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Gene: Prrx1 MGI:97712

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

paired related homeobox 1

Synonyms:

A230024N07Rik, MHox1, mHox, K-2, Pmx1, Prx1

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 Prrx1 mutations

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

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

Human diseases associated with Prrx1 (2 diseases)
Human diseases predicted to be associated with Prrx1 (1700 diseases)

The table below shows human diseases associated to Prrx1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Agnathia-Otocephaly Complex		Respiratory distress, Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Holopr...	OMIM:202650
Agnathia-Holoprosencephaly-Situs Inversus Syndrome		Low-set, posteriorly rotated ears, Respiratory distress, Aplasia/Hypoplasia of the cerebellum, Ho...	ORPHA:990

The table below shows human diseases predicted to be associated to Prrx1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Amelia, Posterior, With Pelvic And Pulmonary Hypoplasia Syndrome	Amelia	OMIM:601360
Amelia And Terminal Transverse Hemimelia	Amelia	OMIM:104400
Hhhh Syndrome	Hemiatrophy	OMIM:306960
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Hemivertebrae, Coxa vara, Gastroesophageal reflux, Clinodactyly ...	OMIM:614701
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert...	OMIM:108720
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Kniest Dysplasia	Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti...	OMIM:156550
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Absent forearm, Posteriorly rotated ears, Overlapping toe, Single transverse pa...	OMIM:201170
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Omodysplasia 2	Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Gastroesophageal reflux, Clinoda...	OMIM:164745
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Achondroplasia	Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora...	OMIM:100800
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Seckel Syndrome 1	Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Single transverse ...	OMIM:210600
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Rhizomelia, Micrognat...	OMIM:108721
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, ...	OMIM:151210
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior...	OMIM:114290
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Short neck, Feeding difficulties in infancy, Generaliz...	ORPHA:251028
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion c...	OMIM:601559
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, High palate, Narrow greater sciatic notch, Conductive hearing impairment, Joint con...	OMIM:602471
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Meningeal calcification, Clinodactyly ...	OMIM:154780
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,...	OMIM:268310
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Abnormal hip joint morphology, Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Tali...	ORPHA:1856
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Venous insufficiency, Abnormal form of the vertebral bod...	ORPHA:1106
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Wide nasal br...	OMIM:277440
Osteopathia Striata With Cranial Sclerosis	Apnea, Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteo...	OMIM:300373
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ...	OMIM:618150
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Attached earlobe, Abnormal form of the vertebral bodies, Downturned corner...	ORPHA:1327
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Limited elbow movement, Abnormal metatarsal morphology, Abnorma...	OMIM:127300
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Abnormal form of ...	ORPHA:950
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Campomelic Dysplasia	Micrognathia, Short neck, Femoral bowing, Tibial bowing, Hypoplastic inferior ilia, Poorly ossifi...	ORPHA:140
Schinzel-Giedion Syndrome	Respiratory distress, Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing, Anteri...	ORPHA:798
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Long nose, Congenital stapes ankylosis, Proximal/...	OMIM:184460
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Protruding ear, Tibial bowing,...	ORPHA:93315
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Dow...	OMIM:619297
Mullegama-Klein-Martinez Syndrome	Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Cleft lip, Wide nasal ...	OMIM:301022
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate...	OMIM:268305
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ...	OMIM:277170
Glass Syndrome	Apnea, Anterior tibial bowing, Dental crowding, Micrognathia, Long nose, Conical tooth, Oligodont...	OMIM:612313
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig...	ORPHA:3258
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Abnormal cerebral vascular morphology, Increa...	ORPHA:2616
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M...	OMIM:227270
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Kyphomelic Dysplasia	Micromelia, Micrognathia, Femoral bowing, Tibial bowing, Pterygium, Short metacarpal, Radial bowi...	OMIM:211350
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
Acro-Renal-Mandibular Syndrome	Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, High palate, Short philtrum, Low-set, p...	ORPHA:958
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Shox-Related Short Stature	Short neck, Micrognathia, Madelung deformity, Genu valgum, Short foot, Tibial bowing, High palate...	ORPHA:314795
Van Bogaert-Hozay Syndrome	Abnormal pinna morphology, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth m...	OMIM:277150
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Abnormal form of th...	ORPHA:1788
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,...	ORPHA:96334
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S...	ORPHA:79106
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Respiratory distress, Micrognathia, Microcephaly, Feeding difficulties, Wide m...	OMIM:300934
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Microtia, Everted lower lip vermi...	ORPHA:357175
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Micr...	OMIM:615162
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit...	OMIM:265120
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A...	ORPHA:70589
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Phocomelia, Schinzel Type	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Protruding ...	ORPHA:2879
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr...	OMIM:143095
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Wide n...	ORPHA:2256
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate...	ORPHA:3320
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Femoral bowing, Tibial bowing, Gastroesophageal reflux, Neonatal death, Lum...	OMIM:616482
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe...	OMIM:223800
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Posteriorly rotated ears, Micrognathia, Short neck, Microcephaly, Dyspnea, ...	ORPHA:1832
Symphalangism, Proximal, 1A	Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:185800
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Accessory oral...	ORPHA:79113
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Short neck, Preaxial polydactyly, Narrow greater sciatic notch, Neonatal death, Sho...	OMIM:617925
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul...	ORPHA:141152
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow...	OMIM:264700
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Short neck, Missing ribs, Absent thumb, Humeroradial synostosis, ...	OMIM:251230
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ...	OMIM:164900
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,...	OMIM:112350
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Abnormally ossified vertebrae, Radial bowing, Intestinal malrotation, C...	ORPHA:3035
Osteogenesis Imperfecta, Type X	Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Hypoplasia of the max...	OMIM:231070
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me...	OMIM:602111
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi...	ORPHA:175
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, ...	ORPHA:949
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Dental crowding, Micrognathia, Glossoptosis, Mandibular condyle apla...	OMIM:614669
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal reflux, As...	ORPHA:444077
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H...	OMIM:612651
Osebold-Remondini Syndrome	Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,...	OMIM:112910
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress	ORPHA:2140
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
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
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Patent ductus arteriosus, Deep ...	OMIM:615398
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Nasogastric tube feeding in infan...	ORPHA:93316
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Otoonychoperoneal Syndrome	Hip contracture, Posteriorly rotated ears, Ankle flexion contracture, Aplasia/Hypoplasia of the f...	OMIM:259780
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Short 4th metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Short long bone,...	OMIM:118651
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th...	ORPHA:1988
Perching Syndrome	Respiratory distress, Cyanosis, Dysphagia, Feeding difficulties, High palate, Scoliosis, Camptoda...	OMIM:617055
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Lung adenocarcinoma, Reduced forced vital capacity, Atelectasis...	ORPHA:2302
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, Accessory oral frenulum...	OMIM:258860
Congenital Arthrogryposis With Anterior Horn Cell Disease	Single transverse palmar crease, Micrognathia, Short neck, High palate, Neonatal death, Paucity o...	OMIM:611890
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing r...	OMIM:617866
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Spinal cord compression, Osteoart...	OMIM:307800
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious...	OMIM:617102
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High...	OMIM:614188
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Death in infancy, Cerebellar vermis hypoplasia, Th...	OMIM:619135
W Syndrome	Hypoplasia of the ulna, Pes planus, Broad uvula, Radial bowing, Metatarsus adductus, Elbow disloc...	ORPHA:2804
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo...	ORPHA:3232
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal...	OMIM:274000
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Conical tooth, Pylo...	OMIM:263750
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abdominal distention, Abnormal carpal...	ORPHA:85166
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Protruding ear, Ectodermal dysplasia, High ...	OMIM:218330
Alagille Syndrome	Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Telangiectasia of the skin, Microgn...	ORPHA:52
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna, Split hand, Split foot, Low-set...	OMIM:200980
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog...	ORPHA:2878
Moebius Syndrome	Respiratory distress, Micrognathia, Short neck, Feeding difficulties in infancy, Hypoplasia of th...	OMIM:157900
Fountain Syndrome	Abnormal form of the vertebral bodies, Spina bifida occulta, Spina bifida, Abnormal foot morpholo...	ORPHA:3219
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Slc35A2-Cdg	Osteopenia, Cerebral white matter atrophy, Cortical dysplasia, Abnormal long bone morphology, Gas...	ORPHA:356961
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small...	ORPHA:93356
Odontochondrodysplasia 1	Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger,...	OMIM:184260
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Nasogastric tube feeding in...	ORPHA:453510
Alg3-Cdg	Osteopenia, Cerebral white matter atrophy, Abnormal pinna morphology, Microcephaly, Hypoplasia of...	ORPHA:79321
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib...	OMIM:166200
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia...	ORPHA:2347
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul...	ORPHA:289157
Distal Duplication 5Q	Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Carious teeth, Absent thumb, Microcephaly...	ORPHA:96097
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia...	ORPHA:915
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, High palate, Lo...	OMIM:276820
Acrocephalopolydactyly	Genu recurvatum, Short neck, Short long bone, Microtia, Protuberant abdomen, Limb undergrowth, Sh...	ORPHA:221054
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Micr...	ORPHA:166272
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Microcephaly, Carious...	ORPHA:1110
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Central retinal vessel vascular tortuosity, Tachypnea, Protruding ear, Finge...	ORPHA:2751
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Osteopathia Striata-Cranial Sclerosis Syndrome	Cerebral calcification, Micrognathia, High, narrow palate, Large iliac wing, Conductive hearing i...	ORPHA:2780
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Cyanosis, Overriding aorta, Single transverse palmar crease, Micrognath...	ORPHA:3304
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Abnormal pinna morpho...	OMIM:607143
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno...	ORPHA:2345
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Holoprosencepha...	ORPHA:1908
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Hypoplastic cer...	ORPHA:56304
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Fibular hypoplasia, Aplasia/Hypo...	OMIM:612447
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
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Short neck, Microcephaly, Abdominal distention, Cleft upp...	OMIM:613885
Aase-Smith Syndrome	Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,...	ORPHA:916
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn...	ORPHA:1352
Phaver Syndrome	Abnormal form of the vertebral bodies, Triphalangeal thumb, Pulmonary artery atresia, Conductive ...	ORPHA:2876
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Short neck, Kyphosi...	OMIM:618393
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P...	ORPHA:1302
Trisomy 20P	Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Pr...	ORPHA:261318
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bilateral single transverse palmar creases, Proximal placement of thumb, Spina ...	ORPHA:1120
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Rhyns Syndrome	Osteopenia, Radial bowing, Sensorineural hearing impairment, Osteoporosis, Short long bone, Short...	OMIM:602152
Tetrasomy 5P	Respiratory distress, Short neck, Micrognathia, High palate, Clinodactyly of the 5th finger, Long...	ORPHA:3309
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of corpus callosum, Hypoplas...	OMIM:613091
Diastrophic Dysplasia	Cervical kyphosis, Hypertrophic auricular cartilage, Hypoplastic cervical vertebrae, Lumbar hyper...	OMIM:222600
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t...	OMIM:620045
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi...	OMIM:600383
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Micromelia, Micrognathia, Short neck, Abnormal encho...	ORPHA:93299
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:619003
Frontonasal Dysplasia 1	Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hyp...	OMIM:136760
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Gastroesophageal reflux, Cervical cord c...	ORPHA:79345
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Micrognathia, Mi...	OMIM:616038
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Orofaciodigital Syndrome Type 10	Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral ...	OMIM:166220
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot...	ORPHA:2257
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood	OMIM:614096
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Grant Syndrome	Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia	OMIM:138930
Rubinstein-Taybi Syndrome 1	Respiratory distress, Plantar crease between first and second toes, Dental crowding, Single trans...	OMIM:180849
Autosomal Recessive Hypophosphatemic Rickets	Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge...	ORPHA:289176
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Micro...	ORPHA:2437
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros...	OMIM:616331
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:241530
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplas...	OMIM:614900
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo...	ORPHA:2631
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Neu-Laxova Syndrome	Osteopenia, Cerebral calcification, Micromelia, Micrognathia, Flexion contracture, Pterygium, Pac...	ORPHA:2671
17Q24.2 Microdeletion Syndrome	Otosclerosis, Thin upper lip vermilion, Micrognathia, Short neck, Aggressive behavior, Patent duc...	ORPHA:529962
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Sensorineural hearing impair...	OMIM:605432
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Abnormal pinna morphology, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowi...	OMIM:207410
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ...	OMIM:166210
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in...	OMIM:256050
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Cerebral calcification, Rocker bottom foot, 4-layered li...	ORPHA:89844
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Proximal placement of thumb, Short neck, High, narrow palate, Knee flex...	OMIM:613776
Oculofaciocardiodental Syndrome	Feeding difficulties in infancy, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short ...	ORPHA:2712
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio...	OMIM:215140
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Pallister-Hall Syndrome	Hemivertebrae, Holoprosencephaly, Bifid uvula, Paroxysmal bursts of laughter, Microretrognathia, ...	ORPHA:672
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in inf...	OMIM:182212
Heart And Brain Malformation Syndrome	Attached earlobe, Prominent metopic ridge, Cerebellar vermis hypoplasia, Posteriorly rotated ears...	OMIM:616920
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Cerebral calcification, Hydranencephaly, Spina b...	ORPHA:1393
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Microcephaly, Aggressive beha...	ORPHA:85279
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia, Recurrent aspi...	OMIM:300484
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Th...	ORPHA:508498
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Multiple joint disl...	OMIM:618395
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t...	ORPHA:245
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res...	ORPHA:50251
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy...	OMIM:250400
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	ORPHA:776
Omodysplasia 1	Micrognathia, Short neck, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizome...	OMIM:258315
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal...	ORPHA:84
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H...	OMIM:234100
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Proximal placement of thumb, Micrognathia, Short neck, Anteriorly placed an...	OMIM:217980
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Feeding difficult...	OMIM:224690
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hydrocephalus, Cupped ear, Patent ductus arter...	OMIM:614846
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Micrognathia, Microcephaly, Abnormal sacrum morphology, Hydroc...	ORPHA:1926
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Micrognathia, Joint stiffness, Microcephaly, Tetralogy of Fallot, Cleft palate, Protruding ear, R...	ORPHA:1166
Mosaic Trisomy 9	Micromelia, Micrognathia, Short neck, Hemivertebrae, Finger clinodactyly, High palate, Biparietal...	ORPHA:99776
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Hyperactivity, Iliac crest serration...	ORPHA:239
Diaphanospondylodysostosis	Respiratory distress, Absent in utero ossification of vertebral bodies, Micrognathia, Short neck,...	OMIM:608022
Diastrophic Dysplasia	Joint dislocation, Cerebral calcification, Proximal placement of thumb, Micrognathia, Micromelia,...	ORPHA:628
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, High palate, Gastroesophageal reflux, Joint laxity, Microretrognathia...	ORPHA:98914
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Arachnodactyly,...	ORPHA:2759
Congenital Myasthenic Syndrome	Congenital hip dislocation, High palate, Gastroesophageal reflux, Joint laxity, Microretrognathia...	ORPHA:590
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Prominent superficial...	ORPHA:75508
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Blomstrand Lethal Chondrodysplasia	Micrognathia, Distal shortening of limbs, Increased bone mineral density, Short metacarpal, Rhizo...	ORPHA:50945
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal palmar dermatoglyphics, Gastroesophageal reflux, Finger syndactyl...	ORPHA:2092
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver...	OMIM:301014
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck...	ORPHA:264450
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Protruding ear, Inc...	ORPHA:481152
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb...	OMIM:607323
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Tarsal syn...	ORPHA:1307
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing impairment, Vertebral ...	OMIM:130720
Short-Rib Thoracic Dysplasia 12	Short neck, Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, ...	OMIM:269860
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad...	ORPHA:2249
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Cyanosis, Talip...	OMIM:619879
Skraban-Deardorff Syndrome	Thick upper lip vermilion, Micrognathia, Absent cupid's bow, Cleft palate, Feeding difficulties, ...	OMIM:617616
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo...	OMIM:269150
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Sensorineural hearing impairment, Flexi...	ORPHA:314588
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossificati...	OMIM:183900
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Schneckenbecken Dysplasia	Short neck, Snail-like ilia, Dumbbell-shaped long bone, Advanced tarsal ossification, Flat acetab...	OMIM:269250
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Spina bifida, Non-midline cleft lip, Aplasia/Hypoplasia of the...	ORPHA:1104
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Ost...	OMIM:212720
Robinow Syndrome, Autosomal Recessive 2	Relative macrocephaly, Posteriorly rotated ears, Cleft soft palate, Broad hallux, Micrognathia, S...	OMIM:618529
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl...	OMIM:156510
Tarp Syndrome	Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, poste...	ORPHA:2886
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Abnormal form of the vertebral bodies...	ORPHA:192
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi...	ORPHA:1143
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M...	ORPHA:137888
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormal pinna m...	ORPHA:178303
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate...	OMIM:618363
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cerebral calcification, Medial calcification of large arteries, Abnormal re...	ORPHA:51608
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Joint stiffness, Metatarsus adductus, Coxa valga, Avascular necr...	ORPHA:2557
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl...	ORPHA:2549
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Porencephalic cyst, Anteriorly placed anus, Glossoptosi...	OMIM:117650
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte...	ORPHA:439822
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Fryns Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Abnormal aortic arch morphology, High palat...	ORPHA:2059
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Generalized joint laxity, C...	ORPHA:2962
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Microtia, Macro...	ORPHA:261295
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Median cleft lip and palate, Abnormal pi...	OMIM:184705
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydr...	ORPHA:93262
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Short neck, Micrognathia, Cleft pala...	ORPHA:2015
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis...	OMIM:249600
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo...	OMIM:154400
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Conductive hearing impairment, Abnormal vertebral morphology...	ORPHA:217093
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti...	OMIM:614399
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Hypoplasia of first rib...	OMIM:161200
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Irregularity of vertebral bodies, Conductive hearing impairment, Abn...	ORPHA:580
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Conductive hearing impairment, Abnormal vertebral morphology...	ORPHA:217085
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, S...	OMIM:166250
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Joint ...	ORPHA:90653
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Diffuse white matter abnormalities, Flex...	OMIM:218000
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abno...	ORPHA:1597
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo...	ORPHA:2789
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Micrognathia, Short neck, Bowing of the legs, Flexion contracture, Pterygium, Anisosp...	ORPHA:1865
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing impairment, Vertebral fusi...	ORPHA:959
Tarp Syndrome	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p...	OMIM:311900
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Miss...	ORPHA:3186
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Underfolded helix, Cleft...	OMIM:620107
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, ...	OMIM:119600
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodac...	OMIM:108300
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement	OMIM:276821
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Cerebellar vermis hypoplasia, Overlapping toe, Tented upper lip vermilion, ...	OMIM:619383
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Short neck, Abdominal distention, Diarrhea, Patent ductus arteriosus, Vomiting,...	OMIM:608104
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Micrognathia, Short neck, Bowing of th...	OMIM:255800
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ...	OMIM:234810
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short...	OMIM:252100
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Hype...	OMIM:601492
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy,...	OMIM:610536
Jacobsen Syndrome	Short neck, Feeding difficulties in infancy, Abnormal form of the vertebral bodies, Pachygyria, A...	ORPHA:2308
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,...	OMIM:614078
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas...	ORPHA:3144
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Short neck, Beaded ribs, Abnormal hand bone o...	OMIM:200600
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteolysis involving bones of the upper l...	ORPHA:73
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Mi...	OMIM:611209
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Thin upper lip vermilion, Micrognathia, Short neck, Abdominal distention, Posta...	OMIM:235255
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Proximal placement of thumb, Micrognathia, Micromelia,...	OMIM:270400
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, High palate, Thickened helices, Broad r...	OMIM:608328
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Epistaxis, Impulsivity, Microcephaly, Hypoplasia of the maxilla, Metatars...	ORPHA:293939
Charge Syndrome	Abnormal palmar dermatoglyphics, Micrognathia, Hemivertebrae, Hand monodactyly, Holoprosencephaly...	OMIM:214800
Ear-Patella-Short Stature Syndrome	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clino...	ORPHA:2554
Blount Disease, Adolescent	Genu varum, Osteochondritis dissecans, Bowing of the legs	OMIM:259200
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Abdominal distention, Respiratory insufficiency, Umbilical hernia, ...	OMIM:600972
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Progeroid facial appearance, Hypoplasia of the maxilla, Sensorineural hearing impairm...	OMIM:608154
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Microphthalmia, Syndromic 12	Neonatal death, Pulmonary hypoplasia	OMIM:615524
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Bifid uvula, Dandy-Walker malformation, Joint laxity, Tapered finger, Paten...	OMIM:300968
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand...	OMIM:246560
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Cerebral white matter atrophy, Neonatal respiratory distr...	OMIM:615042
8Q24.3 Microdeletion Syndrome	Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single tran...	ORPHA:508488
Dysostosis Multiplex, Ain-Naz Type	Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular r...	OMIM:619345
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Dental crowding, High palate, Microdontia, Broad ribs, Genu va...	OMIM:269300
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Feeding difficulties in infancy, Abnormal aortic arch morphology, Gastr...	ORPHA:567
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Mesomelia, Brachydactyly, Micrognathia	ORPHA:1277
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Clinodacty...	ORPHA:794
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Atres...	ORPHA:3236
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ...	OMIM:305400
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Multiple joint contractures, Congenital hip dislocation, Cerebellar vermis hypoplasia, Single tra...	OMIM:618291
Arterial Tortuosity Syndrome	Respiratory distress, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachno...	ORPHA:3342
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Nasogastric tube feeding in infancy, Reduced bone mineral d...	ORPHA:2909
Desmosterolosis	Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posterio...	ORPHA:35107
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Narrow greater sciatic notch, Widely spaced teet...	OMIM:253220
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Plantar pits, Hemivertebrae, Vertebral fusion, Odontogenic ke...	OMIM:109400
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Short neck, Bowing of the legs, Knee flexion contracture, Abnormal calc...	OMIM:271665
Viss Syndrome	Chronic gastritis, Prominent superficial blood vessels, Epidural hemorrhage, Tortuous cerebral ar...	OMIM:619472
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Long philtrum, Sho...	OMIM:258480
20Q13.33 Microdeletion Syndrome	Hallux valgus, Low-set, posteriorly rotated ears, Sacral dimple, Pes planus, Dilation of Virchow-...	ORPHA:261311
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Microcephaly, Abnormality of the denti...	OMIM:258865
Cri-Du-Chat Syndrome	Single transverse palmar crease, Short neck, Feeding difficulties in infancy, Short metatarsal, O...	OMIM:123450
Trisomy 18	Pointed helix, Holoprosencephaly, Bilateral single transverse palmar creases, Microretrognathia, ...	ORPHA:3380
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro...	ORPHA:235
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, High palate, Bilateral coxa valga, Bifid uvula, Scapu...	OMIM:615582
Qazi-Markouizos Syndrome	Tapered finger, High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipat...	ORPHA:3010
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu...	OMIM:602418
Bardet-Biedl Syndrome 16	Recurrent otitis media, Polydactyly, Respiratory distress, Hearing impairment	OMIM:615993
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath...	OMIM:620369
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola...	ORPHA:2972
Multiple Synostoses Syndrome 4	Pes planus, Otosclerosis, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Abnormality of the e...	ORPHA:457395
Tibial Torsion, Bilateral Medial	Bowing of the legs, Scoliosis, Tibial torsion	OMIM:188800
Ulbright-Hodes Syndrome	Respiratory distress, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phoco...	ORPHA:3404
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	OMIM:309520
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Short nose, Hypoplastic pubic ...	OMIM:614524
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Abnormal hand morphology, Moyamoya phenomenon, Small hand, Stroke-like episo...	OMIM:300845
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Abnor...	ORPHA:3104
22Q11.2 Duplication Syndrome	Micrognathia, Microcephaly, Cleft palate, Anterior creases of earlobe, Transposition of the great...	ORPHA:1727
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l...	ORPHA:1423
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso...	ORPHA:94068
Shprintzen-Goldberg Syndrome	Osteopenia, Communicating hydrocephalus, Apnea, Micrognathia, Hypoplasia of the maxilla, High, na...	ORPHA:2462
Vacterl With Hydrocephalus	Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, E...	ORPHA:3412
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Short neck, Swollen lip, Calcaneovalgus deformity, Neonatal death, Pter...	OMIM:256520
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri...	OMIM:268300
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Limb joint contracture, Craniosynostosis, Micrognathia, Ankle flexi...	ORPHA:284417
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Respiratory distress, Ankle flexion contracture, Micrognathia, High, narrow palate, P...	OMIM:608799
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Gastroesophageal reflux, Thickened helices, Bifid uvula,...	OMIM:619480
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp...	ORPHA:894
Genitopalatocardiac Syndrome	Micrognathia, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the great arteri...	OMIM:231060
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Long foot, Abnormal thumb morphology, Metatarsus adductus, Sensorineural hearing impairment, Spin...	ORPHA:500095
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Spin...	ORPHA:93346
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Restlessness, Edema of the dorsum of feet, Tapered finger, Microcephaly, Se...	ORPHA:544503
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Pfeiffer Syndrome Type 2	Respiratory distress, Aqueductal stenosis, Deviation of the thumb, High palate, Finger syndactyly...	ORPHA:93259
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ...	ORPHA:1248
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach...	ORPHA:137914
Distal Deletion 15Q	Single transverse palmar crease, Micrognathia, Generalized joint laxity, 2-3 toe cutaneous syndac...	ORPHA:1596
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Irregular femoral...	OMIM:613805
7Q31 Microdeletion Syndrome	Hyperactivity, Hypoplasia of the maxilla, Nasogastric tube feeding in infancy, Hypoplasia of the ...	ORPHA:251061
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypoplastic iliac wing,...	OMIM:263650
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Micrognathia, Feeding difficulties in infancy, Abnormality of the gingiva, Osteopathia striata, G...	ORPHA:513456
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/...	ORPHA:2662
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Atelosteogenesis Type Iii	Micrognathia, Short tubular bones of the hand, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Short digit, Aplasia of th...	OMIM:142900
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Mucopolysaccharidosis Type 3	Flexion contracture, Abnormal form of the vertebral bodies, Reduced bone mineral density, Otitis ...	ORPHA:581
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, Narrow foot, Finger clinodactyly, ...	ORPHA:2896
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Multiple prenatal fractures, Short neck, Beaded ribs, Flexion contractu...	OMIM:616897
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough	ORPHA:77260
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Iniencephaly	Orofacial cleft, Holoprosencephaly, Dandy-Walker malformation, Encephalocele, Rhizomelia, Spina b...	ORPHA:63259
Acalvaria	Talipes, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencephaly...	ORPHA:945
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp...	ORPHA:199241
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy...	OMIM:252500
Chromosome 22Q11.2 Duplication Syndrome	Abnormal pinna morphology, Micrognathia, Microcephaly, Velopharyngeal insufficiency, High palate,...	OMIM:608363
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Feeding difficulties in infancy, Sh...	ORPHA:193
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Jaundice, Early ossification of capital femoral epiphys...	OMIM:208500
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hypoplasia of the femoral hea...	OMIM:607014
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Coffin-Siris Syndrome 11	Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Feeding difficulties in infancy, Es...	OMIM:618779
Intellectual Developmental Disorder, Autosomal Recessive 68	Pes planus, Microcephaly, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding...	OMIM:618302
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Abnormal foot morphology, Preaxial...	ORPHA:64754
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Pr...	ORPHA:96148
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Microcephaly, Long fingers, Thick lower lip vermilion, Simplified gyral pattern, ...	OMIM:614407
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Microcephaly, Micrognathia, Wide nasal bridge, Feeding difficulties, Thin v...	ORPHA:261304
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition...	OMIM:216300
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Coxa vara, Genu valgu...	ORPHA:166002
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Fe...	ORPHA:87
Sialuria	Thin upper lip vermilion, 2-3 toe syndactyly, Wide nasal bridge, Macrocephaly, Macroglossia, High...	OMIM:269921
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavi...	OMIM:620099
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal hand metaphysis morphology, Ulnar metaphyseal irregularity, Broad proximal phalanges of ...	ORPHA:174
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea...	ORPHA:314655
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ...	OMIM:187600
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural h...	ORPHA:1529
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona...	OMIM:620076
Cohen Syndrome	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Hig...	OMIM:216550
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Nasogastric tube feeding in infancy, Calcaneovalgus defor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Nasogastric tube feeding in infancy, Calcaneovalgus defor...	ORPHA:363958
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of ...	ORPHA:85165
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Holoprosencephaly	Short neck, Feeding difficulties in infancy, Deep philtrum, Abnormal form of the vertebral bodies...	ORPHA:2162
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Short neck, D...	OMIM:618622
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Temple Syndrome	Relative macrocephaly, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Flexion contracture...	OMIM:616222
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Pulmonary hypoplasia	OMIM:616733
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Transient ischemic ...	ORPHA:1830
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H...	OMIM:616414
Pallister-Hall Syndrome	Hemivertebrae, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of li...	OMIM:146510
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Micrognathia, High, narrow p...	OMIM:619941
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi...	OMIM:114300
Schilbach-Rott Syndrome	Posteriorly rotated ears, Micrognathia, Microcephaly, Long nose, 2-3 toe cutaneous syndactyly, Su...	OMIM:164220
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Smith-Magenis Syndrome	Mandibular prognathia, Orofacial cleft, Short palm, Abnormal repetitive mannerisms, Self-mutilati...	OMIM:182290
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Microcephaly, Flexio...	OMIM:222765
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, High, nar...	OMIM:122470
Monosomy 18Q	Mandibular prognathia, Abnormal palmar dermatoglyphics, Diffuse white matter abnormalities, Downt...	ORPHA:1600
Familial Visceral Myopathy	Low-set, posteriorly rotated ears, Aganglionic megacolon, Camptodactyly of finger, Arachnodactyly...	ORPHA:2604
Succinic Acidemia	Respiratory distress	OMIM:600335
Larsen-Like Syndrome	Joint laxity, Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cle...	OMIM:608545
Isotretinoin-Like Syndrome	Micrognathia, Microcephaly, Hydrocephalus, Patent ductus arteriosus, Aplasia/Hypoplasia of the in...	ORPHA:2306
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph...	ORPHA:2872
Charge Syndrome	Feeding difficulties in infancy, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, H...	ORPHA:138
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Hypoplasia of the maxilla, Short nose, Simplified gyral pattern, Cleft palate, Cer...	OMIM:614261
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta...	ORPHA:411703
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Ankle clon...	ORPHA:1435
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Probst bundles, Thin upper lip vermilion, Sandal gap, High, narrow palate, ...	OMIM:612863
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal jo...	ORPHA:1145
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Smooth philtrum, Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominen...	ORPHA:293725
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Cerebral calcification, Micromelia, Short neck, Hypoplasia o...	ORPHA:1798
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Juberg-Hayward Syndrome	Toe syndactyly, Microcephaly, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abn...	ORPHA:2319
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Abnormal curvature of the vertebral column, Gastroesophageal reflux, Otitis medi...	ORPHA:353281
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narro...	ORPHA:2409
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Hem...	OMIM:213980
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
1Q21.1 Microdeletion Syndrome	High palate, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Broad hallux phalanx, P...	ORPHA:250989
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Delayed epiphyseal o...	ORPHA:226313
Crisponi/Cold-Induced Sweating Syndrome 1	Micrognathia, Short neck, Feeding difficulties in infancy, High palate, Short palm, Tapered finge...	OMIM:272430
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T...	OMIM:211960
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Brachycephaly, Trichomegaly, And Developmental Delay	Prominent fingertip pads, Single transverse palmar crease, Microcephaly, Supernumerary tooth, Sub...	OMIM:617412
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the ma...	ORPHA:314679
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure	OMIM:616867
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing, Subcutaneous calcification	OMIM:617993
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse...	OMIM:251450
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal...	ORPHA:3201
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Agenesis of c...	OMIM:619194
Dysspondyloenchondromatosis	Joint dislocation, Cerebral calcification, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry,...	ORPHA:85198
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Branchiootic Syndrome	Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in...	ORPHA:52429
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Micromelia, Microgna...	OMIM:224410
Anauxetic Dysplasia 3	Short metacarpal, Thoracolumbar kyphoscoliosis, Metaphyseal cupping, Hip subluxation, Wide anteri...	OMIM:618853
Frontorhiny	Low-set, posteriorly rotated ears, Pericallosal lipoma, Encephalocele, Lumbar hyperlordosis, Camp...	ORPHA:391474
Neuropathy, Congenital Hypomyelinating, 3	Micrognathia, Flexion contracture, High palate, Gastroesophageal reflux, Neonatal death, Abnormal...	OMIM:618186
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Dilation of Virchow-Robin spaces, U...	OMIM:603671
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor...	OMIM:616723
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Pseudoepiphyses, Gastroesophageal reflux, Conductive hearing impairment, Joint...	OMIM:157800
Amish Lethal Microcephaly	Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Micrognathia, Mi...	ORPHA:99742
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Feeding difficulties in infancy, Malnutrition, Upper airway o...	OMIM:612776
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Dental crowding, Micrognathia, Cleft hard palate, Short neck, Clinodactyly of the 5th finger, Con...	OMIM:300990
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Long n...	ORPHA:2636
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Bronchiectasis	OMIM:241600
Adnp Syndrome	Respiratory distress, Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger...	ORPHA:404448
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te...	OMIM:257850
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout...	OMIM:619950
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies,...	ORPHA:233
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage	ORPHA:238459
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:3346
Esophageal Atresia	Respiratory distress, Feeding difficulties in infancy, Gastrointestinal dysmotility, Laryngotrach...	ORPHA:1199
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Respiratory distress, Postaxial polydactyly, Micromelia, Hypop...	OMIM:617895
Toriello-Carey Syndrome	Micrognathia, Short neck, Feeding difficulties in infancy, Partial agenesis of the corpus callosu...	ORPHA:3338
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patellar aplasia, Thick l...	OMIM:613804
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Anteverted ears, Downturned corners of mouth, Gastro...	OMIM:616268
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Subcortical band heterotopi...	OMIM:618737
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Micrognathia, Short neck, Nasogastric tube feeding in infancy, Feeding diff...	ORPHA:177907
Hydrolethalus	Low-set, posteriorly rotated ears, Absent septum pellucidum, Micromelia, Micrognathia, Postaxial ...	ORPHA:2189
Hyperparathyroidism, Transient Neonatal	Osteopenia, Communicating hydrocephalus, Respiratory distress, Femoral bowing, Gastroesophageal r...	OMIM:618188
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Aggressive behavior, Pyloric stenosis, Wide...	ORPHA:457279
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Posteriorly rotated ears, Single transverse palmar crease, Microcephaly, Patent du...	OMIM:615502
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Cerebral white matter atrophy, Multiple joint contractures, Short neck, Nas...	ORPHA:99646
Craniofacioskeletal Syndrome	Pes planus, Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Microcephaly, Paten...	OMIM:300712
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Con...	OMIM:300166
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Generalized joint laxity, Fused t...	ORPHA:93932
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia	OMIM:617468
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,...	OMIM:613803
Orofaciodigital Syndrome Type 5	High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ...	ORPHA:2919
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac...	ORPHA:3003
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Unilateral polymicrogyria, Limited elbow movement, Microcephaly, Abnormal hand mo...	ORPHA:319171
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Nasogastric tube feeding in i...	OMIM:106260
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Short neck, Micrognathia, High palate, Biparietal narrowing, Broad h...	ORPHA:251071
Diaphanospondylodysostosis	Respiratory distress, Short neck, Missing ribs, Myelomeningocele, Cleft palate, Narrow pelvis bon...	ORPHA:66637
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Occipital Horn Syndrome	Osteopenia, Cerebral calcification, Venous insufficiency, High, narrow palate, Coxa vara, Humerus...	ORPHA:198
17Q23.1Q23.2 Microdeletion Syndrome	Patellar hypoplasia, Protruding ear, Congenital contracture, Gastroesophageal reflux, Widely spac...	ORPHA:261279
Double Outlet Right Ventricle	Cyanosis, Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard ...	ORPHA:3426
Crouzon Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Narrow palate, Multiple sut...	ORPHA:207
Acrofacial Dysostosis, Catania Type	Microretrognathia, Low-set, posteriorly rotated ears, Finger syndactyly, Bilateral single transve...	ORPHA:1786
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short finger, Clinodactyly o...	OMIM:604381
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrotia, Patent ductus arteriosus, Cleft ...	OMIM:616462
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, High palate, Small earlob...	OMIM:608156
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus arteriosus, Clinodactyly ...	ORPHA:228190
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Short neck, Micrognathia, Abdominal distention, Postaxial hand polydact...	ORPHA:1655
Agnathia-Otocephaly Complex	Respiratory distress, Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Holopr...	OMIM:202650
Hypertelorism, Microtia, Facial Clefting Syndrome	Micrognathia, Microcephaly, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Small thenar emine...	OMIM:239800
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Protruding ear, Femoral bowing, Limitation of knee mobility, Disloc...	OMIM:614856
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Hypoplasia of the maxilla,...	OMIM:166300
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Short ne...	OMIM:210710
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Thanatophoric Dysplasia Type 1	Brachydactyly, Short femur, Bowing of the long bones, Micromelia, Joint stiffness, Hypoplastic il...	ORPHA:1860
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Rocker bottom foot, ...	OMIM:606851
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d...	OMIM:605274
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Feeding difficulti...	OMIM:115150
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota...	ORPHA:93260
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:353277
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Hypoxemia...	ORPHA:36238
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensorineural hearing...	OMIM:109120
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Flexion contra...	OMIM:608149
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Recurrent fractures, ...	ORPHA:83
Sweeney-Cox Syndrome	Uplifted earlobe, Micrognathia, High palate, Gastroesophageal reflux, Short philtrum, 2-5 toe syn...	OMIM:617746
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflu...	OMIM:618494
Legg-Calvé-Perthes Disease	Cartilage destruction, Joint dislocation, Abnormality of the dentition	ORPHA:2380
Schisis Association	Encephalocele, Micromelia, Microcephaly, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cl...	ORPHA:63862
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Hypopl...	ORPHA:397973
Emanuel Syndrome	Multiple joint contractures, Congenital hip dislocation, Dental crowding, Micrognathia, High pala...	ORPHA:96170
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorine...	OMIM:606164
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Posteriorly rotated ears, Overlapping toe, Craniosynostosis, F...	OMIM:123790
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Micrognathia, Kyphosis, Wide anterior fontanel, Protuberant abdomen, Macrocephaly,...	OMIM:618272
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin...	ORPHA:298
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Doors Syndrome	Respiratory distress, Short lingual frenulum, Hemivertebrae, Abnormal finger morphology, Downturn...	ORPHA:79500
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri...	ORPHA:666
You-Hoover-Fong Syndrome	Kyphoscoliosis, Hearing impairment, Microcephaly, Accessory oral frenulum, Cleft palate, Vascular...	OMIM:616954
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni...	OMIM:602535
Native American Myopathy	Joint laxity, Micrognathia, Conductive hearing impairment, Cleft palate, Abnormal curvature of th...	ORPHA:168572
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Long foot, Micrognathia, Microcephaly, High, narrow palate,...	ORPHA:2707
Isolated Polycystic Liver Disease	Back pain, Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdomina...	ORPHA:2924
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Fee...	OMIM:619793
Breath-Holding Spells	Cyanosis	OMIM:607578
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Lateral humeral condyle aplasia, Symphalangism affecting the...	ORPHA:2741
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Posteriorly rotated ears, Bowed hum...	OMIM:619479
Cardiofaciocutaneous Syndrome	Short neck, Feeding difficulties in infancy, High palate, Biparietal narrowing, Thickened helices...	ORPHA:1340
Mosaic Trisomy 16	Syndactyly, Abnormal ear morphology, Single coronary artery origin, Single transverse palmar crea...	ORPHA:1708
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol...	OMIM:277300
Marden-Walker Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Bifid uvula, Ar...	ORPHA:2461
Alagille Syndrome 1	Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Long nose, Abnormal rib morphology,...	OMIM:118450
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Condu...	ORPHA:2502
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Downturned corners of mouth, Compulsive behaviors, Bifid uvula, Long...	ORPHA:404440
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Cubitus valgus, Wide nasal bridge, Protruding ear, Genu valgum, Joint hype...	ORPHA:1778
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Zttk Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Flexion contracture, Hemivertebrae, P...	OMIM:617140
Neuhauser Syndrome	Osteopenia, Pes planus, Arachnodactyly, Genu recurvatum, Micrognathia, Microcephaly, Cupped ear, ...	OMIM:249310
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hypoplasi...	OMIM:620157
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Aicardi Syndrome	Cerebellar vermis hypoplasia, Proximal placement of thumb, Partial agenesis of the corpus callosu...	OMIM:304050
Chromosome 1P36 Deletion Syndrome, Distal	Feeding difficulties in infancy, Orofacial cleft, High palate, Gastroesophageal reflux, Thickened...	OMIM:607872
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Short neck, Feeding difficulties in infancy, Deep philtrum, High palate, Widely spaced teeth, Thi...	OMIM:617506
Hypophosphatasia, Childhood	Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the legs, Rachitic ro...	OMIM:241510
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Macrotia, Anal atresia	ORPHA:93950
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, High, narrow palate, Abnormal finger morphology, Glossoptosis, Abnormality of front...	ORPHA:436003
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Radial club hand, Preaxial ha...	ORPHA:3312
Mosaic Trisomy 1	Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Orofacial clef...	ORPHA:1692
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia	ORPHA:93283
Raine Syndrome	Mandibular prognathia, Cerebral calcification, Micromelia, Micrognathia, Short neck, Protruding e...	OMIM:259775
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Patent ductus ...	ORPHA:2095
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmotility, Hemiver...	ORPHA:500150
Marshall Syndrome	Cerebral calcification, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Os...	ORPHA:560
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Posteriorly rotated ears, Micrognathia, Lower limb asymmetry, Crowded ma...	ORPHA:2063
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Feeding difficulties, Short foot, High ...	ORPHA:96184
Craniofaciofrontodigital Syndrome	Osteopenia, Respiratory distress, Abnormal cerebral vascular morphology, Gastrointestinal dysmoti...	ORPHA:363705
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea, Abdominal distention, Sensorineural hearing impairment, Frontotempor...	ORPHA:79097
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Buratti-Harel Syndrome	Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Broad hallux, Velopharyngeal insuffic...	OMIM:619314
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Ankle flexion contracture, Abdominal pain, Abdominal distention, Diarrhea, Abnormal...	ORPHA:100924
Tetrasomy 9P	Joint dislocation, Glue ear, Dental crowding, Micrognathia, Short neck, Downturned corners of mou...	ORPHA:3310
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Micrognathia, Short neck, High, narrow palate, Joint ...	ORPHA:2516
Hydrolethalus Syndrome 1	Median cleft lip, Abnormal pinna morphology, Absent septum pellucidum, Abnormal cortical gyration...	OMIM:236680
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:255320
Radio-Renal Syndrome	Respiratory distress, Micromelia, Short neck, Micrognathia, High, narrow palate, Dyspnea, Hypopla...	ORPHA:3015
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligod...	ORPHA:2044
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossifica...	ORPHA:1190
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cutis marmorata, Protruding tongue, Short neck, Sensorineural hearing impairment, Hydrocephalus, ...	OMIM:612938
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ...	ORPHA:251014
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Short neck, Downturned corners of mouth, High palate, Gastro...	OMIM:616364
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d...	ORPHA:861
Mgat2-Cdg	Osteopenia, Low-set, posteriorly rotated ears, Respiratory distress, Posteriorly rotated ears, Ga...	ORPHA:79329
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Short neck, Hypoplasia of the maxilla, Upper limb perome...	ORPHA:1299
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Downturned corners of mouth, Period...	ORPHA:955
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo...	ORPHA:740
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ...	OMIM:620265
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we...	ORPHA:254875
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Conductive hearing imp...	OMIM:102500
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Bowing of the legs	ORPHA:156728
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona...	ORPHA:133
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Oste...	ORPHA:828
2Q37 Microdeletion Syndrome	Short neck, Downturned corners of mouth, Compulsive behaviors, Short palm, Conductive hearing imp...	ORPHA:1001
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, Abnormality of t...	ORPHA:2491
Laron Syndrome	Limb undergrowth	OMIM:262500
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High...	OMIM:135500
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormal femur morphology, Abnorm...	ORPHA:429
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Respiratory distress, Cerebral white matter atrophy, Thin upper lip vermilion, Microg...	ORPHA:329178
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Micrognathia, Short neck, Microcephaly, Patent ductus arteriosus, Wide nasal b...	ORPHA:2282
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Microcephaly, Narrow mout...	OMIM:608013
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Micrognathia, Equinus calcaneus, Prominent vei...	ORPHA:536532
Schimke Immunoosseous Dysplasia	Osteopenia, Lumbar hyperlordosis, Transient ischemic attack, Ovoid vertebral bodies, Short neck, ...	OMIM:242900
Feingold Syndrome Type 1	Toe syndactyly, Jejunal atresia, Micrognathia, Short middle phalanx of the 2nd finger, Esophageal...	ORPHA:391641
Bor Syndrome	Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ...	ORPHA:107
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Short ribs, Limb undergrowth, Abnormal metaphysis morpho...	ORPHA:1803
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Broad hallux, Sandal gap, Tented upper lip vermilion,...	OMIM:600987
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte...	ORPHA:2311
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Broad skull, Intracranial hemorrhage, Short philtrum, Lo...	ORPHA:163979
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Hydranencephaly, Single transverse palmar crease, Short neck, 2-3 toe syndacty...	OMIM:236500
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Primary mic...	OMIM:620183
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Lethal Congenital Contracture Syndrome 8	Neonatal death, Death in infancy, Hammertoe	OMIM:616287
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla...	ORPHA:228396
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis, Palmoplantar cutis gyrata, Hearing abnormality, Hydroceph...	ORPHA:1555
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Impulsivity, Microcephaly, Protruding tongue, Aggressive behavior, Paroxysmal bu...	OMIM:619580
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Reduced cerebral white matter volume, Short neck, Irregular vertebral endplates, Posterior scallo...	OMIM:610442
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Poor suck, Micrognathia	OMIM:300580
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Abno...	ORPHA:2588
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Achondrogenesis Type 2	Pulmonary hypoplasia, Cardiorespiratory arrest	ORPHA:93296
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Os...	OMIM:259770
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Camptodactyly of f...	ORPHA:2633
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Death in infa...	OMIM:610682
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Nasogastric tube feeding in infancy, Protruding ear, Hypoplasia of the brainstem, Gastroesophagea...	ORPHA:268261
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Death in infancy, Hypoventilation, Elbow contracture, Microcephaly, Abdominal distention, Sensori...	OMIM:620275
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Cutis marmorata, Short neck, Thick lower lip vermil...	ORPHA:2563
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Flat Face-Microstomia-Ear Anomaly Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal oral mucosa morphology, Micr...	ORPHA:1968
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short distal phalanx of finger	ORPHA:2776
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Cyanosis, Aggressive behavior, Dysplas...	ORPHA:488627
Velocardiofacial Syndrome	Talipes, Abnormality of the hand, Microcephaly, Aggressive behavior, Velopharyngeal insufficiency...	OMIM:192430
Kleefstra Syndrome	Mandibular prognathia, Tented upper lip vermilion, Downturned corners of mouth, Gastroesophageal ...	ORPHA:261494
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Respiratory distress, Tongue atrophy, Respiratory failure requiring assisted...	OMIM:211530
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of teeth, Prominenc...	ORPHA:2215
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow greater scia...	OMIM:250220
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Supernume...	OMIM:617088
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Short neck, Downturned corners of mouth, Shor...	OMIM:601808
Feingold Syndrome 1	Jejunal atresia, Posteriorly rotated ears, Hearing impairment, Micrognathia, Microcephaly, Esopha...	OMIM:164280
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Microcephaly, Abnormal fing...	ORPHA:896
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Overriding aorta, Micrognathia, Short neck, ...	OMIM:617022
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Respiratory distress, Congenital hip dislocation, Cerebellar vermis hypoplasia, Abnor...	ORPHA:480880
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl...	OMIM:130070
Kabuki Syndrome 2	Micrognathia, Feeding difficulties in infancy, Protruding ear, High palate, Prominent fingertip p...	OMIM:300867
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Shor...	OMIM:305450
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy...	OMIM:261540
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Tethered cord, Talipes, Microcephaly, Sensorineural hearing impairment, Su...	OMIM:617660
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Short neck, Absent thumb, Short thumb, Microcep...	OMIM:609053
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,...	ORPHA:3253
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th...	ORPHA:306542
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Recurrent fractures, Carious teeth, Osteoporosis, Femoral b...	OMIM:126550
Dubowitz Syndrome	Single transverse palmar crease, Micrognathia, Feeding difficulties in infancy, Protruding ear, H...	OMIM:223370
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Aqueductal stenosis, Dextrotransposition of the...	OMIM:306955
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti...	OMIM:164210
Pulmonary Alveolar Microlithiasis	Cyanosis, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneum...	ORPHA:60025
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Scapular winging, Micrognathia, Submucous cleft hard palate, Darwin tubercle of helix...	OMIM:619122
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Premature...	OMIM:113620
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Short neck, Hypoplasia of the maxilla, Tapered finger, Microcephaly, Incre...	OMIM:609460
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Respiratory insufficiency, Protru...	ORPHA:169186
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocat...	OMIM:615777
Pseudoachondroplasia	Brachydactyly, Increased laxity of fingers, Shortening of all metacarpals, Hypoplasia of the odon...	ORPHA:750
Walker-Warburg Syndrome	Posteriorly rotated ears, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pol...	ORPHA:899
Pericardial And Diaphragmatic Defect	Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration	ORPHA:2847
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s...	ORPHA:2363
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Unilateral radial aplasia, Feeding difficulties in infancy, Aplasi...	ORPHA:476126
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death	OMIM:231680
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Overfolding of the superior helices, Hypoplastic ischia, Micrognathia, B...	ORPHA:313855
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Sensorineural hearing impairment, Feeding difficulties, G...	OMIM:616974
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears, Clinodactyly of the 5th f...	OMIM:167730
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Respiratory insufficiency	OMIM:267430
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Cerebral hemor...	OMIM:620278
Boomerang Dysplasia	Absent radius, Wide nasal bridge, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Respiratory distress, Aplasia/Hypoplasia of the cerebellum, Ho...	ORPHA:990
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Tapered finger, Microcephaly, Aggressive beha...	OMIM:619680
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Prea...	OMIM:263520
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough	ORPHA:142
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Hypophosphatasia, Infantile	Apnea, Anorexia, Bowing of the legs, Micromelia, Intracranial hemorrhage, Vomiting, Unossified ve...	OMIM:241500
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi...	OMIM:613717
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Stüve-Wiedemann Syndrome	Osteopenia, Respiratory distress, Apnea, Micromelia, Feeding difficulties in infancy, Metaphyseal...	ORPHA:3206
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Kyphosis, Chronic constipation, High...	OMIM:300676
Toluene Embryopathy	Tapered finger, Micrognathia, Microcephaly, Protruding ear, Thin vermilion border, Hypoplasia of ...	ORPHA:1920
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Myopathy And Diabetes Mellitus	Respiratory distress, Achilles tendon contracture, Sensorineural hearing impairment, Shoulder gir...	ORPHA:2596
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Pes planus...	OMIM:614557
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb...	ORPHA:93351
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Micrognathia, Co...	ORPHA:1071
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal basal ganglia MRI signal intensity, Short humerus, Respiratory distress, Short femur, Ap...	ORPHA:17
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Thin long bone diaphyses, Heari...	OMIM:616507
Donohue Syndrome	Long foot, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Larg...	OMIM:246200
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Abnormality of the knee, Scapular winging, Respiratory distress, Hypoventi...	ORPHA:98915
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Micrognathia, Proximal femoral meta...	ORPHA:397715
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C...	ORPHA:2038
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density, Spinal dysraphism	ORPHA:1114
Diamond-Blackfan Anemia	Radial artery aplasia, Cleft soft palate, Micrognathia, Short neck, Short thumb, Absent thumb, Pa...	ORPHA:124
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Glossoptosis, High ...	OMIM:616145
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Externa...	ORPHA:438216
Diamond-Blackfan Anemia 10	Respiratory distress, Posteriorly rotated ears, Micrognathia, Patent ductus arteriosus, Cleft pal...	OMIM:613309
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Otitis media, Conductive hearing impairm...	ORPHA:576
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Micrognathia, Missing ribs, Large hands, Abnormal metaphysi...	ORPHA:1801
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Restlessness, Short distal phalanx of finger	OMIM:300266
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Gastroesoph...	OMIM:616580
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Rapp-Hodgkin Syndrome	Syndactyly, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Velopharyngeal insufficiency...	OMIM:129400
Pallister-Hall-Like Syndrome	Death in infancy, Pulmonary hypoplasia	OMIM:241800
Thyroid Hemiagenesis	Abdominal distention, Jaundice, Macroglossia, Constipation, Umbilical hernia	ORPHA:95719
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Micrognathia, Posterior rib fusion, Neonatal death, Neonatal respiratory distress, Esophageal atr...	OMIM:265380
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No...	ORPHA:199302
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineural hearing impairment, Abnormal repe...	ORPHA:261197
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Reduced cerebral white matter volume, Kyphoscoliosis, Microcephaly, Hypopla...	OMIM:617977
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Overlapping toe, Microcephaly, Partial agenesis of the corpus callosu...	OMIM:617478
Restrictive Dermopathy 1	Prominent superficial blood vessels, Micrognathia, Flexion contracture, Overtubulated long bones,...	OMIM:275210
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Abnormal dental enamel morphology, Feeding difficulties in infancy, Hydrocephalus, Cl...	ORPHA:1812
Adiposis Dolorosa	Abdominal distention, Constipation, Painful subcutaneous lipomas	OMIM:103200
Cardiac-Valvular Ehlers-Danlos Syndrome	Joint dislocation, Genu recurvatum, Dental crowding, Calcaneovalgus deformity, Absent phalangeal ...	ORPHA:230851
Trisomy 8Q	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Short ...	ORPHA:1752
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Respiratory insufficiency due to muscle weakness, Death in infancy, Neonatal death	OMIM:617184
Triploidy	Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Micrognathia, Short...	ORPHA:3376
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hearing abnormality, Wide ...	ORPHA:2021
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Tapered finger, M...	OMIM:613603
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Gastroesophagea...	ORPHA:95699
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, ...	ORPHA:352665
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Feeding difficulties i...	OMIM:244450
Prolidase Deficiency	Arachnodactyly, Bilateral single transverse palmar creases, Micrognathia, Carious teeth, Erythema...	ORPHA:742
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, High palate, Gastroesophageal reflux, Hippocampal atrophy, Abnormal...	OMIM:619325
Intellectual Developmental Disorder, Autosomal Dominant 58	Posteriorly rotated ears, Single transverse palmar crease, Dental crowding, Protruding tongue, Mi...	OMIM:618106
Ophthalmoplegia, External, And Myopia	Absent patellar reflexes, Spina bifida, Absent Achilles reflex	OMIM:311000
Nicolaides-Baraitser Syndrome	Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Sh...	OMIM:601358
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Absent Achilles refle...	OMIM:620011
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Short ...	ORPHA:63446
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Compuls...	OMIM:618454
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Patent ductus arteriosus, Cupped ear, Flat acetabular roof, Macrocephaly, Anterio...	OMIM:617159
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hypoventilation, A...	ORPHA:79330
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting	ORPHA:313906
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple...	OMIM:612387
Lead Poisoning	Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, C...	ORPHA:330015
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Abdominal distention, Dyspnea	OMIM:174050
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Short metatarsal, Small hand, Short foot, Short palm, Short phalanx...	OMIM:180870
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Clinodactyly of the 5th finger, Conductive hearing ...	OMIM:257920
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ...	ORPHA:2521
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Brachydactyly, Camptodactyly of finger, Micromelia, Ulnar deviation of finger	ORPHA:2928
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Respiratory insufficiency,...	OMIM:187601
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar...	ORPHA:99050
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mob...	ORPHA:3145
Isolated Childhood Apraxia Of Speech	Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Feeding difficulties, Abnormal...	ORPHA:209908
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Anteriorl...	OMIM:612289
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Micrognathia, Alobar holoprosencephaly, Gastroesophageal reflux, Aplasia o...	OMIM:301043
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage, Macrocephaly	ORPHA:2867
Keutel Syndrome	Hearing impairment, Pulmonary artery stenosis, Recurrent sinusitis, Calcification of cartilage, R...	ORPHA:85202
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrotia	ORPHA:93945
Gabriele-De Vries Syndrome	Hallux valgus, Posteriorly rotated ears, Sandal gap, Aortopulmonary collateral arteries, Microgna...	OMIM:617557
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, De...	OMIM:619445
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Postaxial polydactyly, Megalencephaly, Kyphosis, Hydrocephalus, Thick corpus ...	OMIM:603387
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu...	ORPHA:2167
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Long nose, Abnormal form of the vertebral bodies, Clinodactyly of the 5th ...	ORPHA:2769
Primrose Syndrome	Cerebral calcification, Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture,...	OMIM:259050
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial ag...	OMIM:619103
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate...	OMIM:617063
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Cough	ORPHA:99825
Waardenburg Syndrome, Type 1	Mandibular prognathia, Spina bifida, Congenital sensorineural hearing impairment, Myelomeningocel...	OMIM:193500
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Adducted thumb	OMIM:619334
Nasopalpebral Lipoma-Coloboma Syndrome	Microcephaly, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Cupped ear, Lo...	ORPHA:2399
Short Stature-Micrognathia Syndrome	Joint laxity, Rhizomelia, Micrognathia, Bowing of the legs, Coxa valga, Metaphyseal widening, Mic...	OMIM:617164
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of...	OMIM:608728
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th...	OMIM:604757
Larsen Syndrome	Finger syndactyly, Brachydactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bo...	ORPHA:503
Thanatophoric Dysplasia	Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:2655
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Cerebral calcification, Short neck, Microcephaly, Metaphyseal widening, Fle...	OMIM:617303
Fanconi Anemia, Complementation Group F	Sacral dimple, Pneumonia, Absent thumb, Microcephaly, Short thumb, Patent ductus arteriosus, Hypo...	OMIM:603467
Camurati-Engelmann Disease	Anorexia, Feeding difficulties in infancy, Abnormal tibia morphology, Craniofacial osteosclerosis...	ORPHA:1328
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Hydrocep...	ORPHA:85284
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Micrognathia, Short n...	ORPHA:263508
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Feeding difficulties in infancy, Deep philtrum, Sh...	OMIM:617137
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Joint dislocation, Thoracic scoliosis, Distal joint laxity, Generalized joint laxity,...	ORPHA:1900
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Hsd10 Disease, Infantile Type	Restlessness, Diffuse cerebral atrophy, Cyanosis, Microcephaly, Gastrointestinal dysmotility, Cer...	ORPHA:391428
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Feeding difficulties, Cervical myelopath...	OMIM:207950
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Joint dislocation, Camptodact...	ORPHA:2008
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Feeding difficulties in infancy, Aplasia of the pe...	ORPHA:570
Van Esch-O'Driscoll Syndrome	Protruding ear, Downturned corners of mouth, Clinodactyly of the 5th finger, Spina bifida occulta...	OMIM:301030
Limb Body Wall Complex	Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,...	ORPHA:2369
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Microcephaly, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoesoph...	OMIM:619227
Loeys-Dietz Syndrome 4	High, narrow palate, High palate, Broad uvula, Emphysema, Bifid uvula, Joint laxity, Arachnodacty...	OMIM:614816
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Conductive hearing impairment, Spina bifid...	OMIM:150250
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Sandal gap, Malar prominence, Wide mouth, Joint hyperflexibility, Large ea...	ORPHA:2715
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Athyreosis	Macroglossia, Constipation, Abdominal distention, Feeding difficulties	ORPHA:95713
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har...	ORPHA:261537
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Long philtrum, Fused thoracic vert...	ORPHA:97360
Branchiootorenal Syndrome 1	Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont...	OMIM:113650
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia	OMIM:601163
Dravet Syndrome	Pes planus, Impulsivity, Pes valgus, Limited knee extension, Obsessive-compulsive trait, Cyanotic...	ORPHA:33069
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Downturned corners...	ORPHA:453499
Distal Deletion 19P	Low-set, posteriorly rotated ears, Long toe, Arachnodactyly, Hypoplasia of the maxilla, Sensorine...	ORPHA:96129
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Spinocerebellar tract disease in lower limbs, Corpus callosum atrophy, Inc...	OMIM:248500
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Micrognathia, Microcephaly, Sensorineural hearing impairment, ...	ORPHA:1131
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy...	ORPHA:2614
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal thumb, Spin...	OMIM:105650
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har...	ORPHA:2152
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Epiphyseal stippling	OMIM:614870
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Wide nasal br...	ORPHA:710
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Abnormal femur morpholog...	ORPHA:93329
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Ivic Syndrome	Hearing impairment, Joint stiffness, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, H...	ORPHA:2307
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd...	OMIM:123500
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Pneumothorax, Cerebral atrophy, Talipes equinovarus, Short tibia	OMIM:620306
Fanconi Anemia, Complementation Group P	Absent thumb, Micrognathia, Short thumb, Microcephaly, Hypoplasia of the radius, Hearing impairment	OMIM:613951
Caudal Duplication	Spina bifida, Abnormal sacrum morphology, Myelomeningocele, Bifid sacrum, Spinal cord lesion, Ver...	ORPHA:1756
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Meckel Syndrome 12	Agenesis of cerebellar vermis, Rocker bottom foot, Micrognathia, Microcephaly, Antecubital pteryg...	OMIM:616258
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ...	ORPHA:103907
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Protruding ear...	OMIM:613458
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Asymmetry of the ears, Flexion contracture, Wide nas...	OMIM:619124
Arterial Tortuosity Syndrome	Carotid artery dissection, Micrognathia, Flexion contracture, High palate, Bifid uvula, Telangiec...	OMIM:208050
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Postaxial polydactyly, Hypoplasia of the maxilla, Conical tooth, Diastem...	OMIM:619142
Usher Syndrome Type 1	Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea morphology,...	ORPHA:231169
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo...	ORPHA:185
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Kabuki Syndrome	Hemivertebrae, Abnormal form of the vertebral bodies, Protruding ear, Orofacial cleft, High palat...	ORPHA:2322
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac...	OMIM:211380
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atr...	OMIM:613390
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Forearm undergrowth, Vascular di...	OMIM:602200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Diffuse cerebral atrophy, Arachnodactyly, Overlapping toe, Single transvers...	ORPHA:83617
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Respiratory distress, Pulmonary embolism, Feeding difficulties in infancy, Intracr...	ORPHA:3260
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia	OMIM:615415
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Abnormality of the ear, Hypoplastic vertebral bodies, Thin upper lip vermilion, Downt...	ORPHA:3455
Malaria	Respiratory distress	ORPHA:673
Digeorge Syndrome	Micrognathia, High, narrow palate, High palate, Gastroesophageal reflux, Short philtrum, Bifid uv...	OMIM:188400
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Nasogastric tube feeding in infancy, Gastroesophagea...	ORPHA:363611
Opitz Gbbb Syndrome	Micrognathia, Feeding difficulties in infancy, Vertebral segmentation defect, High palate, Agenes...	ORPHA:2745
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Pos...	OMIM:174300
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, High palate, Gastroesophageal reflux, Widely spaced...	OMIM:618268
Fanconi Anemia, Complementation Group B	Death in infancy, Short neck, Absent thumb, Esophageal atresia, Hydrocephalus, Patent ductus arte...	OMIM:300514
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:309583
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death	OMIM:301021
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Microcephaly, Long nose, Patent ...	ORPHA:3047
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Acromesomel...	ORPHA:968
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Tonne-Kalscheuer Syndrome	Pulmonary hypoplasia	OMIM:300978
Igg4-Related Aortitis	Low back pain, Intestinal obstruction, Thoracic aortic aneurysm, Abdominal pain, Asthma, Abnormal...	ORPHA:449400
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Short foot, A...	ORPHA:474
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,...	OMIM:271225
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno...	OMIM:617952
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn...	ORPHA:980
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Widely spaced teeth...	OMIM:601216
Joubert Syndrome With Ocular Defect	Low-set, posteriorly rotated ears, Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megac...	ORPHA:220493
Osteogenesis Imperfecta, Type Xxi	Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platysp...	OMIM:619131
Mowat-Wilson Syndrome	Uplifted earlobe, Large basal ganglia, Vomiting, Widely spaced teeth, Agenesis of corpus callosum...	OMIM:235730
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Gastrointestinal dysmotility, Downturned corners of mouth, Gastr...	ORPHA:466943
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Abdominal pain, Microcephaly, Spinal rigidity, Dyspne...	ORPHA:86812
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin...	OMIM:617602
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Toe syndactyly, 2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Limb under...	OMIM:616809
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Broad metatarsal, Broad skull, ...	OMIM:277600
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short neck, Short metatarsal, High palate, Widely spaced teeth, Clinoda...	OMIM:266920
Fraser Syndrome 2	Intestinal malrotation, Short neck, Abdominal distention, Rectal atresia, Cutaneous syndactyly, R...	OMIM:617666
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Death in infancy	OMIM:300219
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure	ORPHA:83451
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Micrognathia, Malabsorption, Aplasia/H...	ORPHA:1225
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Microcephaly, Atrophy of the spinal cord, Partial agenesis of the corpus callos...	ORPHA:86822
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Atelis Syndrome 2	Pes planus, Sacral dimple, Single transverse palmar crease, Micrognathia, Microcephaly, Kyphosis,...	OMIM:620185
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly,...	OMIM:615108
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Cyanosis, Abnormal coronary artery morphology, Patent du...	ORPHA:860
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Smooth philtrum, Overlapping toe, Abnormality of the dentition, Carious teeth, Dysplastic corpus ...	ORPHA:363444
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	OMIM:263210
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Kyphosis,...	ORPHA:392
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Cyanosis, Short lingual frenulum, Anomalous origin of left coronary artery from the p...	ORPHA:2326
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har...	ORPHA:261552
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abnormal vascular morphology, Abd...	ORPHA:1201
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hemivertebrae, Femoral bowing, Anteriorly placed anus, Conductive hearing impairment, Simple ear,...	OMIM:201750
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bron...	OMIM:620233
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
3Mc Syndrome 2	Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Cleft upper lip, Hip disl...	OMIM:265050
Coxoauricular Syndrome	Abnormal femur morphology, Micromelia	ORPHA:1508
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Arachnodactyl...	ORPHA:91387
Alg9-Cdg	Villous atrophy, Micrognathia, Short neck, Large fleshy ears, Narrow greater sciatic notch, Vomit...	ORPHA:79328
Episodic Ataxia Type 1	Respiratory distress, Kyphoscoliosis, Vertigo, Calf muscle hypertrophy, Scoliosis, Hand clenching...	ORPHA:37612
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:618316
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Respiratory insufficiency, Bilateral...	OMIM:601186
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Pa...	OMIM:618300
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Microcephaly, Absent thumb, Submucous cleft hard palate, Feeding difficulties, Bif...	OMIM:619239
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Gastroesophageal re...	OMIM:134780
Pachyonychia Congenita	Respiratory distress, Natal tooth, Angular cheilitis, Palmoplantar blistering, Ear pain, Feeding ...	ORPHA:2309
Maternal Phenylketonuria	Hyperactivity, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, Microcephaly,...	ORPHA:2209
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly,...	OMIM:615109
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Pulmonary hypop...	ORPHA:96179
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ...	ORPHA:280
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Short finger	OMIM:242500
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Short ribs, Limb undergrowth, Coarse metaphyseal trabeculari...	OMIM:618961
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Esophageal atres...	OMIM:192350
Greenberg Dysplasia	Brachydactyly, Rhizomelia, Micromelia, Micrognathia	ORPHA:1426
Williams Syndrome	Osteopenia, Abnormal cerebral vascular morphology, Micrognathia, Rectal prolapse, Abnormal form o...	ORPHA:904
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Hypoplasia of the maxilla, Carious teeth, Posterior wedgin...	ORPHA:50814
Loeys-Dietz Syndrome 2	Micrognathia, Descending thoracic aorta aneurysm, Dilatation of mesenteric artery, Bifid uvula, A...	OMIM:610168
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Fetal Akinesia Deformation Sequence	Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:994
1P36 Deletion Syndrome	Feeding difficulties in infancy, Gastroesophageal reflux, Conductive hearing impairment, Clinodac...	ORPHA:1606
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Arachnodactyly, Micrognathia, Narrow mouth, Sensorineural hearing i...	OMIM:618971
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Carious teeth, Feeding difficulties in infancy, Pate...	ORPHA:1051
Buerger Disease	Acrocyanosis	ORPHA:36258
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Feeding difficulties in infancy, Abnormal ...	ORPHA:818
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Short neck, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip a...	ORPHA:2001
Cloacal Exstrophy	Intestinal malrotation, Spina bifida, Abnormal tibia morphology, Myelomeningocele, Hemivertebrae,...	ORPHA:93929
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Aplasia/Hypoplasia of the tibia, Meningocele, Upper airway obstr...	ORPHA:1827
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Meacham Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve...	OMIM:608978
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Abdominal distention, Osteoporosis	ORPHA:369
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno...	ORPHA:555874
Primary Effusion Lymphoma	Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:48686
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Absent or minimally ossified vertebral bodies, Short palm, Agenesis of ...	ORPHA:93271
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydac...	OMIM:258850
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High...	OMIM:617402
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, High, narrow palate, Gastroesophageal reflux, Increased head circumference, Shor...	OMIM:300967
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Micrognathia, Short neck, Esophageal atresia, Absent thumb, Absent radius, Hy...	OMIM:614083
Farber Disease	Respiratory distress, Abnormality of the knee, CNS foam cells, Abnormality of the hand, Abnormal ...	ORPHA:333
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Bilateral single transverse palmar creases, Micromelia, S...	ORPHA:50810
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Holoprosencephaly 9	Hypoplasia of the maxilla, Partial agenesis of the corpus callosum, Short philtrum, Holoprosencep...	OMIM:610829
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections	ORPHA:1548
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Coarctation of aorta, Bi...	ORPHA:268249
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Feeding difficulties, Platyspondyly, Th...	OMIM:619638
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Protruding ear,...	OMIM:612474
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu...	ORPHA:141127
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ...	OMIM:136140
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Pulmonary hypoplasia	OMIM:314390
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin...	ORPHA:881
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Micrognathia, Microcephaly, Trismus, Brachioradialis areflexia,...	OMIM:616271
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Niemann-Pick Disease, Type A	Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Feeding difficulties in infanc...	OMIM:257200
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress, Dysphagia	ORPHA:240103
Celiac Disease, Susceptibility To, 1	Cerebral calcification, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Osteoporo...	OMIM:212750
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly,...	OMIM:158350
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Hyperactivity, Broad hallux, Optic nerve hypoplasia, Postaxial polydacty...	ORPHA:457284
Pulmonary Hypertension, Primary, 1	Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar...	OMIM:178600
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Gastroesophageal reflux, Bifid uvula, Long philtrum, Joint laxity, Wide ...	OMIM:607812
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, H...	ORPHA:206436
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Peripheral Primitive Neuroectodermal Tumor	Back pain, Abnormal thoracic spine morphology, Nausea and vomiting, Anorexia, Abdominal distentio...	ORPHA:370348
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Cerebral calcificati...	ORPHA:46059
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Restlessness, Dilation of Virchow-Robin spaces, Single transverse palmar cr...	OMIM:615273
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Pyloric s...	ORPHA:3138
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:1046
Nemaline Myopathy 10	Respiratory insufficiency due to muscle weakness, Death in infancy, Neonatal death	OMIM:616165
Gaucher Disease, Type Ii	Death in infancy, Apnea, Cough, Trismus, Cerebral atrophy, Feeding difficulties, Stridor, Gastroe...	OMIM:230900
Perlman Syndrome	Distal ileal atresia, Tented upper lip vermilion, Everted upper lip vermilion, Micrognathia, Wide...	OMIM:267000
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Aspartylglucosaminuria	Mandibular prognathia, Anterior beaking of lumbar vertebrae, Chronic otitis media, Abnormal verte...	ORPHA:93
Dyskeratosis Congenita	Esophageal stenosis, Cerebral calcification, Recurrent fractures, Hearing impairment, Malabsorpti...	ORPHA:1775
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Pseudohypoparathyroidism Type 1A	Abdominal symptom, Cerebral calcification, Short neck, Basal ganglia calcification, Short metatar...	ORPHA:79443
Rhizomelic Chondrodysplasia Punctata	Limb undergrowth, Abnormal metaphysis morphology, Rhizomelia	ORPHA:177
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:616866
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Posteriorly rotated ears, Microcephaly, Cleft upper lip, Postaxi...	OMIM:264480
Birk-Barel Syndrome	Microretrognathia, Reduced subcutaneous adipose tissue, Sacral dimple, Tented upper lip vermilion...	OMIM:612292
Tularemia	Respiratory distress, Pneumonia, Oral ulcer, Otitis media, Cough, Pleural effusion	ORPHA:3392
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Ovoid vertebral bodies, Anterior rib cupping...	OMIM:260400
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Short neck, Lobulated tongue, Agenesis of corpus callosum,...	OMIM:249000
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Feeding difficulties in infancy, Abnormal internal carotid artery morpholog...	ORPHA:365
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Apnea, Venous insufficiency, Osteoarthritis, Gastrointestinal dysmotility, Abn...	ORPHA:285
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ...	ORPHA:69085
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla...	ORPHA:2673
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Neuroocular Syndrome	Hyperextensibility of the finger joints, Genu recurvatum, Downturned corners of mouth, Widely spa...	OMIM:619539
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Short philtrum, Holoprosencephaly, Clinod...	ORPHA:1449
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Osteoarthritis, Generalized joint laxity,...	ORPHA:287
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Feeding difficulties in infancy, Micromeli...	ORPHA:199
Immunoneurologic Disorder, X-Linked	Neonatal death	OMIM:300076
Serkal Syndrome	Pulmonary hypoplasia	ORPHA:139466
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Proteasome-Associated Autoinflammatory Syndrome 1	Basal ganglia calcification, Flexion contracture, Premature graying of hair, Finger swelling, Par...	OMIM:256040
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Toe syndactyly, Pulmonary artery stenosis, Hypoplasia of the radius, Wi...	ORPHA:140952
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Aqueductal stenosis, Protruding ear, Knee dislocation, Gastroesophageal reflux, Neona...	OMIM:619534
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Abdominal distention, Gastrointestinal dysmotility, Dia...	ORPHA:90051
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Micrognathia, Feeding difficulties in infancy, Pro...	OMIM:147920
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul...	OMIM:611812
Hypertrichosis Cubiti	Rhizomelia, Micromelia	ORPHA:2220
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Clinodactyly of the 5th finger, Abnormal metaphysis morpholo...	ORPHA:2635
Congenital Fibrinogen Deficiency	Cyanosis, Abdominal pain, Clubbing of fingers, Gingival bleeding, Volvulus, Bruising susceptibili...	ORPHA:335
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Abdominal distention, Rickets, Hepatic failure	ORPHA:2088
Ciliary Dyskinesia, Primary, 37	Hearing impairment, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinitis, Rhinorrhea	OMIM:617577
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Poor appetite, Microcephaly, Reye syndrome-like episodes, Diarrhea, Feeding...	ORPHA:927
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Structural foot deformity, Decreased skull...	ORPHA:1662
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Knee flexion co...	OMIM:618733
Sirenomelia	Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o...	ORPHA:3169
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Sensorineural hearing impairment, Lobar holoprosencephaly...	OMIM:618500
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Pes planus, Hyperactivity, Megalencephaly, Asthma, Wide mouth, Long philtrum...	ORPHA:457485
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge...	OMIM:601499
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi...	ORPHA:99106
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Celiac disease, Sensorin...	ORPHA:293987
Hardikar Syndrome	Vomiting, Cleft soft palate, Thoracolumbar scoliosis, Abdominal pain, Vertigo, Patent ductus arte...	OMIM:301068
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Joint stiffness, Genu valgum, Hypoplasia of the zygomati...	ORPHA:1295
Angelman Syndrome	Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Feeding diffi...	OMIM:105830
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Cerebral calcification, Pneumonia, Bowing of th...	ORPHA:1855
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Low-set, posteriorly rotated ears, Apnea, Aplasia/Hypoplasia of the cerebel...	ORPHA:1052
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Progressive hear...	OMIM:620166
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Sensorineural hearing impairment, Increased susceptibility to fr...	OMIM:615066
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Protein-losing enteropathy, Vomiting, Cough, Joint laxity, Paten...	OMIM:619991
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Neuronal loss in basal ganglia, Cerebral atrophy, Feeding...	OMIM:604377
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Micrognathia, Rectal fistula, Absent radius, Patent ductus...	OMIM:115470
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Micrognathia, Abnormality of the ear, Agenesis of corpus callosum, Abnormal...	ORPHA:2556
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Cerebellar vermis hypoplasia, Short neck, Protruding ear, High palate, Abn...	OMIM:620330
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Feeding difficulties in infancy, Wi...	ORPHA:116
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Malabsorption, Diarrhea, Tympanosclerosis, Enamel hypoplasia	OMIM:240300
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl...	OMIM:613177
Wolman Disease	Nausea and vomiting, Bone-marrow foam cells, Abdominal distention, Malnutrition, Esophageal varix...	ORPHA:75233
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Aggres...	ORPHA:2131
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome...	OMIM:609616
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Renal arter...	OMIM:162200
Coccidioidomycosis	Respiratory distress, Osteomyelitis, Pneumonia, Cough, Broad skull, Hydrocephalus, Vasculitis, Os...	ORPHA:228123
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Tented ...	OMIM:601803
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Hypoventilation, Breathing dysregulation	OMIM:618232
Pancreatic Agenesis-Holoprosencephaly Syndrome	Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, Hypoxemia, Hypoplasi...	ORPHA:556955
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia	ORPHA:250999
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, A...	ORPHA:1101
Combined Oxidative Phosphorylation Deficiency 53	Death in infancy, Osteomyelitis, Abdominal distention, Dysplastic corpus callosum, Arthritis, Sec...	OMIM:619423
Multiple Pterygium Syndrome, X-Linked	Pulmonary hypoplasia	OMIM:312150
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence	OMIM:179270
Fanconi Anemia, Complementation Group W	Microcephaly, Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology, Abnormal pe...	OMIM:617784
Hartsfield Syndrome	Syndactyly, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Microcephaly, Alobar ho...	OMIM:615465
Axenfeld-Rieger Syndrome	Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Everted lower lip vermilion, Hypodon...	ORPHA:782
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Anterior Cutaneous Nerve Entrapment Syndrome	Back pain, Anorexia, Abdominal pain, Abdominal distention, Vertigo, Recurrent infection of the ga...	ORPHA:51890
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum	OMIM:619073
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Xerostomia, Ectoder...	OMIM:129900
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Optic nerve hypoplasia, Aorto...	OMIM:620025
Tetanus	Respiratory distress, Stiff neck, Bowel incontinence, Abdominal pain, Trismus, Tachypnea, Dysphagia	ORPHA:3299
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Intestinal malrotation, Hypoplasia of the prema...	ORPHA:2166
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention...	ORPHA:92050
Marfan Syndrome	Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Emphysema...	ORPHA:558
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Brachydactyly	ORPHA:2145
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Genu valgum	ORPHA:1035
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Abdominal aortic aneurysm, Joint l...	ORPHA:284984
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Malignant Peritoneal Mesothelioma	Abdominal pain, Dyspnea, Abdominal distention, Ileus, Pedal edema	ORPHA:168811
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Microcephaly, Pulmonary embolism, Atrophy of the spinal cord, Hydrocephalus...	ORPHA:79282
Pediatric Systemic Lupus Erythematosus	Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Arthritis, Vomiting, Pleural...	ORPHA:93552
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Re...	OMIM:609465
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp...	OMIM:220110
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo...	ORPHA:1842
Meester-Loeys Syndrome	Joint dislocation, High palate, Joint contracture, Bifid uvula, Arachnodactyly, Poor wound healin...	OMIM:300989
Peroxisome Biogenesis Disorder 1A (Zellweger)	Death in childhood, Neonatal respiratory distress, Pulmonary hypoplasia, Prolonged neonatal jaundice	OMIM:214100
Acute Intermittent Porphyria	Back pain, Nausea and vomiting, Proximal muscle weakness in upper limbs, Restlessness, Abdominal ...	ORPHA:79276
Multiple Pterygium Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:253290
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Respiratory distress, Autoamputation of digits, Reye syndrome-like episode...	OMIM:256810
Achondrogenesis Type 1B	Short foot, Talipes equinovarus, Micromelia, Micrognathia	ORPHA:93298
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, D...	ORPHA:93958
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Malar f...	OMIM:241310
Truncus Arteriosus	Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi...	ORPHA:3384
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Metaphyseal widening, Short finger, Mesomelia, Broad thumb, Brachydactyly	OMIM:612813
Isolated Atp Synthase Deficiency	Respiratory distress, Sensorineural hearing impairment, Cerebral cortical atrophy, Microcephaly	ORPHA:254913
Japanese Encephalitis	Respiratory distress, Stiff neck, Genu recurvatum, Anorexia, Abnormal caudate nucleus morphology,...	ORPHA:79139
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven...	OMIM:233450
Phakomatosis Pigmentokeratotica	Hypophosphatemic rickets, Hemiatrophy, Spina bifida, Scoliosis	ORPHA:2874
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal parotid gland morph...	OMIM:154500
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ...	ORPHA:85167
Genitopatellar Syndrome	Apnea, Pulmonary hypoplasia	ORPHA:85201
Marden-Walker Syndrome	Pulmonary hypoplasia	OMIM:248700
Ablepharon Macrostomia Syndrome	Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Excessive wrinkle...	ORPHA:920
Matthew-Wood Syndrome	Abnormal lung morphology, Pulmonary hypoplasia	ORPHA:2470
Al Amyloidosis	Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X...	ORPHA:85443
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, H...	OMIM:610828
Otosclerosis 10	Otosclerosis	OMIM:615589
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Microcephaly, Postaxial hand polydactyly, Patent ductus arteriosus, Abnorma...	ORPHA:2519
Epidermolysis Bullosa Simplex With Pyloric Atresia	Oral mucosal blisters, Abdominal distention, Flexion contracture, Congenital pyloric atresia, Mic...	ORPHA:158684
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching, Microcephaly	OMIM:107500
Aicardi-Goutieres Syndrome 1	Intracerebral periventricular calcifications, Petechiae, Microcephaly, Feeding difficulties in in...	OMIM:225750
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Abnormal rib morphology, R...	ORPHA:93317
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Transient ischemic attac...	ORPHA:183
Split Cord Malformation	Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Abnor...	ORPHA:573278
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death	OMIM:619602
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Hypoplastic sacrum, Absence of Stensen duct, Toe syndactyly, Selective tooth agene...	OMIM:604292
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Joubert Syndrome 21	Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis	OMIM:615636
Moderate Hemophilia A	Gastrointestinal hemorrhage, Hip contracture, Arthropathy, Epidural hemorrhage, Cartilage destruc...	ORPHA:169805
Cardioacrofacial Dysplasia 2	Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ...	OMIM:619143
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Cerebral calcification, Absent septum pellucidum, Abnormal cartilage m...	ORPHA:2396
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Abdominal distention, Ve...	ORPHA:97214
Autosomal Dominant Cutis Laxa	Osteopenia, Genu recurvatum, Talipes calcaneovalgus, Protruding ear, Abnormal curvature of the ve...	ORPHA:90348
Leprechaunism	Reduced subcutaneous adipose tissue, Microcephaly, Abdominal distention, Rectal prolapse, Protrud...	ORPHA:508
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Microcephaly, Feeding difficulties in infancy, Sensorineural h...	OMIM:252010
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Respiratory insufficiency ...	ORPHA:2905
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delaye...	ORPHA:1652
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Abdominal distention, Hemivertebrae,...	OMIM:271520
Noonan Syndrome 1	Brachydactyly, Kyphoscoliosis, Micrognathia, Short neck, High, narrow palate, Sensorineural heari...	OMIM:163950
Chromosome 1Q41-Q42 Deletion Syndrome	Pulmonary hypoplasia	OMIM:612530
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Abdomi...	OMIM:613795
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Abnormal tibia morphology, Protruding ear, High palate, Abnormal dental ...	ORPHA:363700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia	OMIM:263200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Feeding difficulties, Stroke	ORPHA:79312
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Stroke-like episod...	OMIM:619272
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Small hand, Short foot, Short palm	ORPHA:238750
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Brachydactyly, Rhizomelia, Broad thumb, Mesomelia	ORPHA:171866
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly...	ORPHA:160148
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Hypoplasia of the maxilla, Sensorineural hearing impairment, Malar f...	OMIM:122880
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Patent ductus arteriosus, Split hand, Clubbing, Absent pulmonary artery, Cleft p...	OMIM:600460
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Bone-marrow foam cells, Abdominal pain, Prec...	ORPHA:275761
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia...	OMIM:192445
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella...	ORPHA:221008
Congenital Myopathy 17	Respiratory tract infection, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:618975
Teebi Hypertelorism Syndrome 1	Pulmonary hypoplasia	OMIM:145420
C Syndrome	Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Ulnar dev...	OMIM:211750
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Dental crowding, Ankle flexion contracture, Poor wound healing, Erythem...	OMIM:618175
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Clinodactyly of the 5th finger, Taper...	OMIM:609638
Liver Failure, Infantile, Transient	Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, J...	OMIM:613070
Sotos Syndrome	Cerebellar vermis hypoplasia, No permanent dentition, Flexion contracture, Pedal edema, Gastroeso...	ORPHA:821
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Hyperactivity, Microcephaly, Abnormal eating...	ORPHA:209905
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention, Jaundice, Hypoplasia of the corpus callosum, Thi...	OMIM:618528
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Ileal atresia, Abdo...	OMIM:619351
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b...	ORPHA:221016
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern...	ORPHA:63260
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Intermittent jaundice...	ORPHA:100085
Wilson Disease	Acute hepatic failure, Osteomalacia, Abdominal distention, Osteoarthritis, Jaundice, Esophageal v...	OMIM:277900
Ethylene Glycol Poisoning	Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema	ORPHA:31826
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Lumbar hyperlordosis, Cerebral calcification, Short neck, Joint stiffness, ...	ORPHA:505248
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:614091
Stt3B-Cdg	Respiratory distress	ORPHA:370924
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Abnormal internal carotid artery morphology, Cerebral artery sten...	ORPHA:97685
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Intestinal malrotation, Cleft soft palate, Microcephaly, Hydrocephalus, F...	OMIM:619321
Meckel Syndrome, Type 6	Bilobed right lung, Pulmonary hypoplasia	OMIM:612284
Alkaptonuria	Joint dislocation, Coronary artery calcification, Joint stiffness, Cartilage destruction, Hearing...	ORPHA:56
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Sandal gap, Micromelia, Short neck, Single transverse palmar crease, Th...	OMIM:614800
Nephrotic Syndrome, Type 1	Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention	OMIM:256300
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Microcephaly, Cortical dysplasi...	ORPHA:268943
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema	OMIM:617300
Caudal Regression Syndrome	Pulmonary hypoplasia	ORPHA:3027
Cholesteryl Ester Storage Disease	Acute hepatic failure, Death in infancy, Bone-marrow foam cells, Hepatic foam cells, Diarrhea, Es...	OMIM:278000
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Sandal gap, Macrodactyly, Lower limb asymmetry, Cranial hyperostosis, Spinal dysra...	OMIM:612918
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis	OMIM:619708
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Microcephaly, Patent ductus arteriosus, Hypoplasia of the radius, Ap...	OMIM:617247
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho...	ORPHA:100050
Loeys-Dietz Syndrome	Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Microgn...	ORPHA:60030
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Microcephaly, Feeding difficulties in infancy, Submucous cleft hard palate, Flexion contracture, ...	OMIM:618891
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea	ORPHA:26793
Autosomal Recessive Multiple Pterygium Syndrome	Neonatal respiratory distress, Pulmonary hypoplasia	ORPHA:2990
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Achondrogenesis	Micromelia, Micrognathia	ORPHA:932
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Loeys-Dietz Syndrome 1	Micrognathia, Descending thoracic aorta aneurysm, Bifid uvula, Joint laxity, Arachnodactyly, Eosi...	OMIM:609192
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Bilateral sensorineural hearing impairment...	ORPHA:309256
Microphthalmia, Syndromic 6	Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Cli...	OMIM:607932
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Small hand, Clinodactyl...	ORPHA:3121
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonary hypoplasia	OMIM:619148
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal fingertip morphology, Abnormal ...	ORPHA:79404
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema	OMIM:261740
Currarino Syndrome	Absence of the sacrum, Anal stenosis, Hemisacrum, Tethered cord, Perianal abscess, Gastrointestin...	OMIM:176450
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Limitation of join...	ORPHA:343
Double Outlet Left Ventricle	Pulmonary artery stenosis, Cyanosis, Tachypnea	ORPHA:3427
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Esophageal atresia, Short thumb, Preaxial hand polydactyly, Partial ...	OMIM:227646
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Rickets, Osteomalacia, Bowing of the legs	ORPHA:89937
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Right aortic arch with mirror image branching	OMIM:606217
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs	ORPHA:1027
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Abdominal pain, Abnormality of the low...	ORPHA:36234
Aicardi-Goutières Syndrome	Cerebral calcification, Multiple joint contractures, Cutis marmorata, Microcephaly, Porencephalic...	ORPHA:51
Lymphatic Malformation 12	Neonatal death, Neonatal respiratory distress, Death in adolescence	OMIM:620014
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Epistaxis, Carious teeth, Diarrhea, Osteoporosis, Enterocolitis, Gout, Increased susc...	ORPHA:79259
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency	ORPHA:367
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Bilateral sensorineural hearing impairment, Punctate periventricular T2 hyp...	ORPHA:309263
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth...	OMIM:305100
Ovarian Fibroma	Abdominal distention, Pleural effusion, Odontogenic keratocysts of the jaw, Abdominal pain	ORPHA:314473
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Erythema, Pulmonary hypoplasia	OMIM:308050
Listeriosis	Back pain, Respiratory distress, Stiff neck, Osteomyelitis, Miscarriage, Pneumonia, Abdominal pai...	ORPHA:533
Glutamine Deficiency, Congenital	Neonatal death, Neonatal respiratory distress, Apnea, Camptodactyly	OMIM:610015
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Microcephaly, Meningocele, Abnormal rib morphology...	ORPHA:991
Acrocephalopolydactylous Dysplasia	Pulmonary hypoplasia, Extrapulmonary sequestrum	OMIM:200995
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Necrotizing Enterocolitis	Apnea, Abdominal distention, Diarrhea, Bloody diarrhea, Vomiting	ORPHA:391673
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous...	OMIM:616749
Thauvin-Robinet-Faivre Syndrome	Pes planus, Long foot, Bowing of the legs, Sensorineural hearing impairment, Pedal edema, Protrud...	OMIM:617107
Ogden Syndrome	Prematurely aged appearance, Apnea, Facial wrinkling, Jaundice, Pulmonary artery stenosis, Pulmon...	OMIM:300855
Pmm2-Cdg	Osteopenia, Mandibular prognathia, Respiratory distress, Multiple joint contractures, Cerebellar ...	ORPHA:79318
Ablepharon-Macrostomia Syndrome	Short metacarpal, Microtia, third degree, Toe syndactyly, Microtia, first degree, Anteriorly plac...	OMIM:200110
Fucosidosis	Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebrae, Acrocyanosis, Vascu...	ORPHA:349
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain	ORPHA:168829
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ...	ORPHA:1876
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Bilateral sensorineural hearing impairment, Bowel incontinence, Punctate pe...	ORPHA:309271
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra...	OMIM:612852
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia	ORPHA:2772
Isolated Arrhinia	Respiratory distress, Hypoplasia of the nasal bone, Absent nasal septal cartilage, Microtia, Apla...	ORPHA:1134
Hall-Riggs Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Brachydactyly	ORPHA:2107
Oligomeganephronia	Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Renal-Hepatic-Pancreatic Dysplasia 1	Neonatal death, Pulmonary hypoplasia	OMIM:208540
Castleman Disease	Myelofibrosis, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention,...	ORPHA:160
Thanatophoric Dysplasia Type 2	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:93274
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
X-Linked Acrogigantism	Diastema, Abdominal distention, Large hands, Long foot, Polyphagia	ORPHA:300373
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:615503
Thyroid Hypoplasia	Macroglossia, Jaundice, Constipation, Abdominal distention	ORPHA:95720
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Micromelia, Micrognathia, Metaphyseal widening, Advanced ossification o...	OMIM:224400
Polyembryoma	Abdominal distention, Abnormal sacrum morphology, Abdominal pain	ORPHA:180229
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment	OMIM:251800
Afibrinogenemia, Congenital	Death in infancy, Epistaxis, Death in adolescence, Death in childhood, Neonatal death	OMIM:202400
Dpm1-Cdg	Sandal gap, Micrognathia, Camptodactyly, Limb undergrowth, Long hallux	ORPHA:79322
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Monkey wrench femoral neck, Micromelia, 2-3 toe syndactyly, Clinodactyly of th...	OMIM:618870
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Osteomalacia, Poor appetite, Malabsorption, Abdominal disten...	OMIM:227810
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth	ORPHA:79243
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy	OMIM:613730
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Myasthenia Gravis	Dyspnea, Rheumatoid arthritis, Dysphagia, Acrocyanosis, Hearing impairment	ORPHA:589
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Pte...	ORPHA:79403
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology	ORPHA:2570
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Myotonic Dystrophy 1	Respiratory distress, Feeding difficulties in infancy, Cerebral atrophy, Dysphagia, Obsessive-com...	OMIM:160900
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea, Pulmonary edema	OMIM:115197
Peritoneal Cystic Mesothelioma	Abdominal distention, Constipation, Abdominal pain	ORPHA:168816
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Pulmonary hypoplasia	OMIM:614080
Letterer-Siwe Disease	Dyspnea, Abdominal distention, Jaundice, Stomatitis	OMIM:246400
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Short distal phalanx of finger, Broad thumb, Brachydactyly	ORPHA:1784
Cocaine Intoxication	Respiratory distress, Cerebral hemorrhage, Abdominal pain, Intestinal perforation, Subarachnoid h...	ORPHA:90068
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m...	ORPHA:1416
Ovarian Fibrothecoma	Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:314478
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption	ORPHA:71
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosis, Purpura	ORPHA:319213
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Hydrocephalus, Osteolysis, Vomiting, Cou...	ORPHA:1546
Renal Agenesis, Bilateral	Pulmonary hypoplasia	ORPHA:1848
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Erythema, Res...	ORPHA:537
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Patent ductus arteriosus, Overriding aorta, Vascular ring	OMIM:601927
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality o...	ORPHA:286
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Jaundice, Esophageal varix, Pulmonary arterial hyperte...	OMIM:215600
Multiple Endocrine Neoplasia Type 2	Joint laxity, Reduced subcutaneous adipose tissue, Aganglionic megacolon, Kyphoscoliosis, Hyperlo...	ORPHA:653
Pentalogy Of Cantrell	Pulmonary hypoplasia	ORPHA:1335
Becker Nevus Syndrome	Abnormal tibia morphology, Micromelia	ORPHA:64755
Primary Biliary Cholangitis	Celiac disease, Abdominal distention, Jaundice, Osteoporosis, Gastrointestinal inflammation, Derm...	ORPHA:186
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Vomiting, Nausea, Abdominal pain	ORPHA:90003
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Coarctation of aorta	OMIM:140850
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Mesomelia	OMIM:616229
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu...	ORPHA:731
Primary Dystonia, Dyt4 Type	Respiratory distress, Kyphoscoliosis, Dysphagia, Movement abnormality of the tongue, Open mouth	ORPHA:98805
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Microcephalic Primordial Dwarfism, Dauber Type	Clinodactyly of the 5th finger, Limb undergrowth, Abnormal carpal morphology, Short middle phalan...	ORPHA:319675
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, ...	ORPHA:3016
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Cerebral white matter atrophy, Hypoperistalsis	OMIM:619365
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide distal femoral metaphysis, Metaphyseal cupping, Short ribs, Micromelia	OMIM:613320
Histiocytoid Cardiomyopathy	Cyanosis, Hydrocephalus, Tachypnea, Cleft palate, Stroke-like episode, Vomiting, Cough, Agenesis ...	ORPHA:137675
Q Fever	Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Cough, Pleural effus...	ORPHA:781
Sacral Defect With Anterior Meningocele	Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Tethered cord, Myelomeningocele, Hydr...	OMIM:600145
Hereditary Spherocytosis	Abdominal distention, Jaundice, Gout, Abdominal pain	ORPHA:822
Thoracoabdominal Syndrome	Pulmonary hypoplasia	OMIM:313850
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Reduced bone mineral density, Long fibula, Biparietal narro...	ORPHA:935
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Aortic Aneurysm, Familial Thoracic 10	Joint laxity, Aortic arch aneurysm, Thoracic aortic aneurysm, Dental crowding, Fusiform ascending...	OMIM:617168
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis	OMIM:223900
Adult-Onset Still Disease	Abdominal pain, Cartilage destruction, Erythema, Arthritis, Joint swelling, Restrictive ventilato...	ORPHA:829
Fryns Syndrome	Chylothorax, Stillbirth, Pulmonary hypoplasia	OMIM:229850
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum...	ORPHA:31204
Aorta Coarctation	Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of...	ORPHA:1457
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Tibial Hemimelia	Absent tibia	OMIM:275220
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death	OMIM:602199
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Tetraploidy	Aplasia/Hypoplasia of the lungs	ORPHA:3305
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Lethal Congenital Contracture Syndrome 9	Pulmonary hypoplasia, Cardiorespiratory arrest	OMIM:616503
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or...	ORPHA:95455
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation, Myelopathy, Sensorineural hearing impairment, Hear...	ORPHA:79241
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short metacarpal, Micrognathia, Hypoplasia of the odontoid process, Enlarged metaphyses, Preaxial...	ORPHA:508533
Plague	Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Abnormality o...	ORPHA:707
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Constipation, Vomiting, Chronic hepatic...	ORPHA:469
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ...	OMIM:614748
Dermatomyositis	Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters...	ORPHA:221
Gitelman Syndrome	Nausea and vomiting, Respiratory distress, Cerebral calcification, Salt craving, Abdominal pain, ...	ORPHA:358
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Pulmonary hypoplasia	OMIM:616546
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology	ORPHA:1455
Microvillus Inclusion Disease	Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Osteomyelitis, Gastritis, Pneumonia, Malabsorption, Ileus, Secretory diarrh...	ORPHA:37042
Tracheobronchopathia Osteochondroplastica	Pneumonia, Productive cough, Wheezing, Recurrent pneumonia, Upper airway obstruction, Respiratory...	ORPHA:3348
Gm1 Gangliosidosis	Camptodactyly of finger, Abnormal diaphysis morphology, Limb undergrowth, Abnormal metaphysis mor...	ORPHA:354
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Patent ductus arteriosus, Tr...	ORPHA:210122
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X...	ORPHA:238468
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Colitis, Ste...	ORPHA:309031
Mirizzi Syndrome	Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Nausea	ORPHA:521219
Holoprosencephaly 2	Aplasia of the premaxilla, Microcephaly, Alobar holoprosencephaly, Submucous cleft hard palate, A...	OMIM:157170
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Short phalanx of finger, Micromelia	ORPHA:1422
Prune Belly Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections	ORPHA:2970
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea	ORPHA:64739
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Jaundice	OMIM:617156
Congenital Heart Defects, Multiple Types, 6	Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v...	OMIM:613854
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ...	OMIM:271510
Gm1-Gangliosidosis, Type Ii	Hypoplastic vertebral bodies, Limb undergrowth, Coxa valga	OMIM:230600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent...	ORPHA:2241
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death	OMIM:619817
Familial Dysautonomia	Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology	ORPHA:1764
Campomelia, Cumming Type	Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly	ORPHA:1318
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Limb undergrowth, Short toe, Short phalanx of finger, Micrognathia	OMIM:225410
Kasabach-Merritt Syndrome	Respiratory distress, Abdominal pain, Abdominal distention, Abnormal lymphatic vessel morphology,...	ORPHA:2330
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intestinal malrotation, Patent ductus arteriosus, Pulmonary artery stenosis...	ORPHA:2255
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Heterotaxy, Visceral, 4, Autosomal	Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with...	OMIM:613751
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia	OMIM:273395
Alström Syndrome	Respiratory distress, Abnormality of dental color, Thoracic scoliosis, Gingivitis, Gastroesophage...	ORPHA:64
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Intermittent jaundice, Episodic abdominal pain, Nausea	ORPHA:100086
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Dysphagia, Focal...	ORPHA:255210
Thyroid Ectopia	Abdominal distention, Jaundice, Macroglossia, Constipation, Umbilical hernia	ORPHA:95712
Fetal Akinesia Deformation Sequence 1	Stillbirth, Pulmonary hypoplasia	OMIM:208150
Lumbar Syndrome	Myelomeningocele, Ectopic anus, Spina bifida, Anal atresia	ORPHA:83628
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal...	OMIM:618780
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, 2-3 toe syndactyly, Mesomelia, Clinodactyly of the 5th finger, Metaphyseal irregulari...	OMIM:618162
Cardiac-Urogenital Syndrome	Intestinal malrotation, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Wide...	OMIM:618280
Mckusick-Kaufman Syndrome	Pulmonary hypoplasia	OMIM:236700
Tuberous Sclerosis Complex	Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha...	ORPHA:805
Geleophysic Dysplasia 3	Limb undergrowth, Short foot, Brachydactyly	OMIM:617809
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia	ORPHA:1112
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation, Umbil...	OMIM:218700
Glycogen Storage Disease Ib	Osteoporosis, Oral ulcer, Gout, Inflammation of the large intestine, Protuberant abdomen	OMIM:232220
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Sponastrime Dysplasia	Rhizomelia, Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, ...	ORPHA:93357
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention, Microcolon	OMIM:619362
Dpagt1-Cdg	Pulmonary hypoplasia	ORPHA:86309
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Clinodactyly	ORPHA:488632
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Primary Hyperoxaluria	Cutis marmorata, Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, R...	ORPHA:416
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Hypoplasia of the olfactory bulb, Failure of eruption ...	ORPHA:2250
Infantile Systemic Hyalinosis	Brachydactyly, Camptodactyly of finger, Micromelia, Short palm	ORPHA:2176
Fraser Syndrome	Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2052
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal lung lobation	ORPHA:3301
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Hypoplastic aortic arch	ORPHA:2248
Heart Defects, Congenital, And Other Congenital Anomalies	Intestinal malrotation, Microcephaly, Patent ductus arteriosus, Pulmonary artery stenosis, Cervic...	OMIM:600001
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly	OMIM:616541
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Gast...	ORPHA:48435
Reactive Arthritis	Osteomyelitis, Joint stiffness, Cartilage destruction, Abdominal pain, Diarrhea, Respiratory insu...	ORPHA:29207
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs...	ORPHA:436252
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Axial Mesodermal Dysplasia Spectrum	Aplasia/Hypoplasia of the lungs	ORPHA:1834
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Clinodactyly of the 5th finger, Abnormal metaphysis morphology, Brachydactyly	ORPHA:2637
Glycogen Storage Disease Ia	Intermittent diarrhea, Protuberant abdomen, Osteoporosis, Gout	OMIM:232200
Heterotaxy, Visceral, 6, Autosomal	Right aortic arch, Double outlet right ventricle, Total anomalous pulmonary venous return, Transp...	OMIM:614779
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Fraser Syndrome 1	Pulmonary hypoplasia	OMIM:219000
Penile Agenesis	Bilateral lung agenesis, Pulmonary hypoplasia	ORPHA:49
Exstrophy-Epispadias Complex	Anal stenosis, Spina bifida, Microcephaly, Hydrocephalus, Abnormal joint morphology, Anal atresia	ORPHA:322
Norrie Disease	Microcephaly, Venous insufficiency, Sensorineural hearing impairment, Protruding ear, Abnormal co...	ORPHA:649
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Limb undergrowth	OMIM:618005
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Mesomelia, Clinodactyly, Short phalanx of finger, Broad thumb, Camptoda...	OMIM:616894
Leptospirosis	Respiratory distress, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage	ORPHA:509
Meacham Syndrome	Aplasia/Hypoplasia of the lungs, Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmo...	ORPHA:3097
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Vomiting	ORPHA:677
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Heterotaxy, Visceral, 12, Autosomal	Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex...	OMIM:619702
Camptodactyly Syndrome, Guadalajara Type 3	Short foot, Small hand, Broad femoral neck, Distal shortening of limbs	ORPHA:488434
Vacterl/Vater Association	Aplasia/Hypoplasia of the lungs	ORPHA:887
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Genu valgum, Hand polydactyly, Foot polydactyly, Synostosis o...	ORPHA:289
Robinow Syndrome, Autosomal Dominant 1	Broad toe, Brachydactyly, Rhizomelia, Micrognathia, Small hand, Mesomelia, Broad thumb, Radial de...	OMIM:180700
Slc39A8-Cdg	Limb undergrowth, Cutaneous syndactyly of toes	ORPHA:468699
Schwartz-Jampel Syndrome	Bowing of the long bones, Micromelia, Coxa valga, Micrognathia, Coxa vara, Genu valgum, Talipes e...	ORPHA:800
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Cutis marmorata, Peripheral arterial stenosis, Pathologic fractur...	OMIM:259900
Mednik Syndrome	Neonatal death, Death in infancy, Death in childhood	OMIM:609313
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Leukocyte Adhesion Deficiency Type Ii	Limb undergrowth, Overlapping toe	ORPHA:99843
Chromosome 14Q11-Q22 Deletion Syndrome	Mesomelia, Micrognathia	OMIM:613457
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Micrognathia, Postaxial hand polydactyly, Polydactyly, Short ribs, Mesome...	OMIM:613610
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Coxa valga, Avascular necro...	ORPHA:3107
Genitopatellar Syndrome	Pulmonary hypoplasia	OMIM:606170
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti...	OMIM:180500
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis, Patent ductus arteriosus, Bilateral superior vena cava with bridging vein, Pulmonary ar...	ORPHA:216694
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri...	OMIM:617205
Sacral Agenesis With Vertebral Anomalies	Neonatal death	OMIM:615709
Atresia Of Urethra	Abdominal distention, Patent urachus	ORPHA:105
Dihydropyrimidine Dehydrogenase Deficiency	Micromelia	ORPHA:1675
C Syndrome	Toe syndactyly, Micromelia, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Dislo...	ORPHA:1308
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ...	ORPHA:709
Microphthalmia, Syndromic 1	Pulmonary hypoplasia	OMIM:309800
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a...	ORPHA:402075

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 Prrx1

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 Prrx1.

No publications found that use IMPC mice or data for Prrx1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Prrx1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Prrx1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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