Respiratory failure, Short ribs, Chronic sinusitis OMIM:615636
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Chronic hepatitis, Colitis, Cirrhosis, Intrauterine growth retarda... OMIM:614602
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, Coxa vara, Pectus carinatum, Short palm, Clinodactyly of the 5th finger... ORPHA:3107
Weiss-Kruszka Syndrome
Prominent metopic ridge, Anteverted nares, Single transverse palmar crease, Proximal placement of... OMIM:618619
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Antec... OMIM:618469
Cholesteryl Ester Storage Disease
Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Portal hype... OMIM:278000
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Accelerated skeletal maturation, Flexion contracture, Pectus carinatum, Narrow gr... OMIM:253220
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Short stature, Pectus excavatum, Bulbous nose, Wide nasal bri... OMIM:618571
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Dental maloccl... OMIM:616894
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short stature, Micrognathia, Flexion contracture, Osteoporosis, Short nose OMIM:615851
Baraitser-Winter Syndrome 1
Anteverted nares, Short stature, Postnatal growth retardation, Duplication of phalanx of hallux, ... OMIM:243310
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Abnormal thorax morphology, Epip... OMIM:302960
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand OMIM:300845
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... OMIM:303600
Cholestasis, Benign Recurrent Intrahepatic, 2
Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice OMIM:605479
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Elevated circulating alkaline phosphatase concentration OMIM:126550
Trisomy 20P
Finger syndactyly, Anteverted nares, Camptodactyly of finger, Talipes, Micrognathia, Preaxial han... ORPHA:261318
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Arachnodactyly, Bulbous nose, Malar flattening, Short nose OMIM:616420
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Depressed nasal bridge, Wide anterior fontanel, Dyspnea, Cardiorespiratory arre... ORPHA:26791
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Jaundice, Ele... OMIM:619662
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab... OMIM:214800
Cog8-Cdg
Skeletal muscle atrophy, Protein-losing enteropathy ORPHA:95428
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Congenital diaphragmatic hernia, Pyloric stenosis, Cryptorchidism, Abnorma... ORPHA:818
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Mis... OMIM:304050
Kbg Syndrome
Syndactyly, Vertebral fusion, Anteverted nares, Single transverse palmar crease, Prominent nasal ... OMIM:148050
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:613812
Mednik Syndrome
Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon OMIM:609313
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Pectus excavatum of inferior sternum, Depressed nasal bridge, Rocker bottom foot, Tapered finger,... OMIM:601353
Warburg Micro Syndrome 3
Micrognathia, Postnatal growth retardation, Flexion contracture, Ankle clonus, Clinodactyly of th... OMIM:614222
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Refractory Celiac Disease
Villous atrophy, Malabsorption, Protein-losing enteropathy, Jejunitis, Abnormal spleen physiology ORPHA:398063
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Wide nose, Short stature, Micrognathia, Neonatal asphyxia, Respiratory insuffic... OMIM:608779
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... ORPHA:87
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,... OMIM:231070
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Floating-Harbor Syndrome
Enlarged joints, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Dislocated radial ... ORPHA:2044
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Respiratory distress, Micrognathia, Dental malocclusion, Contractures of the large jo... ORPHA:329178
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Congenital hip dislocation, Long palm, Single transverse palmar cr... OMIM:244450
Ayme-Gripp Syndrome
Mandibular prognathia, Depressed nasal bridge, Short stature, Tapered finger, Pectus excavatum, S... OMIM:601088
Doors Syndrome
Respiratory distress, Abnormal finger morphology, Triphalangeal thumb, Aspiration pneumonia, Clin... ORPHA:79500
Rhiny
Short nose, Anteverted nares OMIM:180360
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Weakness of long finger extensor muscles, Respiratory failure,... ORPHA:609
16P13.11 Microdeletion Syndrome
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Short stature, Pectus excavatu... ORPHA:261236
Nicolaides-Baraitser Syndrome
Enlarged joints, Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joi... OMIM:601358
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Anteverted nares, Prominent nasal bridge, Recurrent pneumonia, Short 5th finger, Ac... ORPHA:500159
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Anteverted nares, Single transverse palmar crease, Micrognathia, Wide ... OMIM:247200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Birth ... OMIM:300868
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia OMIM:607598
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Micrognathia, Postaxial hand polydactyly, Supernume... OMIM:615948
Au-Kline Syndrome
Prominent metopic ridge, Overlapping toe, Wide nasal ridge, Postaxial polydactyly, Coxa valga, Pe... OMIM:616580
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Choanal atresia, Joint stiffness, Micrognathia, Split hand, Ab... ORPHA:1300
Desmosterolosis
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Generalized osteosclerosis,... OMIM:602398
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Anteverted nares, Broad hallux, Single transverse palmar crease, Depressed nasal bridge, Bulbous ... OMIM:614105
Trisomy 13
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Ectr... ORPHA:3378
Poikiloderma With Neutropenia
Joint laxity, Plantar hyperkeratosis, Depressed nasal bridge, Short stature, Micrognathia, Joint ... OMIM:604173
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Abnormal dental... ORPHA:85199
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Growth dela... OMIM:617247
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral fusion, Death in infancy, Severe short stature, Block vertebrae, Short stature, Rib fus... OMIM:277300
Microform Holoprosencephaly
Cleft palate, Intrauterine growth retardation, EMG: myopathic abnormalities, Panhypopituitarism, ... ORPHA:280200
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypoparathyroidism, Aganglionic megacolon, Intestinal malrotation, C... ORPHA:567
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Micrognathia, Prominent nose, Clinodactyly of the 5th finger, Anteverted na... ORPHA:177907
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Pectus excavatum, Abnormal... ORPHA:1812
Hypophosphatemic Rickets, Autosomal Dominant
Elevated circulating alkaline phosphatase concentration, Abnormality of the dentition OMIM:193100
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness ORPHA:2064
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration OMIM:615424
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short stature, Underdeveloped nasal alae, Respiratory insufficiency, Clinodacty... ORPHA:2031
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Delayed eruption of primary teeth, Absent radius, Short thu... OMIM:149730
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... OMIM:214950
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal d... OMIM:270400
Fanconi Anemia, Complementation Group B
Esophageal atresia, Intrauterine growth retardation, Tracheoesophageal fistula, Duodenal atresia OMIM:300514
8Q24.3 Microdeletion Syndrome
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar cr... ORPHA:508488
Cog1-Cdg
Osteopenia, Rhizomelia, Coxa valga, Micrognathia, Postnatal growth retardation, Rib fusion, Poste... ORPHA:263508
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... OMIM:613489
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Spina bifida o... OMIM:201000
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Tapered finger, Pectus excavatum, Pectus carinatum, Joint hyperflexibilit... ORPHA:65286
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Ankle clonus, Proximal muscle weakness in upper limbs, Respiratory failure OMIM:613954
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Anteverted nares, Short stature, Delayed closure of the anterior font... ORPHA:357074
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Knee contracture, ... OMIM:620249
Trisomy 10P
Thumb contracture, Wide cranial sutures, Anteverted nares, Depressed nasal bridge, Abnormality of... ORPHA:171929
19P13.13 Microdeletion Syndrome
Pes planus, Sandal gap, Anteverted nares, Depressed nasal bridge, Pectus excavatum, Long fingers,... ORPHA:357001
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal... ORPHA:364577
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Monosomy 9Q22.3
Delayed eruption of teeth, Accelerated skeletal maturation, Pectus excavatum, Palmar pits, Planta... ORPHA:77301
Trisomy 18
Microretrognathia, Short stature, Camptodactyly of finger, Choanal atresia, Abnormality of the lo... ORPHA:3380
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Growth delay, Rickets ORPHA:2088
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Short stature,... OMIM:614800
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Carey-Fineman-Ziter Syndrome
Anteverted nares, Short stature, Micrognathia, Aplasia of the pectoralis major muscle, Ulnar devi... ORPHA:1358
Alpha-Mannosidosis, Infantile Form
Osteopenia, Mandibular prognathia, Thickened ribs, Pectus carinatum, Cortical thickening of long ... ORPHA:309282
Scedosporiosis
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Abnormal respi... ORPHA:449280
Vitamin D-Dependent Rickets, Type 3
Elevated circulating alkaline phosphatase concentration OMIM:619073
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... ORPHA:464329
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia ORPHA:1200
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Anteverted nares, Short stature, Broad ischia, Wide nasa... OMIM:619727
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... OMIM:310200
Serkal Syndrome
Malrotation of small bowel, Congenital diaphragmatic hernia ORPHA:139466
Mccune-Albright Syndrome
Osteomalacia, Recurrent fractures, Accelerated skeletal maturation, Fibrous dysplasia of the bone... ORPHA:562
Mucopolysaccharidosis, Type X
Spatulate ribs, Broad clavicles, Disproportionate short-trunk short stature, Wide nasal bridge, G... OMIM:619698
Congenital Multicore Myopathy With External Ophthalmoplegia
Joint laxity, Pneumonia, Flexion contracture, Abnormal respiratory system physiology, Severe post... ORPHA:98905
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase OMIM:619985
Developmental Delay With Or Without Dysmorphic Facies And Autism
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Narrow nose, Shor... OMIM:618454
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mecke... ORPHA:2847
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Overlapping toe, Depressed nasal bridge, Craniosynostosis, Tapered finger, Pectus excavatum, Micr... OMIM:309590
Gm1 Gangliosidosis Type 1
Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Pectus carinatum, Hypoplastic vertebral ... ORPHA:79255
Peho Syndrome
Anteverted nares, Tapered finger, Flexion contracture, Limitation of joint mobility, Pedal edema,... ORPHA:2836
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Mosaic Trisomy 16
Syndactyly, Single transverse palmar crease, Abnormality of the nose, Short thumb, Abnormal thora... ORPHA:1708
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia OMIM:619227
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Short sternum, Malar flattening,... OMIM:222448
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... ORPHA:1328
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Accelerated skeletal maturation, Clinodactyly ... ORPHA:373
Nance-Horan Syndrome
Short phalanx of finger, Broad finger OMIM:302350
Mosaic Trisomy 9
Camptodactyly of finger, Rocker bottom foot, Micromelia, Micrognathia, Elbow dislocation, Bulbous... ORPHA:99776
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... OMIM:225400
6Q Terminal Deletion Syndrome
Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Prominent metopic ridge, Micrognathi... ORPHA:75857
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Short phalanx of finger OMIM:208060
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5t... OMIM:619269
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Postnatal growth retardation, Flexion contracture, Short... OMIM:614225
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Anteverted nares, Depressed nasal bridge, Cox... ORPHA:254519
C Syndrome
Joint dislocation, Death in infancy, Toe syndactyly, Bilateral single transverse palmar creases, ... ORPHA:1308
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Wide nose, Anteverted nares, Short stature, Micrognathia, Absent fronta... OMIM:102500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension OMIM:619431
Gaucher Disease, Perinatal Lethal
Respiratory distress, Anteverted nares, Depressed nasal bridge, Apnea, Micrognathia, Neonatal dea... OMIM:608013
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Prominent nasal bridge, Broad nasal tip, Long nose, Disproportionate short-limb sh... OMIM:616541
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Flexion contracture, Optic atrophy, High palate, Arthrogryposis multiplex congen... OMIM:601110
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, Intrauterine growth retardation, Short nose, Bilateral sing... ORPHA:1913
Restrictive Dermopathy 1
Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Depressed nasal brid... OMIM:275210
Congenital Disorder Of Glycosylation, Type Il
Delayed skeletal maturation, Short nose, Hip dislocation, Depressed nasal bridge OMIM:608776
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Anteverted nares, Short stature, Micrognathia, Pectus excavatum, Delayed skeletal matu... ORPHA:109
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Camptodactyly of finger, Rocker bottom foot, Elbow ... OMIM:208150
Gapo Syndrome
Anteverted nares, Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Mic... OMIM:230740
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Micrognathia, Underdevel... OMIM:619005
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Acrocallosal Syndrome
Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Tape... OMIM:200990
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos... ORPHA:263501
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Short nose OMIM:617802
Immunodeficiency 54
Short stature, Postnatal growth retardation, Respiratory insufficiency, Respiratory failure, Intr... OMIM:609981
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Metaphyseal widening, Metaphyseal chondromatos... ORPHA:99646
Jaberi-Elahi Syndrome
Depressed nasal bridge, Joint stiffness, Pectus carinatum, Talipes equinovarus, Hand clenching, S... OMIM:617988
Lathosterolosis
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Ta... ORPHA:46059
Cardiofaciocutaneous Syndrome
Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Short stature, Pectus exca... ORPHA:1340
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Gastrointestinal dysmotility, Intestinal malrotation, Duodenal atresia OMIM:617798
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Depressed nasal bridge, Sagittal craniosynostosis, Absent thumb, Hypoplasia of th... ORPHA:500150
Mitochondrial Trifunctional Protein Deficiency
Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Respiratory insufficiency, R... ORPHA:746
Distal Deletion 9P
Enlarged thorax, Short nose, Wide nasal bridge, Brachydactyly ORPHA:1642
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short stature, Pectus excavatum, Hypoplasia of the zygomatic bone, Malar ... ORPHA:2835
Alg12-Cdg
Wide nose, Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Micrognathia, P... ORPHA:79324
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Anteverted nares, Depressed nasal bridg... OMIM:252940
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Chops Syndrome
Anteverted nares, Short stature, Aspiration pneumonia, Tracheomalacia, Cervical C2/C3 vertebral f... OMIM:616368
Cornelia De Lange Syndrome
Proximal placement of thumb, Micromelia, Micrognathia, Clinodactyly of the 5th finger, Bilateral ... ORPHA:199
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Abnormal dental enamel morphology, Micrognathia, Choanal at... ORPHA:2750
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Fetal Alcohol Syndrome
Anteverted nares, Short stature, Micrognathia, Joint stiffness, Intrauterine growth retardation, ... ORPHA:1915
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Single transverse palmar crease, Prominent nasal bridge,... ORPHA:1449
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Micrognathia, Death in infancy, Short stature, Osteomalacia, Abnormal dent... ORPHA:534
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Short nose ORPHA:2429
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... ORPHA:913
Coffin-Siris Syndrome
Joint laxity, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad nasal ti... ORPHA:1465
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Pneumonia, Bron... OMIM:242860
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Depressed nasal bridge, Proportionate short stature, Micrognathia, Delay... OMIM:613457
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, Neonatal death, Intrauterine growth retardation, Recurrent a... OMIM:612289
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Elbow flexion contracture, Macroglossia, Protein-losi... OMIM:618440
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndact... OMIM:603467
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Anteverted nares, Single transverse palmar crease, Depressed nasal bridge,... OMIM:300912
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Coxa valga, Tapered finger, Abse... OMIM:301040
Tetrasomy 12P
Delayed eruption of teeth, Anteverted nares, Short stature, Delayed skeletal maturation, Joint hy... ORPHA:884
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
1-2 toe syndactyly, Broad hallux, Talipes, Tapered finger, Anteverted nares, Choanal atresia, Nar... OMIM:301044
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anteverted nares, Arachnodactyly, Depressed nasal bridge, Short stature, Abnormal thumb morpholog... ORPHA:2719
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Osteoporosis, Wide na... OMIM:607330
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis OMIM:209920
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... ORPHA:1199
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Short stature, Pectus excavatum, Delayed skeletal maturation, Tachypnea... OMIM:613658
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia OMIM:614744
Vater/Vacterl Association
Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Postnat... OMIM:192350
Menkes Disease
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Pe... ORPHA:565
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma... ORPHA:247806
Helsmoortel-Van Der Aa Syndrome
Short 4th toe, Clinodactyly of the 5th finger, Prominent fingertip pads, Advanced eruption of tee... OMIM:615873
Zttk Syndrome
Depressed nasal bridge, Short stature, Craniosynostosis, Hypoplasia of the maxilla, Flexion contr... OMIM:617140
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia OMIM:184400
Aspartylglucosaminuria
Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Joint stiffness, Carious teeth, D... ORPHA:93
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Micrognathia, Bulbous nose, 2... OMIM:620025
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatic failure, Elevated alkaline phosphatase of bone origin, Pro... OMIM:616828
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Micro Syndrome
Anteverted nares, Short stature, Micrognathia, Joint stiffness, Wide nasal bridge, Delayed pubert... ORPHA:2510
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Villous atrophy, Enterocolitis OMIM:616050
Infant Acute Respiratory Distress Syndrome
Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure ORPHA:70587
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Pes planus, Depressed nasal bridge, Malar flattening, Tapered finger, Hip dislocation, Genu valgu... OMIM:301066
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... ORPHA:1666
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal de... ORPHA:464
Monosomy 9P
Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, Abnormality ... ORPHA:261112
Multiple Synostoses Syndrome 4
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly OMIM:617898
Graft Versus Host Disease
Elevated hepatic transaminase, Trismus, Jaundice, Oral ulcer, Chronic hepatitis, Elevated circula... ORPHA:39812
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Postnatal growt... OMIM:257300
Neu-Laxova Syndrome 1
Finger syndactyly, Wide nose, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Microgna... OMIM:256520
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Prune Belly Syndrome
Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Talipes equinovarus ORPHA:2970
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Fraser Syndrome 2
Wide nose, Underdeveloped nasal alae, Short thorax, Cutaneous syndactyly, Respiratory failure OMIM:617666
Cerebrooculonasal Syndrome
Anteverted nares, Prominent nasal bridge, Craniosynostosis, Postaxial polydactyly, Proboscis, Pos... OMIM:605627
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Anteverted nares, Short stature, Postnatal growth retar... ORPHA:261323
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur... OMIM:263000
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Pyloric stenosis, Meckel diverticulum, Intrauterine growth retardation OMIM:616395
Epiphyseal Chondrodysplasia, Miura Type
Elevated alkaline phosphatase of bone origin OMIM:615923
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Depressed nasal bridge, Camptodactyly of finger, Delayed closure of the anterio... OMIM:607872
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Short stature, Retrognathia, Growth delay, Short middle phalanx of finger... OMIM:301030
Pontocerebellar Hypoplasia, Type 10
Tapered finger, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Growth delay, Short n... OMIM:615803
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Intrauterine growth retardation, Vertebral fusion,... OMIM:194190
Ogden Syndrome
Congenital hip dislocation, Apnea, Micrognathia, Clinodactyly of the 5th finger, Aspiration, Micr... OMIM:300855
Pallister-Hall Syndrome
Depressed nasal ridge, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Anteverted nares,... ORPHA:672
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections... OMIM:614069
Lowe Oculocerebrorenal Syndrome
Short stature, Osteomalacia, Camptodactyly of finger, Wrist swelling, Postnatal growth retardatio... OMIM:309000
Aggressive Systemic Mastocytosis
Portal hypertension, Malabsorption, Elevated circulating alkaline phosphatase concentration, Decr... ORPHA:98850
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology, Short stature, Micrognathia OMIM:601076
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Cryptorchidis... ORPHA:2241
Developmental And Epileptic Encephalopathy 95
Deep philtrum, Gingival overgrowth, Low alkaline phosphatase, Macroglossia, Elevated circulating ... OMIM:618143
Microphthalmia, Syndromic 3
Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Rib fusion, Supernum... OMIM:206900
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Short stature, Camptodactyly of finger, Trismus, Abnormal rib morphology, Palm... ORPHA:2907
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Wide anterior fontanel, Short nose, Congenital hip dislocation, Contracture of the proximal inter... ORPHA:457279
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Abnormal pattern of respiration ORPHA:833
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Short nose, Joint hypermobility OMIM:300143
Camurati-Engelmann Disease, Type 2
Elevated circulating alkaline phosphatase concentration OMIM:606631
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Short stature, Dyspnea, Limit... ORPHA:261494
Khan-Khan-Katsanis Syndrome
Short stature, Delayed closure of the anterior fontanelle, Postaxial polydactyly, Micrognathia, J... OMIM:618460
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos... ORPHA:79404
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol... ORPHA:79665
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
Metachromatic Leukodystrophy
Abnormal stomach morphology, Decreased nerve conduction velocity, Neoplasm of the gallbladder, Ab... ORPHA:512
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Pes cavus, Proportionate shortening of all digits, Anteverted nares, Tapered f... ORPHA:280633
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Anteverted nares, Depressed nasal bridge, Short stature, Broad nasal tip, Cubit... OMIM:617157
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Cleft palate, High palat... OMIM:235255
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Postaxial hand polydactyly, 11 pairs of ribs, 2-3 toe syndactyly OMIM:264480
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Abnormality of the humeroulnar joint, Short stature ORPHA:2234
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t... ORPHA:581
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Rhabdomyosarcoma, Cleft palate, Colon cancer, Muscular dystrophy, Stomach c... ORPHA:1052
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal... OMIM:115470
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... OMIM:612852
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Broad hallux phalanx, Sandal gap, Single transverse palmar crease, Craniosynostosis, ... ORPHA:363611
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Elevated circulating alkaline phosphatase concentration ORPHA:529665
Hydrolethalus
Micromelia, Micrognathia, Postaxial hand polydactyly, Abnormality of the sense of smell, Retrogna... ORPHA:2189
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Fat malab... ORPHA:30391
Tibial Hemimelia
Absent tibia OMIM:275220
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Paget Disease Of Bone 3
Elevated circulating alkaline phosphatase concentration OMIM:167250
Familial Adenomatous Polyposis
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Goiter, Pituit... ORPHA:733
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in childhood, Death in adolescence, Osteoporosis, Rickets OMIM:560000
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Respiratory failure, Osteopetrosis ORPHA:3240
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Intrauterine growth retardation, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Tetrasomy 18P
Large hands, Short nose ORPHA:3307
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Asthma, Recurrent pneumonia, Concave nasal ridge, Short nos... OMIM:170100
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Immunodeficiency 31C
Skeletal muscle atrophy, Villous atrophy, Hepatomegaly, Splenomegaly, Gastrointestinal eosinophil... OMIM:614162
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Micrognath... ORPHA:280
Proximal 16P11.2 Microdeletion Syndrome
Hand polydactyly, Rib fusion, Craniosynostosis, Micrognathia ORPHA:261197
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Toe syndactyly, Short stature, Bulbous nose, Hypoplasia of the radius, Wide nasal bridge, Clinoda... ORPHA:140952
Vacterl With Hydrocephalus
Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Intrauterine grow... ORPHA:3412
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Deeah Syndrome
Prominent nasal tip, Death in infancy, Neonatal respiratory distress, Short stature, Delayed skel... OMIM:619004
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... ORPHA:85165
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Delayed skeletal maturation, Tachypnea, Bell-shaped thorax, Growth delay, Pulmonary... OMIM:614857
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Thin ribs, Neonatal death, Retrognathia, Joint hypermobility OMIM:300219
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Overlapping toe, Depressed nasal bridge, Short stature, Recurrent pneumoni... ORPHA:99843
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Decreased sensory nerve conduction veloc... ORPHA:456312
Mowat-Wilson Syndrome
Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Cryptorchidism, Generalized muscle... OMIM:235730
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Elevated circulating aspartate aminotransferase concentration, Cleft l... OMIM:280000
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam... ORPHA:2363
Witteveen-Kolk Syndrome
Proximal placement of thumb, Short palm, Clinodactyly of the 5th finger, Hyperplasia of the maxil... OMIM:613406
Xq12-Q13.3 Duplication Syndrome
Everted lower lip vermilion, Low alkaline phosphatase ORPHA:314389
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Elevated circulating alkaline phosphatase concentration OMIM:615422
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Bone pain, Rickets OMIM:613388
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Central apnea, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndact... ORPHA:522077
Cerebrocostomandibular Syndrome
Death in infancy, Neonatal respiratory distress, Short stature, Tracheomalacia, Micrognathia, Pos... ORPHA:1393
Degcags Syndrome
Osteopenia, Micrognathia, Prominent nose, Intrauterine growth retardation, Syndactyly, Anteverted... OMIM:619488
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Increased circulating lactate dehydrogenase concentration, Elevated circulating al... OMIM:259700
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Patent ductus arteriosus, Downturned corners of mouth, Macroglossia, Wide mouth,... OMIM:618268
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Donnai-Barrow Syndrome
Wide anterior fontanel, Short nose, Depressed nasal bridge ORPHA:2143
Hypophosphatemic Rickets And Hyperparathyroidism
Short stature, Bone pain, Rickets, Hypophosphatemic rickets, Rachitic rosary OMIM:612089
Osteogenesis Imperfecta, Type Xv
Short stature, Recurrent fractures, Thin ribs, Bowing of limbs due to multiple fractures, Joint h... OMIM:615220
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Mild short stature, Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Multiple joint contractures, Anterior pituitary hypoplasia, Pyloric stenosis, ... ORPHA:464306
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Short stature OMIM:611590
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn... OMIM:601803
Plasminogen Deficiency, Type I
Duodenal ulcer OMIM:217090
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Villous atrophy, Portal hypertension, Jaundice, Elevated circulati... ORPHA:567983
Charge Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Talipes, Choanal atresia, Short stature, Postn... ORPHA:138
Shwachman-Diamond Syndrome 2
Death in infancy, Short stature, Anterior rib cupping, Metaphyseal widening, Death in childhood, ... OMIM:617941
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating alkaline phosphatase concentration ORPHA:52430
Osteogenesis Imperfecta, Type Xi
Elevated circulating alkaline phosphatase concentration, Dentinogenesis imperfecta OMIM:610968
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anteverted nares, Depressed nasal bridge, Micrognathia, Deep plantar creases, Abnormal ilium morp... OMIM:614080
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Pes cavus, Short stature ORPHA:289266
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, Short nose, Broad columella OMIM:617865
Vacterl/Vater Association
Finger syndactyly, Preaxial hand polydactyly, Abnormal rib morphology, Aplasia/Hypoplasia of the ... ORPHA:887
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Ankle flexion contracture, Cryptorchidism, Posterior pituitary hypoplasia, Gas... ORPHA:464311
Fg Syndrome 5
Depressed nasal bridge, Short nose, Anteverted nares, Metopic synostosis OMIM:300581
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Rickets OMIM:602722
Radial-Renal Syndrome
Absent radius, Short stature, Absent thumb OMIM:179280
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, High, narrow palate, Patent du... ORPHA:369837
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Severe short stature, Joint stiffness, Depressed nasal ridge, H... OMIM:230500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, High... ORPHA:1655
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Abnormality of the temporomandibular joint, Flexion contracture, Respiratory ins... ORPHA:258
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... ORPHA:2929
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati... ORPHA:1675
Gallbladder Disease 1
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration OMIM:600803
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar c... ORPHA:83617
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Tapered finger, Bulbous nose, Asthma, Rib fusion, Clinodactyly of the 5th finger, Re... ORPHA:544488
Cystinosis, Nephropathic
Short stature, Metaphyseal widening, Delayed skeletal maturation, Rickets, Genu valgum, Growth de... OMIM:219800
Mucopolysaccharidosis Type 2, Severe Form
Wide nose, Thickened ribs, Short stature, Camptodactyly of finger, Flexion contracture, Limitatio... ORPHA:217085
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Micrognathia, Jaundice, Elevated c... OMIM:614866
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Multiple joint contractures, Optic nerve hypoplasia, Ankle flexion contracture... ORPHA:468631
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Intrauterine growth retardation OMIM:610678
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Pedal edema, Respiratory failure, Paroxysmal dyspnea, Pulmo... ORPHA:563
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Bohring-Opitz Syndrome
Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Flexion contracture, Narrow... OMIM:605039
Tarsal Coalition
Tarsal synostosis OMIM:186850
Mucopolysaccharidosis Type 2, Attenuated Form
Wide nose, Thickened ribs, Short stature, Camptodactyly of finger, Flexion contracture, Limitatio... ORPHA:217093
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Short stature, Prominent nasal bridge, Tapered finger, Abnormal toe morphology, Pe... ORPHA:268261
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Chromosome 3Q29 Duplication Syndrome
Pes planus, Bulbous nose, Wide nasal bridge, Multiple palmar creases, Short nose OMIM:611936
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Retrognathia, Respiratory insufficiency, Joint hypermobility, Thin ribs ORPHA:456328
Boutonneuse Fever
Abnormality of the plantar skin of foot, Abnormal skin morphology of the palm, Respiratory failure ORPHA:83313
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Anteverted nares, Single transverse palmar crease, Short stature, Tapered finger, Cari... OMIM:619522
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short stature, Prominent nasal bridge, Intermittent hyperventilation, Broad nasal tip, Micrognath... OMIM:300749
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cryptorchidism, Aganglionic megacolon, Camptodactyly of finger ORPHA:2273
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Short stature, Death in childhood OMIM:619847
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint laxity, Microretrognathia, Joint dislocation, Arachnodactyly, Pectus excavatum, Generalized... OMIM:601776
Cystinosis
Rickets, Short stature, Delayed puberty ORPHA:213
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Dend Syndrome
Clinodactyly of the 4th finger, Prominent metopic ridge, Anteverted nares, Short nose ORPHA:79134
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Miscarriage, Respiratory insufficiency due to muscle wea... ORPHA:169189
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated alkaline phosphatase of bone origin OMIM:167320
Infantile Krabbe Disease
Ankle clonus, Respiratory failure, Shoulder girdle muscle weakness, Respiratory distress ORPHA:206436
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Overlapping toe, Broad hallux, Sandal gap, Micrognathia, Anteverted nares, D... OMIM:618332
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Riddle Syndrome
Short stature, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Arthritis, Restrictive ventilat... ORPHA:420741
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Elevated circulating alkalin... OMIM:618548
Familial Adenomatous Polyposis 1
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... OMIM:175100
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... OMIM:613095
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ... ORPHA:90362
Osteopetrosis, Autosomal Recessive 9
Elevated circulating alkaline phosphatase concentration OMIM:620366
Bloom Syndrome
Pneumonia, Micrognathia, Chronic pulmonary obstruction, Growth delay, Severe postnatal growth ret... ORPHA:125
Coccidioidomycosis
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Abnormal long bone morphology,... ORPHA:228123
Limb Body Wall Complex
Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, D... ORPHA:2369
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose OMIM:137550
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Steatorrhea, Hepatic fibrosis, Sk... OMIM:616263
Fanconi-Bickel Syndrome
Elevated circulating aspartate aminotransferase concentration, Malabsorption, Intrahepatic choles... OMIM:227810
Cebalid Syndrome
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge OMIM:618774
Cerebrofaciothoracic Dysplasia
Wide nose, Short stature, Rib fusion, Narrow chest, Bifid ribs, Sprengel anomaly, Short nose ORPHA:1394
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... OMIM:118100
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Carious teeth, Fle... ORPHA:2908
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Submucous cleft hard palate, Cleft palate, Gastroe... OMIM:301043
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Camptodactyly, Intest... OMIM:235510
Spondylocostal Dysostosis 2, Autosomal Recessive
Restrictive ventilatory defect, Rib fusion, Disproportionate short-trunk short stature OMIM:608681
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Paget Disease Of Bone 2, Early-Onset
Elevated circulating alkaline phosphatase concentration, Premature loss of teeth OMIM:602080
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Respiratory failure, Limb joint contracture OMIM:620327
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections, Joint stiffness OMIM:252920
Diamond-Blackfan Anemia 8
Growth delay, Short nose, Short stature, Wide nasal bridge OMIM:612563
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Craniosynostosis, Choanal stenosis, Short nose, Maxillozygoma... ORPHA:1790
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Pectus excavatum, Short toe, Wide nasal bridge, Clinod... ORPHA:1519
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Optic disc coloboma, Pyloric stenosi... OMIM:309800
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Short stature, Severe postnatal growth retardation, Con... OMIM:613038
Celiac Disease, Susceptibility To, 1
Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Delayed puberty, Enamel hypop... OMIM:212750
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Osteopenia, Short stature, Recurrent fractures, Metaphyseal widening, Osteop... OMIM:259770
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Mild short stature, Flexion contracture, Short stature, Thin ribs OMIM:614833
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration ORPHA:263455
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Short stature ORPHA:2578
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Short stature OMIM:134600
White-Kernohan Syndrome
Joint laxity, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hip dysplasia,... OMIM:619426
Abetalipoproteinemia
Osteopenia, Respiratory failure, Talipes equinovarus, Distal lower limb muscle weakness, Pes cavus ORPHA:14
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Hepatitis, Rectal absce... ORPHA:436252
Caroli Disease
Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminotransf... ORPHA:53035
Peters Plus Syndrome
Toe syndactyly, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Depressed nasal bridge, S... ORPHA:709
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, D... ORPHA:1791
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Short stature, Sagittal craniosynostosis, Pectus exca... OMIM:609942
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Bulbous nose, Growth dela... ORPHA:261144
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections, Joint stiffness OMIM:252900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Growth delay ORPHA:77298
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Joint laxity, Pes planus, Narrow nasal bridge, Slender build, Prominent nasal brid... ORPHA:466791
Leigh Syndrome
Multiple joint contractures, Growth delay, Respiratory failure, Intrauterine growth retardation, ... ORPHA:506
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerve compress... ORPHA:652
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs, Pedal edema OMIM:152800
Diets-Jongmans Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Duodenal atresia OMIM:618846
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Fat malabsorption, Optic atrophy, Limb-girdle muscular dystrophy ORPHA:96180
Lethal Congenital Contracture Syndrome 5
Death in infancy, Flexion contracture, Respiratory insufficiency, Thin ribs, Congenital contracture OMIM:615368
Trichothiodystrophy 1, Photosensitive
Death in infancy, Short stature, Asthma, Flexion contracture, Short nose, Retrognathia OMIM:601675
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating alkaline phosphatase concentration, Intestinal obstruction, Acute colitis, E... ORPHA:67
Hypoplasminogenemia
Duodenal ulcer, Abnormality of the ovary ORPHA:722
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Iniencephaly
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia, Anal atresia, Duodenal atresia ORPHA:63259
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Intestinal malrotation, Congenital diaphragmatic hernia, Biliary atresia, Apl... OMIM:600001
Williams Syndrome
Osteopenia, Micrognathia, Clinodactyly of the 5th finger, Spina bifida occulta, Joint laxity, Inc... ORPHA:904
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus, Hepatitis OMIM:304790
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... OMIM:605814
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... OMIM:619503
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Aganglionic megacolon, Cleft palate OMIM:308205
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose ORPHA:284169
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Limb joint contracture, Coxa valga, Achilles tendon contracture, Dela... ORPHA:404454
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Short stature, Underdeveloped nasal alae, Delayed sk... ORPHA:2315
Pterygium Colli, Isolated
Short nose OMIM:177990
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Short stature OMIM:268315
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Asplenia, Abdominal situs inversus, Intrauterine growth retardation, Abdo... OMIM:270100
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Respiratory distress, Joint stiffness, Flexion contracture, Pectus carinatum... ORPHA:505248
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon OMIM:619362
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Macronodular cirrhosis, Steato... OMIM:557000
S-Adenosylhomocysteine Hydrolase Deficiency
Growth delay, Pes planus, Respiratory failure ORPHA:88618
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Flexion contracture, Genu valgum, Intrauterine growth retardation, Short nose, Con... OMIM:619321
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Short stature, Asthma, Recurrent pneumonia, ... ORPHA:209905
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration OMIM:616026
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Sotos Syndrome
Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Cryptorchidism, Bilateral camp... ORPHA:821
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Flexion contra... ORPHA:365
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections, Joint stiffness OMIM:252930
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogeusia, Low alkaline phosphatase OMIM:201100
Cadds
Intrauterine growth retardation, Short nose, Micrognathia ORPHA:369942
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... ORPHA:261584
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice ORPHA:69665
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... OMIM:620296
Williams-Beuren Syndrome
Hallux valgus, Osteopenia, Joint laxity, Anteverted nares, Down-sloping shoulders, Depressed nasa... OMIM:194050
Generalized Arterial Calcification Of Infancy
Respiratory distress, Abnormality of the knee, Calcification of the auricular cartilage, Osteomal... ORPHA:51608
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Gorham-Stout Disease
Abnormality of the temporomandibular joint, Mandibular pain, Elevated alkaline phosphatase of bon... ORPHA:73
Primary Biliary Cholangitis
Portal hypertension, Celiac disease, Jaundice, Hepatitis, Elevated circulating alkaline phosphata... ORPHA:186
Wild Type Attr Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:330001
Alkaptonuria
Joint dislocation, Joint stiffness, Cartilage destruction, Abnormality of the nose, Osteoarthriti... ORPHA:56
Cystic Echinococcosis
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... ORPHA:400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Wide nose, Severe short stature, Abnormal dental enamel morphology, Microgn... ORPHA:2556
Mowat-Wilson Syndrome
Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Gastrointestinal dysmotility, Flexion... ORPHA:2152
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
3-Methylglutaconic Aciduria Type 7
Growth delay, Respiratory failure, Pneumothorax ORPHA:445038
Schisis Association
Micromelia ORPHA:63862
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Asplenia, Flexion contracture, Crypto... ORPHA:261537
Al Amyloidosis
Elevated circulating alkaline phosphatase concentration, Macroglossia, Abnormal salivary gland mo... ORPHA:85443
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Short nose, Micrognathia OMIM:266810
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal... OMIM:122880
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck ORPHA:2912
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Microcolon, Ileal atresia OMIM:619351
Macrocephaly/Autism Syndrome
Joint laxity, Overgrowth, Short nose, Depressed nasal bridge OMIM:605309
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Inflammation of the large intestine, Hepatocellu... OMIM:232220
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Ulcerative colitis, Elevated circulating alkaline phosphatase conc... ORPHA:562639
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Mandibular prognathia, Prominent nasal tip, Sandal gap, Broad nasal tip, Long finge... OMIM:620330
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Short stature ORPHA:280210
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Posteriorly placed anus, Asplenia, Biliary atresia, Abdominal situs inversus, Polys... OMIM:306955
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Cryptorchidism, Protein-losing enteropathy OMIM:618183
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Asplenia, Flexion contracture, Optic ... ORPHA:261552
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Prominent nasal bridge, Recurrent pneumonia, Wide nasal bridge, Short nose OMIM:619179
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Nijmegen Breakage Syndrome
Depressed nasal bridge, Prominent nasal bridge, Short stature, Prominent nose, Recurrent pneumoni... ORPHA:647
Craniosynostosis And Dental Anomalies
Hallux valgus, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndactyly, Coronal craniosynosto... OMIM:614188
Distal Renal Tubular Acidosis
Short stature, Osteomalacia, Respiratory insufficiency due to muscle weakness, Bone pain, Rickets... ORPHA:18
Okamoto Syndrome
Prominent metopic ridge, Anteverted nares, Talipes, Depressed nasal bridge, Underdeveloped nasal ... ORPHA:2729
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Short stature, Micrognathia, Wide nasal bridge, Hypoxemia, Pulmonary arterial h... ORPHA:2282
Zygomycosis
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Peritonitis, Enterocolitis, Hepatitis, Hemat... ORPHA:73263
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Micrognathia, Joint stiffness, Short nose OMIM:618820
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood, In... OMIM:610505
Caroli Syndrome
Elevated hepatic transaminase, Portal hypertension, Intrahepatic cholestasis, Jaundice, Esophagea... ORPHA:480520
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Mic... OMIM:619525
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level ORPHA:247691
Adenylosuccinase Deficiency
Growth delay, Prominent metopic ridge, Anteverted nares, Short nose OMIM:103050
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Jaundice, Esophageal varix, Elevat... ORPHA:275761
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Splenomegaly, Inflammation of the large intestine, Colitis OMIM:614700
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Listeriosis
Respiratory distress, Stiff neck, Miscarriage, Osteomyelitis, Pneumonia, Respiratory failure, Sep... ORPHA:533
Osteopetrosis With Renal Tubular Acidosis
Short stature, Recurrent fractures, Micrognathia, Pectus excavatum, Persistence of primary teeth,... ORPHA:2785
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Hypoplasia of teeth, Growth delay, Short nose, Retrognathia OMIM:234050
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Abnormal pancreas mo... ORPHA:449432
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Pulmonary arteri... ORPHA:2396
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer OMIM:605822
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Respiratory insufficiency ORPHA:93941
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Short stature, Gout, Death in childhood, Short nose, Convex nasal ridge OMIM:300661
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Patellar aplasia, Inferior pubic ramus hypoplasia, K... OMIM:606170
Wilson Disease
Osteomalacia, Osteoarthritis, Osteoporosis, Pedal edema, Hyposmia, Chondrocalcinosis, Joint hyper... OMIM:277900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Osteomyelitis, Anteverted nares, Single transverse palmar crease, Bulbous nose, Wid... OMIM:619475
Senior-Boichis Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Esophagea... ORPHA:84081
Aceruloplasminemia
Torticollis, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron con... ORPHA:48818
Chime Syndrome
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... ORPHA:3474
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Abnormality of the liver, Colitis, Hypopl... ORPHA:84064
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Pectus excavatum, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:618278
Mirizzi Syndrome
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration ORPHA:521219
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Splenomegaly, Hepatitis, Colitis, Anoperineal fistula... OMIM:619381
Townes-Brocks Syndrome
Broad hallux phalanx, Pes planus, Toe syndactyly, Short stature, Lower limb asymmetry, Preaxial h... ORPHA:857
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, ... OMIM:222470
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... OMIM:617156
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Talipes equinovarus OMIM:258040
1P21.3 Microdeletion Syndrome
Broad nasal tip, Short nose, Joint hypermobility, Micrognathia ORPHA:293948
Branchiooculofacial Syndrome
Depressed nasal bridge, Single transverse palmar crease, Proximal placement of thumb, Micrognathi... OMIM:113620
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Growth delay, Hypopnea, Respiratory failure, Neonatal death, Respiratory... OMIM:617248
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ... ORPHA:93111
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Respiratory insufficiency, Growth delay, Respiratory failure OMIM:252010
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Hepatomegaly, Hypopituitarism, Decreased response to g... ORPHA:811
Nocardiosis
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... ORPHA:31204
Reynolds Syndrome
Elevated hepatic transaminase, Jaundice, Lip telangiectasia, Elevated circulating alkaline phosph... OMIM:613471
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Anteverted nares, Metopic synostosis OMIM:613735
Pseudo-Torch Syndrome 2
Pleural effusion, Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs OMIM:617397
Hypocalciuric Hypercalcemia, Familial, Type Iii
Bone pain, Osteomalacia, Chondrocalcinosis OMIM:600740
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Rhabdomyosarcoma, Cryptorchidism,... ORPHA:116
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory failure, In... ORPHA:555874
Meier-Gorlin Syndrome 7
Anal stenosis, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed anus, High pala... OMIM:617063
Boudin-Mortier Syndrome
Elevated alkaline phosphatase of bone origin OMIM:619543
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Cryptorchidism, Tracheoesophageal fistula, Gastroesophageal... OMIM:107480
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Jaundice, Perianal ... OMIM:619573
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Pancreatic fibrosis, Decreased response to growth hormone stimu... ORPHA:699
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... ORPHA:247598
Liver Disease, Severe Congenital
Chronic gastritis, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaundice, Portal ... OMIM:619991
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... ORPHA:94093
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Cleft pa... OMIM:135900
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Cryptorchidism... ORPHA:564
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Intermittent jaun... ORPHA:100085
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Kleefstra Syndrome Due To 9Q34 Microdeletion
Growth delay, Short nose, Anteverted nares ORPHA:96147
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion ORPHA:340
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing... OMIM:211380
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Intrauterine growth retardation, E... OMIM:617052
Fraser Syndrome 1
Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Coat hanger sign of ribs, Overgrowth, Thoracic hypoplasia ORPHA:254534
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Renal Cysts And Diabetes Syndrome
Abnormality of alkaline phosphatase level, Elevated hepatic transaminase OMIM:137920
Pontine Tegmental Cap Dysplasia
Ankle clonus, Aspiration, Rib fusion OMIM:614688
Holoprosencephaly 7
Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ... OMIM:610828
Molybdenum Cofactor Deficiency, Complementation Group B
Neonatal death, Short nose, Growth delay OMIM:252160
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase ORPHA:785
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Esophageal carcinoma, Enterocolitis, Hepatitis, Hepatosplenomegaly, Abnormal int... ORPHA:391487
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Intrauterine growth retardation, Small bowel diverticula ORPHA:90349
Infantile Nephropathic Cystinosis
Growth delay, Rickets ORPHA:411629
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... OMIM:124000
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxill... OMIM:305100
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Interm... ORPHA:100086
Estrogen Resistance
Elevated alkaline phosphatase of bone origin OMIM:615363
Primary Sclerosing Cholangitis
Acute hepatic failure, Elevated hepatic transaminase, Portal hypertension, Celiac disease, Jaundi... ORPHA:171
Primary Fanconi Renotubular Syndrome
Osteomalacia, Bone pain, Increased susceptibility to fractures, Growth delay, Hypophosphatemic ri... ORPHA:3337
Molybdenum Cofactor Deficiency, Complementation Group A
Growth delay, Short nose OMIM:252150
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Patent ductus... OMIM:619534
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Chondrocalcinosis ORPHA:405
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs OMIM:615287
Niemann-Pick Disease Type C
Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Small bowel diverticula ORPHA:90348
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Short stature, Death in infancy ORPHA:991
Peroxisome Biogenesis Disorder 4B
Short nose, Single transverse palmar crease OMIM:614863
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ... OMIM:229400
Penile Agenesis
Depressed nasal bridge, Bilateral talipes equinovarus, Short nose ORPHA:49
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Narrow nasal ridge, Pulmonary arterial hypertension, Pleural effusion, ... OMIM:606721
Juvenile Nephropathic Cystinosis
Elevated alkaline phosphatase of bone origin ORPHA:411634

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 Ihh

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 Ihh.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ihhtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ihhtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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