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Gene: Zfhx4 MGI:2137668

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Gene Summary

Name:
zinc finger homeodomain 4
Synonyms:
Zfh-4,  C130041O22Rik,  Zfh4

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Zfhx4em1(IMPC)J HET Early adult 6.60×10-07
decreased hematocrit Zfhx4em1(IMPC)J HET Early adult 7.93×10-05
preweaning lethality, complete penetrance Zfhx4em1(IMPC)J HOM   Early adult 0.00

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Zfhx4 mutations

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

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

The table below shows human diseases associated to Zfhx4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Ptosis
ORPHA:91411
Ptosis, Hereditary Congenital 1
OMIM:178300

The table below shows human diseases predicted to be associated to Zfhx4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Cleft palate, Aspiration pneumonia, Micr... ORPHA:141152
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Cleft pal... OMIM:601560
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Micrognathia, ... OMIM:147891
Nemaline Myopathy 9
High palate, Cleft palate, Micrognathia, Respiratory insufficiency, Arthrogryposis multiplex cong... OMIM:615731
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Flexion contracture, Micrognathia, Osteopenia, Short humerus, Microcephaly, Rhizomel... OMIM:222765
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress... OMIM:261800
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upp... ORPHA:75508
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Omodysplasia 2
Dislocated radial head, Short 1st metacarpal, Short humerus, Long philtrum, Rhizomelic arm shorte... OMIM:164745
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Dislocated radial head, Narrow mouth, Talipes equinovarus, Malar flattening, Flexion... OMIM:602471
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Rhizomelic Chondrodysplasia Punctata, Type 5
Asthma, Metaphyseal irregularity, Metaphyseal cupping, Talipes equinovarus, Coxa vara, Swan neck-... OMIM:616716
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, 11 pairs of ribs, Rhizomelia, Clubbing, Multinuclea... OMIM:108720
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Retrognathia, Micrognathia, Microcephaly, Gingival fib... ORPHA:1832
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Perching Syndrome
High palate, Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Micrognathia, Microcephaly, Cutaneous photosensitivity, Arthro... OMIM:616570
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress ORPHA:718
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Cleft palate, Short femur, Glossoptosis, Micrognathia, Femoral bowing, Metaphyseal widening, Brac... ORPHA:440354
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteo... ORPHA:1423
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Death in childhood, Tapered finger, Acrocyanosis, Short finger OMIM:302000
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... OMIM:249710
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Mesomelic arm short... OMIM:171480
Spondyloepiphyseal Dysplasia Congenita
Laryngotracheomalacia, Cleft palate, Dysplasia of the femoral head, Glossoptosis, Micrognathia, S... ORPHA:94068
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Deviation of finger, Genu valgum... ORPHA:2831
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Micromeli... OMIM:184260
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Kyphomelic Dysplasia
Cleft upper lip, Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility,... OMIM:211350
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Autosomal Dominant Omodysplasia
Malar flattening, Micrognathia, Short 1st metacarpal, Short humerus, Long philtrum, Rhizomelia, S... ORPHA:93328
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Short philtrum, Flared met... OMIM:156510
Femoral-Facial Syndrome
Preaxial foot polydactyly, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft... ORPHA:1988
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Neuralgic Amyotrophy
Narrow mouth, Cleft palate, Respiratory insufficiency, Scapular winging, Acrocyanosis ORPHA:2901
Odontochondrodysplasia
Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Micromelia,... ORPHA:166272
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbb... ORPHA:56304
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Apnea, Macrocephaly, Cleft palate, Short mandibular rami, Glos... OMIM:614669
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangism affecting the phalanges... OMIM:186500
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Long philtrum, Hypoplasia o... ORPHA:2878
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Microcephaly, Hypopl... OMIM:612447
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Split hand, Microcephaly, Short humerus, Micromelia, Postaxial ha... ORPHA:2491
Congenital Disorder Of Glycosylation, Type Iu
High palate, Respiratory distress, Micrognathia, Death in infancy, Neonatal respiratory distress,... OMIM:615042
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis, Clubbing OMIM:219400
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Cleft palate, Short ribs, Short femur, Micrognathia, Flared metaphysi... OMIM:616897
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Arthrogryposis, Distal, Type 1C
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... OMIM:619110
Aase-Smith Syndrome
Joint stiffness, Multiple joint contractures, Talipes equinovarus, Slender finger, Cleft palate, ... ORPHA:916
Phosphoserine Aminotransferase Deficiency
Apnea, Secondary microcephaly, Death in infancy, Cyanotic episode OMIM:610992
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Kniest Dysplasia
Respiratory distress, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Hip contracture,... OMIM:156550
Atelosteogenesis Type I
Malrotation of colon, Talipes equinovarus, Cleft palate, Short femur, Abnormal ossification invol... ORPHA:1190
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Talipes equinovarus, Malar flattening, Cleft palate, Bifid hum... OMIM:256050
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cleft palate, Micrognathia, Cyanosis, Microcephaly, Tachypnea, Pneumothorax, Abnor... ORPHA:2257
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Fragmented epiphys... ORPHA:166016
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Malar flattening, Cleft palate, Glossoptosis, Mi... ORPHA:1388
Orofacial Cleft 13
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate OMIM:613857
Atelosteogenesis Type Iii
High palate, Abnormality of the humerus, Patellar dislocation, Hand clenching, Elbow dislocation,... ORPHA:56305
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Wide mouth, Micrognathia, Microcephaly, Widely spaced teeth, Clinodactyly OMIM:300934
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... OMIM:618363
Auriculocondylar Syndrome
Respiratory distress, Dental malocclusion, Narrow mouth, Abnormality of the crus of the helix, Ma... ORPHA:137888
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Delayed eruption of teeth, Oste... OMIM:309350
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Respiratory distress, Talipes equinovarus, Cleft palate, Respiratory insufficiency, ... OMIM:614399
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger, Neonatal de... OMIM:227270
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Camptodactyly, Bowing of the long bon... OMIM:619751
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Cleft palate, Everted lower lip vermilion, Micrognathia, Oral synechia ORPHA:2016
Paget Disease Of Bone 5, Juvenile-Onset
Premature loss of teeth, Recurrent fractures, Macrocephaly, Relative macrocephaly, Increased bone... OMIM:239000
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Malar flattening, Cleft palate, Small hand, Abnormal hand morphology, Short foot OMIM:300261
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, ... ORPHA:3320
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Abnormal hip bone morphology, Thin vermilion border, Retrognathia, Camptodactyly of... ORPHA:2631
Diaphanospondylodysostosis
Respiratory distress, Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimal... ORPHA:66637
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxi... OMIM:246560
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short philtrum, Short hum... OMIM:607143
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... ORPHA:90650
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla ORPHA:2776
Split-Foot Deformity With Mandibulofacial Dysostosis
Malar flattening, Cleft palate, Split foot, Micrognathia, Split hand, Toe syndactyly OMIM:183700
Cerebrocostomandibular Syndrome
High palate, Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Malar flattening, Gl... OMIM:117650
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Macrocephaly, Microretrognathia, Abnormal morphology of ulna, Cleft pa... ORPHA:1307
Moebius Syndrome
High palate, Respiratory distress, Talipes equinovarus, Abnormality of the dentition, Micrognathi... OMIM:157900
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Short femoral neck, Rhizomelia, Prominent deltoid tub... OMIM:610319
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Macrocephaly, Talipes equinovarus, Camptodactyly of finger, Microcephaly, Tapered fi... ORPHA:85279
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Multiple joint contractures, Toe clinodactyly, Malar flatten... OMIM:300244
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of t... OMIM:617102
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Short toe, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Gen... OMIM:614078
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Flexion contracture, Micrognathia, Wrist flexion contractu... ORPHA:1143
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Talipes equinovarus, Hand clenching, Areflexia of lower limbs, Retrognathia, Microgn... OMIM:611890
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Baller-Gerold Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos... OMIM:218600
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia, Ankle flexion contracture, High, narrow palate, Small hand,... OMIM:608799
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Retrognathia, Micrognathia, Camptodactyly of finger, Microcephaly, Bifid uvula, Man... ORPHA:2521
Multiple Epiphyseal Dysplasia Type 4
High palate, Short metacarpal, Cleft palate, Arthralgia of the hip, Abnormal hand morphology, Upp... ORPHA:93307
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... ORPHA:3201
Diastrophic Dysplasia
Hip contracture, Talipes equinovarus, Cleft palate, Costal cartilage calcification, Irregular epi... OMIM:222600
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... ORPHA:93316
Codas Syndrome
Anal atresia, Metaphyseal dysplasia, Delayed ossification of carpal bones, Generalized joint laxi... OMIM:600373
Pelviscapular Dysplasia
Mesomelic leg shortening, Macrocephaly, Short femur, Hypoplastic ilia, Congenital hip dislocation... ORPHA:93333
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Osteopenia, Delayed eruption of teeth, Tapered finger, Flat capital femoral epiphysi... OMIM:612350
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Nager Syndrome
Wide mouth, Joint stiffness, Cleft palate, Hypoplasia of the radius, Micrognathia, Respiratory in... ORPHA:245
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Thanatophoric Dysplasia Type 1
Joint stiffness, Macrocephaly, Short femur, Excessive wrinkled skin, Femoral bowing, Respiratory ... ORPHA:1860
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Microgna... ORPHA:576283
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Hypoglossia With Situs Inversus
High palate, Respiratory distress, Narrow mouth, Hypodontia, Micrognathia, Upper airway obstructi... OMIM:612776
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Craniosynostosis, R... OMIM:201550
Acrorenal Syndrome
Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia... ORPHA:971
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Amelia, Bilateral cleft lip and palate, Foot oligodactyly OMIM:601357
Rhizomelic Syndrome, Urbach Type
High palate, Short distal phalanx of finger, Abnormality of the tongue, Cleft palate, Micrognathi... ORPHA:3098
Cranioectodermal Dysplasia 1
High palate, Microdontia, Single transverse palmar crease, Rhizomelia, Sagittal craniosynostosis,... OMIM:218330
Catifa Syndrome
Asthma, Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Mild microceph... OMIM:618761
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia ... ORPHA:1248
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular... OMIM:226440
Cleft Velum
Aspiration pneumonia, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate ORPHA:99772
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Microretrognathia, Cyanosis, Rectal prolapse, Overtubulate... OMIM:619793
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Malar flattening, Cleft palate, Glossoptosis, Micrognathia, Osteoarthritis, Long philtrum, Abnorm... ORPHA:166100
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Cleft pala... OMIM:108721
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Keipert Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Macrocephaly, Broad hallux phalan... ORPHA:2662
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Micromelia, Abnormality of the humerus, Abnormality of the ankle... ORPHA:2496
Aarskog-Scott Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Single transverse palmar c... ORPHA:915
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Apnea, Macrocephaly, Cleft palate, Glossoptosis, Micrognathia,... OMIM:602483
Rhizomelic Chondrodysplasia Punctata, Type 1
Malar flattening, Cleft palate, Flexion contracture, Micrognathia, Respiratory insufficiency, Fla... OMIM:215100
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Leri-Weill Dyschondrosteosis
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... OMIM:127300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, 11 pairs of ribs, Micromelia, Long foot, Single transverse palmar crease, Prolong... OMIM:210710
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormality of the dentition, Mic... ORPHA:1350
Lujan-Fryns Syndrome
High palate, Macrocephaly, Arachnodactyly, Abnormality of the dentition, Short philtrum, Microgna... ORPHA:776
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Tracheoesophageal fistula, Short humerus, Hand polydactyly, Proximal placement of t... OMIM:314390
Jackson-Weiss Syndrome
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... ORPHA:1540
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... OMIM:602418
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
High palate, Respiratory distress, Talipes equinovarus, Arthrogryposis-like hand anomaly, Paradox... OMIM:620011
Cleidocranial Dysplasia 1
High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala... OMIM:119600
Temple Syndrome
High palate, Relative macrocephaly, Cleft palate, Flexion contracture, Small hand, Micrognathia, ... OMIM:616222
Paget Disease Of Bone 2, Early-Onset
Premature loss of teeth, Sclerosis of skull base, Short femur, Femoral bowing, Fractures of the l... OMIM:602080
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Split foot, Microcephaly, Oral cleft, Premature skin wrinkling, Ma... OMIM:601349
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Dislocated radial head, Talipes equinovarus, Long upper lip, Cleft palate, Micrognat... ORPHA:93359
Pfeiffer Syndrome Type 2
High palate, Anal atresia, Respiratory distress, Malar flattening, Cleft palate, Intestinal malro... ORPHA:93259
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... ORPHA:2725
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Hip contracture, Malar flattening, Cleft palate, Flared metaphys... OMIM:601561
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Micrognathia, Long ... ORPHA:93329
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Short fifth metatarsal, Talipes equ... OMIM:134780
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Treacher Collins Syndrome 4
Malar flattening, Cleft palate, Micrognathia, Microcephaly, Respiratory failure requiring assiste... OMIM:618939
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Oligodontia, Flared metaphysis,... OMIM:601668
Omodysplasia 1
Malar flattening, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Short... OMIM:258315
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Postsynaptic Congenital Myasthenic Syndromes
High palate, Reduced vital capacity, Triceps weakness, Shoulder girdle muscle weakness, Cyanosis,... ORPHA:98913
Lowry-Maclean Syndrome
Microcephaly, Delayed eruption of teeth, Cleft palate, Craniosynostosis OMIM:600252
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Short hallux, Oligodontia of primary teeth, Sandal gap, Cleft soft palate OMIM:216300
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Malar flattening, Cleft palate, Pierre-Robin sequence, Premature osteoarthr... OMIM:184840
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Metatarsal osteolysis, Micrognathia, Osteopenia, Pes cavus, Bilatera... OMIM:166300
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... OMIM:170390
Short Stature, Brussels Type
Calcification of cartilage, Macrocephaly, Microretrognathia, Delayed epiphyseal ossification ORPHA:2867
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Stickler Syndrome Type 1
Cleft palate, Osteoarthritis, Long philtrum, Abnormality of vertebral epiphysis morphology, Abnor... ORPHA:90653
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Wide mouth, High, narrow palate, Thin vermilion border, Retrognathia, Short... ORPHA:2707
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Macrocephaly, Cone-shape... ORPHA:397973
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Preaxial hand polydactyly, Microcephaly, Cleft palate OMIM:601420
Orofaciodigital Syndrome Type 10
Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Oligodactyly, Tarsal syn... ORPHA:2756
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Slender long bones with narrow diaphyses, Osteopenia, Metaphyseal st... OMIM:608154
Acrodysostosis
Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Cone-shaped epiphysi... ORPHA:950
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Primary microcephaly ORPHA:171703
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Coxa vara, Talipes equinovarus, Malar flattening, Cleft palate, Delayed cal... OMIM:183900
Auriculocondylar Syndrome 3
Glossoptosis, Micrognathia, Retrognathia, Bifid uvula OMIM:615706
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... OMIM:256200
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Micr... ORPHA:2741
Langer Mesomelic Dysplasia
High palate, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Mesomelic... ORPHA:2632
Diastrophic Dysplasia
Joint stiffness, Hypoplastic cervical vertebrae, Macrocephaly, Increased bone mineral density, Cl... ORPHA:628
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... ORPHA:1856
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Anal atresia, Pectora... OMIM:607323
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... ORPHA:70589
Ulbright-Hodes Syndrome
High palate, Respiratory distress, Narrow mouth, Aplasia/Hypoplasia of the ulna, Short sternum, L... ORPHA:3404
Spinal muscular atrophy, type I, with congenital bone fractures
High palate, Respiratory distress, Flexion contracture, Arachnodactyly, Osteopenia, Congenital hi... OMIM:271225
Occipital Horn Syndrome
High palate, Short clavicles, Hiatus hernia, Coxa valga, Bruising susceptibility, Short humerus, ... OMIM:304150
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Malar flattening, Arachnodactyly, Micrognathia, Bifid uvula, L... OMIM:604841
Osteoglophonic Dysplasia
High palate, Respiratory distress, Broad phalanx, Craniosynostosis, Rhizomelia, Bowing of the lon... OMIM:166250
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... OMIM:183849
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Micrognathia, Respiratory insufficiency due to muscle weakness OMIM:300580
Zimmermann-Laband Syndrome 3
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... OMIM:618658
Meier-Gorlin Syndrome 1
High palate, Respiratory distress, Cleft palate, Absent glenoid fossa, Microdontia, Genu valgum, ... OMIM:224690
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnoda... ORPHA:2759
Mohr Syndrome
High palate, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the maxilla, Partial d... OMIM:252100
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cleft palate, Tracheomalacia, Micrognathia, Microcephaly, Brachydactyly, Sy... OMIM:217980
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, U-Shaped upper l... OMIM:609945
Congenital Myasthenic Syndrome
High palate, Episodic respiratory distress, Microretrognathia, Respiratory arrest, Central sleep ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
High palate, Episodic respiratory distress, Microretrognathia, Respiratory arrest, Central sleep ... ORPHA:98914
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Respiratory distress, Hip contracture, Ankle flexion contracture, Short ribs, Respir... ORPHA:1145
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Micrognathia, Bro... OMIM:300990
Choanal Atresia
Respiratory distress, Tracheomalacia, Craniosynostosis, Cyanosis, Abnormal nasal mucus secretion,... ORPHA:137914
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... OMIM:268305
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Broad hallux phalanx, Sho... ORPHA:959
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness... OMIM:254210
Fetal Akinesia Deformation Sequence 2
High palate, Cleft palate, Flexion contracture, Micrognathia, Respiratory insufficiency, Tented u... OMIM:618388
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Pyloric stenosis, Hypoplasia of the ulna... OMIM:181450
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... OMIM:136760
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Tetrasomy 5P
High palate, Respiratory distress, Overlapping toe, Clinodactyly of the 5th finger, Talipes equin... ORPHA:3309
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... ORPHA:1302
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Chylothorax, Retrognathia, Micrognathia, Hypoplasia of... ORPHA:3015
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Cyanosis... ORPHA:2302
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
2Q32Q33 Microdeletion Syndrome
High palate, Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Toe clinodactyly,... ORPHA:251019
Aminopterin Syndrome Sine Aminopterin
High palate, Macrocephaly, Joint contracture of the hand, Cleft palate, Arachnodactyly, Micrognat... OMIM:600325
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Macrocephaly, Abnormal morphology of ulna, Abnor... ORPHA:1275
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Malar flattening, Cleft palate, Arachnodactyly, Micrognathia, Microcephaly, Death i... ORPHA:93946
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Respiratory distress, Micrognathia, Osteopenia, Deep philtrum, ... ORPHA:329178
Say Syndrome
Short distal phalanx of finger, Cleft palate, Micrognathia, Ulnar deviation of the 3rd finger, Mi... OMIM:181180
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Trident pelvis, Flexion contracture, Short humerus, Long philtrum, Microdontia, Brachydactyly, Sh... OMIM:619479
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... OMIM:183600
Campomelic Dysplasia
High palate, Respiratory distress, Apnea, Poorly ossified cervical vertebrae, Macrocephaly, Cleft... OMIM:114290
20P12.3 Microdeletion Syndrome
Narrow mouth, Macrocephaly, Malar flattening, Broad hallux phalanx, Long philtrum, Broad thumb, H... ORPHA:261295
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Malar flattening, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the distal ph... ORPHA:94066
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Ear-Patella-Short Stature Syndrome
Respiratory distress, Cleft palate, Craniosynostosis, Abnormal epiphysis morphology, Hypoplasia o... ORPHA:2554
Rapadilino Syndrome
High palate, High, narrow palate, Cleft palate, Absent thumb, Aplasia/Hypoplasia of the patella, ... OMIM:266280
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Short distal phalanx of finger, Microretrognathia, Cleft palate, Arachnodactyly, Ab... ORPHA:2994
Rare Circulatory System Disease
Abnormality of finger, Abnormal metatarsal morphology, Cyanosis, Decreased finger mobility, Perio... ORPHA:98028
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Short philtrum, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallux, Hypop... ORPHA:439822
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, Abnormality of the upper limb, Hypoplasia of the maxilla,... ORPHA:1106
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Joint hypermobility, Mic... OMIM:216550
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Macrocephaly, Long foot, Long palm, Hypoplasia of the maxilla, Mandibular prognathia OMIM:300676
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, 2-3 toe syndactyly, Micrognathia, Cyanosis, Microcephaly, Single transverse palmar c... ORPHA:3304
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phalanx of the thumb, ... OMIM:311300
Agnathia-Otocephaly Complex
Respiratory distress, Narrow mouth, Cleft palate, Tracheomalacia, Micrognathia, Aglossia, Mandibu... OMIM:202650
Waardenburg Syndrome Type 3
Joint stiffness, Abnormality of finger, Tracheomalacia, Camptodactyly of finger, Microcephaly, Sy... ORPHA:896
Dysostosis, Stanescu Type
Tooth agenesis, Increased bone mineral density, Macroglossia, Massively thickened long bone corti... ORPHA:1798
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Respiratory distress, Macroglossia, Respiratory failure requiring assisted ventilati... ORPHA:254864
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... OMIM:265120
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Macrocephaly, Flexion contracture, Neonatal death, Fragile skin, Congenital pyloric atresia OMIM:612138
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Classic Glucose Transporter Type 1 Deficiency Syndrome
Progressive microcephaly, Cyanosis, Central apnea ORPHA:71277
Geroderma Osteodysplasticum
Recurrent fractures, Periodontitis, Tibial bowing, Progeroid facial appearance, Malar flattening,... OMIM:231070
Van Den Ende-Gupta Syndrome
High palate, Cleft palate, Craniosynostosis, Femoral bowing, Narrow foot, Tapered finger, Glenoid... OMIM:600920
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Thin vermilion border, Micrognathia, Short philtrum, Microcephaly ORPHA:261304
Myotubular Myopathy With Abnormal Genital Development
High palate, Respiratory distress, Retrognathia, Neonatal death, Death in infancy, Joint hypermob... OMIM:300219
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Pallister-Hall-Like Syndrome
Macrocephaly, Cleft palate, Short ribs, Micrognathia, Micromelia, Postaxial hand polydactyly, Dea... OMIM:241800
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... OMIM:605282
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Aplasia/hypoplasia of the humerus, Upper limb phocomelia, Radial ... ORPHA:3312
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Tongue fasciculations ORPHA:238329
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, Thin bony cortex, Hypoplasia of ... OMIM:259600
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Cyanosis, Neonatal death, Tachypnea, Cough, Clubbing, Dea... OMIM:610921
Cleidocranial Dysplasia
Macrocephaly, Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruptio... ORPHA:1452
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis, Microcephaly, Lip discoloration ORPHA:621
Pfeiffer Syndrome
High palate, Elbow ankylosis, Humeroradial synostosis, Coronal craniosynostosis, Short middle pha... OMIM:101600
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Short metacarpal, Malar flattening, Cleft palate, Flexion contracture, Micr... OMIM:215150
Amish Lethal Microcephaly
Micrognathia, Microcephaly, Osteoporosis, Decreased skull ossification, Death in infancy, Limitat... ORPHA:99742
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Desbuquois Dysplasia 2
Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Single transverse palmar crease, ... OMIM:615777
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Pat... OMIM:274000
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Partial d... OMIM:616331
Cardiocranial Syndrome, Pfeiffer Type
Temporomandibular joint ankylosis, Episodic tachypnea, High, narrow palate, Slender finger, Micro... ORPHA:2872
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... ORPHA:91359
Renal Dysplasia-Limb Defects Syndrome
High palate, Respiratory distress, Narrow mouth, Aplasia of the ulna, Short sternum, Talipes equi... OMIM:266910
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Joint stiffness, Tooth agenesis, Cleft palate, Abnormality of lower lip, Abnormal hip bone morpho... ORPHA:1166
Martsolf Syndrome 1
High palate, Finger joint hypermobility, Short philtrum, Broad fingertip, Hypoplasia of the maxil... OMIM:212720
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Cleft palate, Hand oligodactyly... OMIM:206920
Orofaciodigital Syndrome X
Hand oligodactyly, Cleft palate, Retrognathia, Coalescence of tarsal bones, Fibular aplasia, Prea... OMIM:165590
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Progressive microcephaly, Adducted thumb, Thin vermilion border, Short philtrum, Microcephaly, Bi... OMIM:618622
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Relative macrocephaly, Short ribs, Hypoplasia of the radius, Hypoplastic il... OMIM:617895
Coffin-Lowry Syndrome
High palate, Wide mouth, Broad finger, Delayed eruption of teeth, Advanced eruption of teeth, Dea... ORPHA:192
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Femoral bowing, Osteopenia, Short ribs OMIM:618188
Coloboma Of Macula And Skeletal Anomalies
Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger, Genu valgum, Hal... OMIM:216800
Crisponi/Cold-Induced Sweating Syndrome 1
High palate, Narrow mouth, Talipes equinovarus, Adducted thumb, Retrognathia, Micrognathia, Long ... OMIM:272430
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Arthralgia of the hip, Abnormal cartilage morphology, Premature os... ORPHA:93284
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Progressive microcephaly, Thin upper lip vermilion, Long philtrum OMIM:614741
Arthrogryposis, Distal, Type 3
High palate, Overlapping toe, Decreased hip abduction, Talipes equinovarus, Cleft palate, Microgn... OMIM:114300
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Slender finger, Malar flattening, Cleft palate, Micrognathia, Microcephaly,... OMIM:610536
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Abnormality of the dentition, Camptodactyly of finger, Microcephaly, Long philt... ORPHA:178303
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Flexion contracture of finger, Abnormality of the dentition, Osteope... ORPHA:3206
Pfeiffer Syndrome Type 3
High palate, Anal atresia, Respiratory distress, Cleft palate, Tracheomalacia, Intestinal malrota... ORPHA:93260
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Micrognathia, Osteopenia, Brachydactyly, Delayed eruption of teeth, Slende... OMIM:601812
Greenberg Dysplasia
Macrocephaly, Anterior rib punctate calcifications, 11 pairs of ribs, Micromelia, Rhizomelia, Hyp... OMIM:215140
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Malar flattening, Cutaneous syndactyly of t... OMIM:225060
Intellectual Developmental Disorder, Autosomal Dominant 53
Wide mouth, Duodenal atresia, Macrocephaly, Short femur, Intestinal malrotation, Microcephaly, Ge... OMIM:617798
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of finger, A... ORPHA:1529
Laryngeal Abductor Paralysis
Microcephaly, Cyanosis, Stridor, Talipes equinovarus OMIM:150260
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Tibial bowing, Limitation of joint mobility, Abnormal iliac wing morphology... ORPHA:1427
Short Stature-Micrognathia Syndrome
High palate, 2-3 toe syndactyly, Cleft palate, Retrognathia, Micrognathia, Metaphyseal widening, ... OMIM:617164
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Malar flattening, Cleft palate, Micrognathia, Genu valgum, Abnormal epiphys... ORPHA:250984
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough ORPHA:77260
Hypomandibular Faciocranial Dysostosis
Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Aglossia, Hypoplasia of th... OMIM:241310
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Cleft palate, Micrognathia, Hypoplastic distal segments of scapulae, Joint hypermobility, Pierre-... OMIM:602196
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Acropectorovertebral Dysplasia
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... ORPHA:957
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Absent ossification of capit... ORPHA:226313
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Erythema, Angioedema, Upper airway obstruction, Swollen lip ORPHA:100057
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Clinodactyly of the 5th finger, Microcephaly, Long philtrum, Long fingers, Tapered finger, Joint ... OMIM:614407
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea, C... OMIM:610910
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Cyanosis, R... OMIM:610913
Tetraploidy
Cleft palate, Micrognathia, Short philtrum, Radial club hand, Microcephaly, Biparietal narrowing ORPHA:3305
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Abnormal femoral neck/head morphology, Abnormal bone ossification, Slender finger, C... ORPHA:163649
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cleft palate, Split foot, Median cleft lip, Split hand, Cutaneous finger synd... DECIPHER:46
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, 2-3 toe syndactyly, Flexion contracture, Tapered finger, Long fingers, Hypoplasia of... OMIM:218000
Diaphanospondylodysostosis
Respiratory distress, Talipes equinovarus, Cleft palate, Tracheomalacia, Micrognathia, Respirator... OMIM:608022
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... ORPHA:2635
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Metacarpophalangeal joint contracture, Edema of the dorsum of feet, Hypodon... ORPHA:544503
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Sagittal cranio... OMIM:201000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Flexion contracture, Short femur, Microcephaly, Short humerus, Polyd... ORPHA:17
Braddock-Carey Syndrome 2
Wide mouth, Cleft palate, Retrognathia, Microcephaly, Clinodactyly, Pierre-Robin sequence OMIM:619981
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Macrocephaly, Delayed eruption of teeth, Long foot, Pneumoni... OMIM:264090
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, Ca... OMIM:601016
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Short distal phalanx of finger, Talipes calcaneovarus, Macrocephaly, Talipes equinov... OMIM:300534
Meier-Gorlin Syndrome 5
Micrognathia, Microcephaly, Long philtrum, Hypoplasia of the capital femoral epiphysis, Irregular... OMIM:613805
Ophthalmomandibulomelic Dysplasia
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Coxa valga, Ul... OMIM:164900
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Macrocephaly, Hiatus hernia, Craniosynostosis, ... ORPHA:3342
Otopalatodigital Syndrome, Type Ii
Cleft palate, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rud... OMIM:304120
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... OMIM:228940
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Micrognathia, Short ti... OMIM:258860
Aarskog-Scott Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Hyperextensibility of the finger joints, Brachydactyly... OMIM:305400
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Micrognathia, Bifid uvula, Cleft palate OMIM:606164
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Gingival overgrowth, Short humerus, Brachydactyly, Delayed eruption of teeth, Rhizomelic arm shor... ORPHA:508542
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Cleft palate, Micrognathia, Limb undergrowth, Abnormal metacarpa... ORPHA:3429
Ollier Disease
Joint stiffness, Micromelia, Abnormal cartilage morphology, Osteolysis, Abnormal metaphysis morph... ORPHA:296
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Respiratory distress, Apnea, Aspiration pneumonia, Micrognathia, Polydactyly, Deep p... ORPHA:314655
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Cone-shaped epiphyses of the phalanges of the hand, Short humerus, Brachyda... ORPHA:420794
Lowry-Maclean Syndrome
High, narrow palate, Cleft palate, Craniosynostosis, Retrognathia, Micrognathia, Osteopenia, Micr... ORPHA:2409
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Cleft palate, Club-shaped prox... OMIM:184250
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Macrocephaly, Malar flattening, ... OMIM:269250
Lethal Kniest-Like Dysplasia
Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal cartilage matrix, Cleft palate, Short... ORPHA:2347
Synaptic Congenital Myasthenic Syndromes
High palate, Respiratory distress, Sleep apnea, Hand muscle weakness, Talipes equinovarus, Triang... ORPHA:98915
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Orofaciodigital Syndrome Ix
High palate, Accessory oral frenulum, Cleft palate, Abnormality of the dentition, Short tibia, Mi... OMIM:258865
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
Tarp Syndrome
Alveolar ridge overgrowth, Apnea, Hypoplasia of proximal radius, Short sternum, Talipes equinovar... ORPHA:2886
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Cleft palate, Craniosynostosis, Micrognat... OMIM:251230
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Postaxial polydactyly, Short philtrum, Diastema, Limb undergrowth, Genu ... OMIM:619142
Occipital Horn Syndrome
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... ORPHA:198
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Small hand, Micrognathia, Short philtrum, Bifid uvula, P... ORPHA:96184
Meckel Syndrome 14
Microretrognathia, Postaxial polydactyly, Retrognathia, Micrognathia, Decreased calvarial ossific... OMIM:619879
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Bilateral talipes equinovarus, Micrognathia, Cyanotic episode, Primary microcep... ORPHA:284417
Van Maldergem Syndrome 1
High palate, Short fourth metatarsal, Osteopenia, Tented upper lip vermilion, Hypoplasia of the m... OMIM:601390
Kniest Dysplasia
Flexion contracture of finger, Macrocephaly, Cleft palate, Abnormal bone structure, Dumbbell-shap... ORPHA:485
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... ORPHA:2712
Double Outlet Right Ventricle
Narrow mouth, Abnormality of cartilage of external ear, Cleft palate, Intestinal malrotation, Cya... ORPHA:3426
Nablus Mask-Like Facial Syndrome
High palate, Narrow mouth, Joint contracture of the hand, Craniosynostosis, Retrognathia, Abnorma... OMIM:608156
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Microretrognathia, Adducted thumb, Primary microcephaly, Rocker bottom foot ORPHA:89844
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Macrocephaly, Flexion contracture, Arachnodactyly, Micrognathia, Short philtrum, Hyp... OMIM:309520
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Malar flattening, Respiratory insufficiency, Brachydactyly, Abnormal metacarpal morphology, Hypop... ORPHA:93262
Myopathy And Diabetes Mellitus
Respiratory distress, Shoulder girdle muscle weakness, Hyporeflexia of upper limbs, Achilles tend... ORPHA:2596
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... ORPHA:60032
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Syndactyly... OMIM:129400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Macrocephaly, Slender finger, Cleft palate, Abnormality of the dentition, Short phil... ORPHA:251028
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Broad long bones, Macrodontia of permanent maxillary central i... OMIM:257850
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Hypoplastic verteb... OMIM:263540
Multiple Osteochondromas
Abnormality of femur morphology, Hemothorax, Abnormal hand morphology, Abnormality of fibula morp... ORPHA:321
Xylt1-Cdg
Short clavicles, Relative macrocephaly, Cleft palate, Flared metaphysis, Microcephaly, Long philt... ORPHA:370930
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Short clavicles, Talipes equinovarus, Malar flattening, Tracheo... OMIM:615546
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Respiratory distress, Multiple joint contractures, Slender long bones with narrow di... ORPHA:536467
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... OMIM:616367
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Microcephaly, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Malar flattening, Cleft palate, Micromelia, ... ORPHA:85166
Pelvis-Shoulder Dysplasia
Dislocated radial head, Talipes equinovarus, Cleft palate, Aplasia/Hypoplasia of the clavicles, M... ORPHA:2839
Seckel Syndrome 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, 11 pairs of ribs, ... OMIM:210600
Hartsfield Syndrome
Cleft palate, Craniosynostosis, Respiratory insufficiency, Aplasia/Hypoplasia of the radius, Non-... ORPHA:2117
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... OMIM:154780
X-Linked Centronuclear Myopathy
High palate, Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Bartsocas-Papas Syndrome
Narrow mouth, Cleft palate, Absent thumb, Micrognathia, Microcephaly, Synostosis of joints, Media... ORPHA:1234
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Cleft palate, Brachydactyly, Hypoplasia of the maxilla, Clinodact... OMIM:614261
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Hypoplasia of the maxilla, Progressive microcephaly, Thin upper lip vermi... OMIM:618737
Osteopathia Striata-Cranial Sclerosis Syndrome
Macrocephaly, Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density... ORPHA:2780
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Narrow mouth, Petechiae, Everted lower lip vermilion, Retrognathia, ... OMIM:608013
Distal Xq28 Microduplication Syndrome
High palate, Asthma, Microcephaly, Short lingual frenulum, Hypoplasia of the maxilla, Clinodactyl... ORPHA:293939
Orofaciodigital Syndrome Type 2
High palate, Apnea, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete du... ORPHA:2751
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the hand, Hypoplasia of... OMIM:122880
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Abnormality of the dentition, S... ORPHA:3455
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... ORPHA:264675
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Saethre-Chotzen Syndrome
Sleep apnea, Narrow palate, Clinodactyly of the 5th finger, Cleft palate, Open bite, Proximal rad... ORPHA:794
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Respiratory distress, High, narrow palate, Prominent fingertip pads, Small hand, Lon... OMIM:612863
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Craniosynostosis, Osteopenia, Genu valgum, Hypoplasia of the maxilla, Talipes equino... OMIM:182212
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachydactyly, Triphalangeal thumb, Bicoronal synostosis, ... OMIM:604757
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Microcephaly ORPHA:26792
Diamond-Blackfan Anemia 6
Cleft upper lip, Cleft palate, Tracheomalacia, Retrognathia, Micrognathia, Bifid uvula, Triphalan... OMIM:612561
Hemifacial Microsomia With Radial Defects
Cleft palate, Short mandibular rami, Oral cleft, Triphalangeal thumb, Complete duplication of thu... OMIM:141400
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac wing, Long ph... ORPHA:50814
Oculomaxillofacial Dysostosis
Cleft palate, Adducted thumb, Abnormality of the dentition, Micrognathia, Camptodactyly of finger... ORPHA:1794
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Anal atresia, Cleft palate, Postaxial polydactyly, Small hand, Abnormality ... OMIM:300968
Achondrogenesis, Type Ii
Cleft palate, Short ribs, Short tubular bones of the hand, Absent vertebral body mineralization, ... OMIM:200610
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Malar flattening, Cleft palate, Micrognathia, Hypoplasia of the maxilla,... ORPHA:79113
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... OMIM:614701
Meier-Gorlin Syndrome 4
Narrow mouth, Genu recurvatum, Micrognathia, Microcephaly, Slender long bone, Hypoplasia of the m... OMIM:613804
Craniofaciofrontodigital Syndrome
Respiratory distress, Gingival overgrowth, Prominent median palatal raphe, Macroglossia, Finger j... ORPHA:363705
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Narrow mouth, Miscarriage, Talipes equinovarus, Limitation of joint mobility,... ORPHA:1865
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... ORPHA:140
Anaplastic Thyroid Carcinoma
Respiratory distress, Tracheoesophageal fistula, Cough, Upper airway obstruction, Laryngotracheal... ORPHA:142
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Brachydactyly, Hallux valgus, Thick vermilion border OMIM:617180
Pallister W Syndrome
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Pes cavus, Camptodacty... OMIM:311450
Congenital Tracheomalacia
Apnea, Tracheomalacia, Decreased peak expiratory flow, Tracheoesophageal fistula, Respiratory ins... ORPHA:95430
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Tape... ORPHA:193
Pitt-Hopkins Syndrome
Wide mouth, Hiatus hernia, Short philtrum, Narrow foot, Finger clinodactyly, Tapered finger, Broa... ORPHA:2896
Larsen-Like Syndrome
Dental malocclusion, Clinodactyly of the 5th finger, Talipes equinovarus, Macrocephaly, Malar fla... OMIM:608545
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Drumstick terminal phalanges, Cleft palate, Thin vermilion border, Ret... OMIM:612938
Meier-Gorlin Syndrome 3
Coxa vara, Narrow mouth, Microretrognathia, Talipes equinovarus, Tracheomalacia, Short ribs, Micr... OMIM:613803
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Acrofacial Dysostosis, Cincinnati Type
Flared lower limb metaphysis, Cleft palate, Retrognathia, Micrognathia, Femoral bowing, Microceph... OMIM:616462
Hypoglossia-Hypodactyly Syndrome
High palate, Anal atresia, Narrow mouth, Short distal phalanx of finger, Aplasia/Hypoplasia of th... ORPHA:989
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... OMIM:619980
Postaxial Acrofacial Dysostosis
Malar flattening, Cleft palate, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, ... ORPHA:246
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the maxilla, Sho... OMIM:300106
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Narrow mouth, Tooth agenesis, Narrow palate, Cleft palate, Malar flattening... ORPHA:1555
Hydrolethalus Syndrome 2
Cleft palate, Micrognathia, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Osteoporosis, Clinodactyly, Cleft palate OMIM:614838
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Ankle clonus, Respiratory insufficiency, Hand muscle atrophy, Tongue atroph... OMIM:211530
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Cleft palate, Craniosynostosis, Micrognathia, Brachydactyly, Arthrogryposis multiplex congenita OMIM:618265
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Joint stiffness, Hypodontia, Cleft palate, Short long bone, Oligodontia, Microce... OMIM:619184
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
W Syndrome
Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Broad uvula, Cubitus... ORPHA:2804
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cleft palate, Abnormally ossified vertebrae, Osteopenia, Abnormality of the pubic bone, Micromeli... ORPHA:2636
Myhre Syndrome
Joint stiffness, Narrow mouth, Large iliac wing, Cleft palate, Abnormal metaphysis morphology, Th... ORPHA:2588
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Thigh hypertrophy, Calf muscle hypertrophy, Microcephaly, Cough, Dyspnea, T... ORPHA:86812
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Micrognathia, Small thenar emine... OMIM:239800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Microcephaly OMIM:250800
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Asthma, Calcaneal epiphyseal stippling, Abnormal ossification inv... ORPHA:79345
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Tracheoesophageal fistula, Abnormality of the dentition, B... ORPHA:861
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Flexion contracture, Thin vermilion border, Arachnodactyly, Long philtrum, Broad hal... ORPHA:481152
Acrodysostosis 1 With Or Without Hormone Resistance
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