Gene Summary

zinc finger homeodomain 4
Zfh-4,  C130041O22Rik,  Zfh4

IMPC Phenotype Summary

Not Significant
Not tested


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
preweaning lethality, complete penetrance Zfhx4em1(IMPC)J HOM   Early adult 0.00
decreased hematocrit Zfhx4em1(IMPC)J HET   Early adult 9.24×10-05

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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.

Combined SHIRPA and Dysmorphology


3 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Electroretinography 3

Fundus file

7 Images

MicroCT E18.5

Embryo reconstruction

4 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Electrocardiogram (ECG)

Waveform Image

17 Images

Auditory Brain Stem Response

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

8 Images

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
Matching phenotypes Source
Ptosis, Hereditary Congenital 1

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

Disease Similarity of
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, ... ORPHA:141152
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ... OMIM:147891
Perching Syndrome
Respiratory distress, High palate, Camptodactyly, Joint contracture, Cyanosis OMIM:617055
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormality of the hand, Hypoplasia of the radius, Abnormal foot morpholo... ORPHA:75508
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,... OMIM:311895
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Auriculocondylar Syndrome 2A
Short mandibular rami, Macrocephaly, Respiratory distress, Dental crowding, Mandibular condyle hy... OMIM:614669
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Gingival fibromatosis, Respiratory distress, Gingival overgrowth, Dyspnea, Mandibul... ORPHA:1832
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Epiphyseal stippling, High palate, Stippled calcification proximal humera... OMIM:222765
Bullous Dystrophy, Hereditary Macular Type
Short finger, Death in childhood, Microcephaly, Acrocyanosis, Tapered finger OMIM:302000
Rhizomelic Chondrodysplasia Punctata, Type 5
Pes cavus, Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Cox... OMIM:616716
Lethal Recessive Chondrodysplasia
Respiratory distress, Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb un... ORPHA:1423
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Microg... OMIM:249710
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Micrognathia, Cl... ORPHA:440354
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:184260
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Rhizomelia, Mandibular prognathia, Deformed humeral heads, Short metacarpal, Coxa va... ORPHA:2831
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Limitati... OMIM:211350
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Autosomal Dominant Omodysplasia
Rhizomelia, Short palm, Micrognathia, Short humerus, Malar flattening, Long philtrum, Short 1st m... ORPHA:93328
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Spondyloepiphyseal Dysplasia Congenita
Increased head circumference, Limited elbow movement, Reduced bone mineral density, Genu valgum, ... ORPHA:94068
Femoral-Facial Syndrome
Orofacial cleft, Abnormal fibula morphology, Preaxial foot polydactyly, Abnormal pelvic girdle bo... ORPHA:1988
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Delayed eruption of teeth, Resp... ORPHA:166272
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p... OMIM:156510
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short metacarpal, Short lo... ORPHA:56304
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Sho... OMIM:186500
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Cutaneous photosensitivity, Microcephaly, Micrognathia, Cleft palate, Arthrog... OMIM:616570
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Death in childhood, Respiratory distress, Ti... OMIM:613848
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Microcephaly, Short... ORPHA:2491
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Microcephaly, Ab... OMIM:612447
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Short ribs, Decreased skull ossification, Multiple prenatal fractu... OMIM:616897
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Laryngotra... ORPHA:1190
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Limited elbow extension, Narrow greater sciatic notch, Macrocephaly, Rhizomelia, Ulnar bowing, Fl... OMIM:100800
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Thin vermilion border, Retrognathia, Clinodactyly of the 5th finger, Shoulder... OMIM:619110
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Kniest Dysplasia
Rhizomelia, Tracheomalacia, Abnormal cartilage collagen, Delayed epiphyseal ossification, Splayed... OMIM:156550
Neuralgic Amyotrophy
Narrow mouth, Scapular winging, Upper limb amyotrophy, Bifid uvula, Cleft palate, Syndactyly, Acr... ORPHA:2901
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Cleft hard palate, Fixed elbow flexion, Genu valgum, Rhizomelia, Delayed epip... ORPHA:166016
Congenital Disorder Of Glycosylation, Type Iu
Secondary microcephaly, Respiratory distress, High palate, Death in infancy, Congenital contractu... OMIM:615042
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla ORPHA:2776
Aase-Smith Syndrome
Abnormal hip bone morphology, Slender finger, Joint stiffness, Camptodactyly of finger, Cleft pal... ORPHA:916
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Amelia, Cleft upper lip, Foot oligodactyly, Short femur, B... OMIM:601357
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Respiratory distress, Microcephaly, Micrognathia, Wide mouth, Clinodactyly OMIM:300934
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Limitation of joint mobility, Respiratory distress ORPHA:2680
Absent or minimally ossified vertebral bodies, Respiratory distress, Missing ribs, Cleft palate, ... ORPHA:66637
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Macrocephaly, Increased bone mineral density, Premature loss of teeth, Relative macro... OMIM:239000
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Sing... OMIM:227270
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of ... ORPHA:3320
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Melnick-Needles Syndrome
Limited elbow extension, Stillbirth, Genu valgum, Osteolytic defects of the phalanges of the hand... OMIM:309350
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Short long bone, Death in adolescence, Bowing of the long bones... OMIM:619751
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Camptodactyly, Split hand, Hypoplasia of the maxilla, Cleft palate, Mi... OMIM:246560
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short philtrum, Respiratory distress, Progressi... OMIM:607143
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Macrocephaly, High palate, Tapered finger, Microcephaly, Camptodactyly of finger, Short palm, Hyp... ORPHA:85279
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Retrognathia, 11 pairs of ribs, High palate, Camptodactyly, Prenatal death, M... OMIM:618393
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic n... OMIM:256050
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, High, narrow palate, Glossoptosis, Tapered finger, Microcephaly, Camptodact... ORPHA:3201
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Macrocephaly, Aplasi... ORPHA:1307
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal hip bone morphology... ORPHA:2631
Moebius Syndrome
Radial deviation of finger, Respiratory distress, High palate, Abnormality of the dentition, Camp... OMIM:157900
Phosphoserine Aminotransferase Deficiency
Secondary microcephaly, Apnea, Cyanotic episode, Death in infancy OMIM:610992
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl... ORPHA:56305
Ivic Syndrome
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... OMIM:147750
Catel-Manzke Syndrome
Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Bifid uvula, Short humerus, Jo... OMIM:616145
Cerebrocostomandibular Syndrome
Glossoptosis, Microcephaly, Short humerus, Long philtrum, 10 pairs of ribs, Calcaneal epiphyseal ... OMIM:117650
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor... ORPHA:90650
Codas Syndrome
Pes valgus, Genu valgum, Proximal placement of thumb, Rectovaginal fistula, Delayed eruption of t... OMIM:600373
Auriculocondylar Syndrome 4
Narrow mouth, Glossoptosis, Micrognathia, Apnea, Cleft palate OMIM:620457
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Auriculocondylar Syndrome
Macrocephaly, Abnormality of the temporomandibular joint, Respiratory distress, Dental crowding, ... ORPHA:137888
Congenital Disorder Of Glycosylation, Type Ie
Secondary microcephaly, High, narrow palate, Ankle flexion contracture, Respiratory distress, Upp... OMIM:608799
Primary Pulmonary Hypoplasia
Patellar hypoplasia, Microcephaly, Hypoxemia, Micrognathia, Cleft palate, Apnea, Tachypnea, Cyanosis ORPHA:2257
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Microcephaly, Camptodactyly of finger, Micrognathia, Bifid u... ORPHA:2521
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis, Diffuse palmoplantar hyperkeratosis ORPHA:86918
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Macrocephaly, Short hallux, Exagg... ORPHA:2662
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Toe syndactyly OMIM:183700
Pelviscapular Dysplasia
Macrocephaly, Abnormality of the joint spaces of the elbow, Elbow flexion contracture, Hypoplasti... ORPHA:93333
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Short humerus, ... OMIM:218330
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Proximal placement of thumb, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Hand po... OMIM:314390
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Equinovarus deformity, Ankle flexion contracture, Respiratory distress, Elbow... ORPHA:1143
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Short long bone, Tooth agenesis, Flattened epiphysis, Joint hypermobility, Coxa valga, Small epip... OMIM:618363
Maxillonasal Dysplasia
Mandibular prognathia, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Aplasia... ORPHA:1248
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo... ORPHA:93307
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of... OMIM:607078
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Abnormality o... OMIM:300244
Congenital Myopathy 10A, Severe Variant
Respiratory distress, High palate, Camptodactyly of finger, Cleft palate, Talipes equinovarus OMIM:614399
Aarskog-Scott Syndrome
Everted lower lip vermilion, Long philtrum, Joint hypermobility, Abnormality of the dentition, Sh... ORPHA:915
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Genu valgum, Irregular epiphyses of the metacarpals, Hitchhiker thumb, S... OMIM:614078
Restrictive Dermopathy 2
Rectal prolapse, Respiratory distress, Short clavicles, Overtubulated long bones, Hypoplastic fac... OMIM:619793
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, High palate, Limitation of joint mobil... ORPHA:3098
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Joint stiffness, Abnormal oral frenulum morphology, Mesomelia, Long ph... ORPHA:2496
Jackson-Weiss Syndrome
Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Man... ORPHA:1540
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Paget Disease Of Bone 2, Early-Onset
Premature loss of teeth, Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing,... OMIM:602080
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Micromelia, Micrognathia, ... ORPHA:93329
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Lujan-Fryns Syndrome
Macrocephaly, Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Hypopla... ORPHA:776
Orofaciodigital Syndrome Type 10
Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso... ORPHA:2756
Pfeiffer Syndrome Type 2
Deviation of the thumb, Tracheomalacia, Short hallux, Finger syndactyly, Respiratory distress, Hi... ORPHA:93259
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder mor... ORPHA:1350
Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Joint stif... ORPHA:750
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Glossoptosis, Micrognathia, Cleft palate, Osteoarthritis, Malar f... ORPHA:166100
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Cleft palate, Abnormal morphology of ulna, A... ORPHA:971
Hypoglossia With Situs Inversus
Respiratory distress, Narrow mouth, High palate, Micrognathia, Microglossia, Hypodontia OMIM:612776
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop... ORPHA:950
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Respiratory distress, Paradoxical respiration, High palate, Absent A... OMIM:620011
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Macrocephaly, Excessive wrinkled skin, Short greater sciatic notc... ORPHA:1860
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Pes planus, Mandibular prognathia, High palate, Everted lower lip vermilion, Finger joint contrac... OMIM:620494
Nager Syndrome
Abnormal palate morphology, Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of ... ORPHA:245
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Flattened epiphysis, J... OMIM:612350
Omodysplasia 1
Limited elbow extension, Limited knee flexion/extension, Limited elbow flexion/extension, Fibular... OMIM:258315
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metacarpal osteolysis, Wrist swelling, Ankle swelling, Pes cavus, Carpal osteolysis, ... OMIM:166300
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Slend... OMIM:608154
Stickler Syndrome Type 1
Long philtrum, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Hypoplasia... ORPHA:90653
Short Stature, Brussels Type
Macrocephaly, Calcification of cartilage, Microretrognathia, Delayed epiphyseal ossification ORPHA:2867
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Microcepha... OMIM:170390
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Bifid uvula, Absent thumb, Short humer... OMIM:218600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Macrocephaly, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxi... ORPHA:397973
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Respiratory distress ORPHA:171703
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Alfadhel Syndrome
Thin vermilion border, Retrognathia, Short philtrum, Nasal flaring, Microcephaly, Smooth philtrum... OMIM:620655
Microphthalmia, Syndromic 8
Orofacial cleft, Premature skin wrinkling, Mandibular prognathia, Split foot, Cleft upper lip, Mi... OMIM:601349
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening OMIM:613857
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Hypopl... OMIM:607323
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Auriculocondylar Syndrome 1
Macrocephaly, Dental malocclusion, Anterior open-bite malocclusion, Dental crowding, Mandibular c... OMIM:602483
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Rocker bottom foot, Respiratory distress, High palate, Congenital hip dislocation, Mu... OMIM:271225
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo... ORPHA:2741
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D... OMIM:620099
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Long philtrum, Craniosynostosi... OMIM:166250
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ... OMIM:210710
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, High palate... ORPHA:2632
Oculocerebrofacial Syndrome, Kaufman Type
Thin vermilion border, High, narrow palate, Retrognathia, Long foot, Short philtrum, Respiratory ... ORPHA:2707
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Decreased cranial base ossification, Macrocephaly, Rhizomelia, Severe limb shortening... OMIM:151210
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral fusion, Proximal placement of th... OMIM:142900
Orofaciodigital Syndrome Ii
Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Postaxial hand pol... OMIM:252100
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal... OMIM:183900
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Broad thumb, Mesomelia, Wide mouth, Short distal phalanx of finger, Long philtru... OMIM:616331
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Hypoplasia of the ulna, Type E brachydactyly, Delayed pubic bone ossific... ORPHA:1856
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Aganglionic megacolon, Radial club hand, Triph... ORPHA:959
Agnathia-Otocephaly Complex
Tracheomalacia, Respiratory distress, Narrow mouth, Mandibular aplasia, Micrognathia, Cleft palat... OMIM:202650
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Macrocephaly, Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the hume... ORPHA:1275
Ulnar-Mammary Syndrome
Stiff elbow, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd meta... OMIM:181450
Tetrasomy 5P
Macrocephaly, Clinodactyly of the 5th finger, Short hallux, Respiratory distress, High palate, Lo... ORPHA:3309
Frontonasal Dysplasia 1
Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Po... OMIM:136760
Meier-Gorlin Syndrome 1
Absent sternal ossification, Short ribs, Microdontia, Death in infancy, Microcephaly, Joint hyper... OMIM:224690
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Long foot, Macrocephaly, Mandibular prognathia, High palate, Hypoplasia of the maxilla, Long palm OMIM:300676
Ulbright-Hodes Syndrome
Thin vermilion border, Hypoplasia of the radius, Fibular aplasia, Respiratory distress, Long uppe... ORPHA:3404
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, High palate, Triceps weakness, Abnormality of the musculature of the upper li... ORPHA:98913
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Proximal placement of thumb, Tracheomalacia, Respiratory distress, Microcephaly, Short palm, Down... OMIM:217980
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cleft hard palate, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes, Delay... OMIM:300990
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
20P12.3 Microdeletion Syndrome
Macrocephaly, Narrow mouth, Broad thumb, Hypoplasia of the maxilla, Malar flattening, Long philtr... ORPHA:261295
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Abnormal palate morphology, Increased bone mineral density, Abnor... ORPHA:1798
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Respiratory distress, Progressive microcephaly, High palate, Micrognathia, Dental mal... ORPHA:329178
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Abnormality of t... ORPHA:93316
Geroderma Osteodysplasticum
Osteopenia, Progeroid facial appearance, Premature skin wrinkling, Periodontitis, Hyperextensibil... OMIM:231070
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly, High palate, Microcepha... ORPHA:3304
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Death in infancy, Microcephaly, Arachnodactyly, Micrognathia, Cleft palate, Malar f... ORPHA:93946
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Occipital Horn Syndrome
Limited elbow extension, Long philtrum, Genu valgum, Short clavicles, High palate, Limited knee e... OMIM:304150
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Dental crowding,... OMIM:101600
Robinow Syndrome, Autosomal Recessive 2
Triangular mouth, Cleft soft palate, Sandal gap, Gingival overgrowth, Prominent fingertip pads, R... OMIM:618529
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Microcephaly, Joint contracture, Respiratory distress OMIM:617977
Classic Glucose Transporter Type 1 Deficiency Syndrome
Progressive microcephaly, Cyanosis, Central apnea ORPHA:71277
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Micrognathia, Respiratory distress OMIM:300580
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Long philtrum, Joint hypermobility, Cone-shaped epiphysis, Sh... ORPHA:439822
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cyanotic episode, Bilateral talipes equinovarus, Micrognathia, Limb jo... ORPHA:284417
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Cohen Syndrome
High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Short philtrum, Single transv... OMIM:216550
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness, fatigue, stress, Sud... OMIM:254210
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Respiratory distress, Abnormality of the philtrum, Dyspnea, Missi... ORPHA:2759
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Hereditary Methemoglobinemia
Microcephaly, Lip discoloration, Exertional dyspnea, Cyanosis ORPHA:621
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin vermilion border, Short philtrum, Respiratory distress, Microcephaly, Micrognathia ORPHA:261304
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Respiratory distress, High palate, Death in infancy, Neonatal death, Joint hypermob... OMIM:300219
Say Syndrome
Ulnar deviation of the 3rd finger, Microcephaly, Micrognathia, Cleft palate, Short distal phalanx... OMIM:181180
Choanal Atresia
Polydactyly, Respiratory distress, Tracheomalacia, Craniosynostosis, Cyanosis, Chronic sinusitis ORPHA:137914
Ear-Patella-Short Stature Syndrome
Retrognathia, Microcephaly, Bifid uvula, Abnormal epiphysis morphology, Joint hypermobility, Cran... ORPHA:2554
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate, Natal tooth OMIM:217150
Hypoplastic iliac wing, Acromelia, Mesomelia, Joint hypermobility, Delayed eruption of primary te... ORPHA:763
Waardenburg Syndrome Type 3
Tracheomalacia, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal b... ORPHA:896
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs... OMIM:274000
Pfeiffer Syndrome Type 3
Tracheomalacia, Short hallux, Finger syndactyly, Respiratory distress, High palate, Limitation of... ORPHA:93260
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypoplastic iliac win... OMIM:114290
Greenberg Dysplasia
Retrognathia, Short ribs, Short long bone, Decreased skull ossification, Short metacarpal, Multip... OMIM:215140
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Orofacial cleft, Respiratory distress, Microcephaly, Short humerus, Apnea, Flexion c... ORPHA:17
Martsolf Syndrome 1
Slender ulna, Short metacarpal, Microcephaly, Broad femoral neck, Long philtrum, Joint hypermobil... OMIM:212720
Mandibulofacial Dysostosis, Guion-Almeida Type
Proximal placement of thumb, Esophageal atresia, Respiratory distress, Progressive microcephaly, ... OMIM:610536
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, High palate, Short ri... ORPHA:1145
Mitochondrial Pyruvate Carrier Deficiency
Long philtrum, Progressive microcephaly, Thin upper lip vermilion, Respiratory distress OMIM:614741
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Thick lower lip vermilion, Clinodactyly of the 5th finger, Joint contracture of the 5th finger, P... OMIM:614407
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Widely spaced teeth, Bowed humerus, Short lingual frenulum, Short long bone, Microdontia, Short h... OMIM:619479
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,... OMIM:605282
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Limitation of joint mobility, Abnormality of the dentition, Microc... ORPHA:178303
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... ORPHA:93284
Crisponi/Cold-Induced Sweating Syndrome 1
Limited elbow extension, Retrognathia, Radial deviation of finger, Elbow flexion contracture, Hig... OMIM:272430
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Macrocephaly, Intestinal malrotation, Microcephaly, Wide mouth, Joint hypermobility,... OMIM:617798
Radio-Renal Syndrome
Hypoplasia of the radius, High, narrow palate, Retrognathia, Respiratory distress, Dyspnea, Micro... ORPHA:3015
Arthrogryposis, Distal, Type 3
Single transverse palmar crease, High palate, Ulnar deviation of the hand or of fingers of the ha... OMIM:114300
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Respiratory distress, Short ribs, Fractured rib, Femora... OMIM:618188
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Dental crowding, Short ribs, Femoral bowing, Everted lower l... OMIM:600920
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Aglossia, Pu... OMIM:241310
Craniofacial-Deafness-Hand Syndrome
Abnormality of the wrist, Narrow mouth, Hypoplasia of the maxilla, Camptodactyly of finger, Ulnar... ORPHA:1529
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death OMIM:615524
Orofaciodigital Syndrome X
Fibular aplasia, Retrognathia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen... OMIM:165590
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Pos... OMIM:201000
Congenital Myasthenic Syndrome
Pes cavus, Distal lower limb muscle weakness, Cyanosis, Sudden episodic apnea, High palate, Apnei... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Pes cavus, Distal lower limb muscle weakness, Cyanosis, Sudden episodic apnea, High palate, Apnei... ORPHA:98914
Amish Lethal Microcephaly
Cleft soft palate, Limitation of joint mobility, Decreased skull ossification, Osteoporosis, Deat... ORPHA:99742
Roberts-Sc Phocomelia Syndrome
Radial deviation of finger, Wrist flexion contracture, Microcephaly, Short humerus, Absent thumb,... OMIM:268300
Coffin-Lowry Syndrome
Everted lower lip vermilion, Short metacarpal, Microcephaly, Wide mouth, Short distal phalanx of ... ORPHA:192
Microcephaly-Micromelia Syndrome
Oligodactyly, Narrow mouth, Missing ribs, Micromelia, Humeroradial synostosis, Forearm undergrowt... OMIM:251230
Stüve-Wiedemann Syndrome
Flexion contracture of finger, Elbow flexion contracture, Abnormality of the dentition, Osteoporo... ORPHA:3206
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Hypodontia, Metacarpophalangeal joint contracture, Microcephaly, Wrist hype... ORPHA:544503
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... ORPHA:3344
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Respiratory distress, Short ribs, Relative macrocephaly, Hypoplastic il... OMIM:617895
Aarskog-Scott Syndrome
Pes planus, Radial deviation of finger, Hypodontia, Hyperextensibility of the finger joints, Shor... OMIM:305400
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Short lower limbs, Shor... ORPHA:420794
Cleidocranial Dysplasia
Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal me... ORPHA:1452
Absent in utero rib ossification, Hammertoe, Tracheomalacia, Respiratory distress, Absent in uter... OMIM:608022
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Gingival overgrowth, Rhizomelic arm shortening, Short metacarpal, Shor... ORPHA:508542
Bardet-Biedl Syndrome 16
Polydactyly, Respiratory distress OMIM:615993
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Absent ossification of capital femoral epiphysis, Delayed epiphyseal ossifi... ORPHA:226313
Meier-Gorlin Syndrome 5
Slender long bone, Microcephaly, Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the capit... OMIM:613805
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Macrocephaly, Cubitus valgus, Talipes calcaneovarus, Mandibular prognathia, High palate, Furrowed... OMIM:300534
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu... OMIM:164900
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Retrognathia, Abnormal foot morphology, Gingival overgrowth, 2-3 toe syndactyly, H... OMIM:618186
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly, Hypoplasia of the maxilla, Lim... OMIM:619142
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Micrognathia, Bifid uvula, Cleft palate, Respiratory distress OMIM:606164
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Wiedemann-Rautenstrauch Syndrome
Short humerus, Hypoplastic facial bones, Long philtrum, Long toe, Clinodactyly, Genu varum, Long ... OMIM:264090
Orofaciodigital Syndrome Xix
Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro... OMIM:620107
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, High palate, Respiratory distress ORPHA:254864
Ollier Disease
Abnormal metaphysis morphology, Micromelia, Joint stiffness, Abnormal cartilage morphology, Multi... ORPHA:296
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis, Hyperventilation ORPHA:91359
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Long philtrum, Joint hypermobi... ORPHA:198
Arterial Tortuosity Syndrome
Rocker bottom foot, Arachnodactyly, Joint hypermobility, Craniosynostosis, Coxa valga, Hip disloc... ORPHA:3342
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Lowry-Maclean Syndrome
Osteopenia, Retrognathia, High, narrow palate, Midgut malrotation, Single transverse palmar creas... ORPHA:2409
Cleft Palate, Deafness, And Oligodontia
Sandal gap, Cleft soft palate, Short hallux, Agenesis of permanent teeth, Oligodontia of primary ... OMIM:216300
Gaucher Disease Type 2
Abnormal pattern of respiration, Flexion contracture, Respiratory distress ORPHA:77260
Tarp Syndrome
Rocker bottom foot, Cyanosis, Talipes equinovarus, Finger syndactyly, Single transverse palmar cr... ORPHA:2886
Double Outlet Right Ventricle
Narrow mouth, Intestinal malrotation, Tachypnea, Cleft palate, Abnormality of cartilage of extern... ORPHA:3426
Orofaciodigital Syndrome Iv
Short finger, Short tibia, Tongue nodules, High palate, Foot polydactyly, Postaxial polydactyly, ... OMIM:258860
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Long philtrum, Joint hypermobility, Long toe, Short 5th finger, Abnormality o... ORPHA:508488
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Abnormality of the humerus, Camptodactyly of finger,... ORPHA:1794
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Flexion contracture of the 2nd toe, Flexion contractur... ORPHA:2712
Schneckenbecken Dysplasia
Stillbirth, Macrocephaly, Snail-like ilia, Short ribs, Short long bone, Flat acetabular roof, Dum... OMIM:269250
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Respiratory distress, Microretrognathia, Adducted thumb, Primary microcephaly ORPHA:89844
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Surfactant Metabolism Dysfunction, Pulmonary, 1
Clubbing, Dyspnea, Death in infancy, Neonatal death, Apnea, Tachypnea, Cyanosis OMIM:265120
Myopathy And Diabetes Mellitus
Respiratory distress, Achilles tendon contracture, Shoulder girdle muscle weakness, Hyporeflexia ... ORPHA:2596
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath... OMIM:616367
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Progressive microcephaly, Widely-spaced incisors, Hypoplasia of the maxilla, Smooth philtrum, Thi... OMIM:618737
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Macrocephaly, Abnormal cartilage matrix, Flared metaphysis, Mesomeli... ORPHA:2347
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macrocephaly, Short philtrum, Hyperextensibility of the finger joints, Dental crowding, High pala... OMIM:309520
X-Linked Intellectual Disability, Sutherland-Haan Type
Microcephaly, Mandibular prognathia, Anal atresia, Hypoplasia of the maxilla ORPHA:93950
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,... ORPHA:2839
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cyanosis, Respiratory distress OMIM:263000
Wiedemann-Rautenstrauch Syndrome
Retrognathia, Relative macrocephaly, Hypoplastic vertebral bodies, Short humerus, Joint hypermobi... ORPHA:3455
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Flexion contrac... ORPHA:485
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
W Syndrome
Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Camptodactyly, Metatarsus adductus, Clinodacty... ORPHA:2804
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
High Altitude Pulmonary Edema
Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis ORPHA:330012
Premature Aging Syndrome, Penttinen Type
Retrognathia, Tibial bowing, Flexion contracture of finger, Short distal phalanx of finger, Osteo... OMIM:601812
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Hypoventilation, Respiratory distress, High palate, Micrognathia, Apnea, Tented uppe... ORPHA:314655
Van Maldergem Syndrome 1
Joint hypermobility, Clinodactyly, Short 4th metacarpal, Camptodactyly, Short fourth metatarsal, ... OMIM:601390
Craniolenticulosutural Dysplasia
Long philtrum, Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High pa... ORPHA:50814
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Long philtrum, Thin vermilion border, Progressive microcephaly, High palate, Increased laxity of ... ORPHA:481152
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Abnormal foot morphology, Hypoplastic iliac wing, Sh... OMIM:200610
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesis imperfecta,... ORPHA:536467
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, Osteopetrosis, High, narrow palate, Macrocephaly, D... ORPHA:2780
Mandibulofacial Dysostosis-Microcephaly Syndrome
Secondary microcephaly, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening, ... ORPHA:79113
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe s... OMIM:614701
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Respiratory distress, Clubbing, Dyspnea, Death in infancy, Hypoxemia, Neonata... OMIM:610921
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Respiratory distress, Mandibular prognathia, High palate, Death in infancy, J... OMIM:620278
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Purpura, Respiratory distress, Petechiae, Narrow mouth... OMIM:608013
Cohen Syndrome
Abnormal hip bone morphology, Sandal gap, Tooth agenesis, Microcephaly, Arachnodactyly, Joint hyp... ORPHA:193
Short Chain Acyl-Coa Dehydrogenase Deficiency
Microcephaly, Respiratory distress ORPHA:26792
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, High palate, Narrow mouth, Anal atres... ORPHA:989
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Palmoplantar cutis gyrata, Respiratory distress, Narrow mouth, Tooth agenesis, Cle... ORPHA:1555
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Delayed eru... OMIM:257850
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Tapered toe, Talipes, Triangular mouth, Short philtrum, Shoulder flexion contractur... OMIM:620369
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles OMIM:264270
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Immunodeficiency 95
Respiratory distress OMIM:619773
Bronchopulmonary Dysplasia
Respiratory distress, Tracheobronchomalacia, Dyspnea, Hyperoxemia, Central apnea ORPHA:70589
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Thick vermilion border, Brachydactyly, Hallux valgus OMIM:617180
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Long philtrum, Pes cavus, Respiratory distress, Abnormality of the dentition, Anal atresia, Short... OMIM:300968
Laryngeal Abductor Paralysis
Microcephaly, Cyanosis, Talipes equinovarus OMIM:150260
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Myhre Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Gingival cleft, Craniofacial hyperostosis,... ORPHA:2588
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Swollen lip, Erythema, Respiratory distress ORPHA:100057
Prader-Willi Syndrome Due To Translocation
Retrognathia, Everted lower lip vermilion, Microcephaly, Bifid uvula, Wide mouth, Overlapping toe... ORPHA:177907
Multiple Osteochondromas
Intestinal obstruction, Abnormal femur morphology, Limitation of knee mobility, Deformed forearm ... ORPHA:321
Pitt-Hopkins Syndrome
Narrow foot, Microcephaly, Wide mouth, Aganglionic megacolon, Short philtrum, Tooth malposition, ... ORPHA:2896
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Oligodontia, Mandibular prognathia, Microdontia, Hy... OMIM:601216
Shprintzen-Goldberg Syndrome
Osteopenia, Abnormal metaphysis morphology, High, narrow palate, Genu valgum, Retrognathia, Bowin... ORPHA:2462
Meckel Syndrome 14
Retrognathia, Talipes, Postaxial hand polydactyly, Bowing of the long bones, Decreased calvarial ... OMIM:619879
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Sandal gap, Respiratory distress, Prominent fingertip pads, High palate, Smo... OMIM:612863
Craniofaciofrontodigital Syndrome
Osteopenia, Long philtrum, Premature skin wrinkling, Respiratory distress, Gingival overgrowth, P... ORPHA:363705
Craniosynostosis 2
Supernumerary tooth, Triphalangeal thumb, Cleft soft palate, Unicoronal synostosis, Bicoronal syn... OMIM:604757
Distal Xq28 Microduplication Syndrome
Thick lower lip vermilion, Dental crowding, Short lingual frenulum, High palate, Metatarsus adduc... ORPHA:293939
Acrodysostosis 1 With Or Without Hormone Resistance
Short metatarsal, Delayed eruption of teeth, Epiphyseal stippling, Cone-shaped epiphyses of the p... OMIM:101800
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Angulated humerus, Short long bone, Bowing of the long bones, Tooth agene... OMIM:616229
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Talipes equinovarus, Tracheomalacia, Absent sternal ossification, Slender lo... OMIM:613803
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Broad thumb, Micrognathia, Smooth philtrum, Brachydactyly OMIM:614526
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, High palate, Hypoplasia of the maxilla, Long fingers, Flexion contracture, Ta... OMIM:218000
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Narrow palate, Pes planus, Genu valgum, Dislocated radial head, Genu recurvatum, High... OMIM:182212
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus, Respiratory distress OMIM:620306
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Calf muscle hypertrophy, Triceps weakness, Dyspnea, Microcephaly, Thigh hyp... ORPHA:86812
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Asbestos Intoxication
Exertional dyspnea, Clubbing of fingers, Dyspnea, Hypoxemia, Cyanosis, Oxygen desaturation on exe... ORPHA:2302
Microcephaly-Capillary Malformation Syndrome
Progressive microcephaly, Hypoplasia of the maxilla, Cleft palate, Brachydactyly, Short distal ph... OMIM:614261
X-Linked Centronuclear Myopathy
High palate, Respiratory distress ORPHA:596
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Retrognathia, Broad ... ORPHA:2636
Treacher-Collins Syndrome
Retrognathia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Multiple encho... ORPHA:861
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Triangular mouth, Respiratory distress, Mandibular prognathi... ORPHA:98915
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, High palate, Tented upper lip vermilion, Thick vermilion border, Flexion co... OMIM:619383
Beare-Stevenson Cutis Gyrata Syndrome
Limited elbow extension, Narrow palate, Respiratory distress, Gingival overgrowth, High palate, N... OMIM:123790
Marshall Syndrome
Thick lower lip vermilion, Genu valgum, High palate, Abnormality of the dentition, Hypoplastic fr... ORPHA:560
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Van Maldergem Syndrome 2
Joint hypermobility, Clinodactyly, Short 4th metacarpal, Short fourth metatarsal, Ulnar deviation... OMIM:615546
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Abnormal metacarpal morphology, Hypoplasia of the maxilla, Malar flat... ORPHA:93262
Saethre-Chotzen Syndrome
Narrow palate, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tripha... ORPHA:794
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Weill-Marchesani Syndrome 1
Narrow palate, Broad phalanges of the hand, Tooth malposition, Broad metacarpals, Broad metatarsa... OMIM:277600
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Conical tooth, Narrow mouth, Microdontia,... OMIM:129400
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Clinodactyly of the 5th finger, Biparietal narrowing, Hypoplasia of the maxilla, Thick vermilion ... ORPHA:228396
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Retrognathia, Gingival cleft, Postaxial hand polydactyly, Micromelia, Micrognathia, Cleft palate,... ORPHA:2189
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Postnatal macrocephaly, Retinal telangiectasia, Mandibular prognathia, Microcephaly... OMIM:620157
Succinic Acidemia
Respiratory distress OMIM:600335
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Pachyonychia Congenita
Advanced eruption of teeth, Palmoplantar keratoderma, Respiratory distress, Angular cheilitis, Na... ORPHA:2309
Trisomy 8Q
Orofacial cleft, Deep palmar crease, Bone cyst, Non-midline cleft of the upper lip, High palate, ... ORPHA:1752
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Abnormality of primary teeth, Incisor macrodontia, High palate, Microcephal... ORPHA:438216
Birk-Barel Syndrome
Short philtrum, Single transverse palmar crease, High palate, Reduced subcutaneous adipose tissue... OMIM:612292
Crane-Heise Syndrome
Finger syndactyly, Decreased skull ossification, Abnormally ossified vertebrae, Joint stiffness, ... ORPHA:1512
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Abnormal cortical bone morph... ORPHA:2769
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Pes planus, Hypoplasia of the maxilla OMIM:618302
Nablus Mask-Like Facial Syndrome
Secondary microcephaly, Retrognathia, Sandal gap, Short hallux, Single transverse palmar crease, ... OMIM:608156
Congenital Fibrinogen Deficiency
Cyanosis, Clubbing of fingers, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous... ORPHA:335
Moebius Syndrome
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:570
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Midgut malrotation, Short lingual frenulum, Osteoporosis, Cleft palate, Cyanosis ORPHA:2326
Congenital Pulmonary Lymphangiectasia
Cyanosis, Respiratory distress ORPHA:2414
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Bifid uvula, Wide mouth, Symphalangism affecting the phalanges of the... ORPHA:2658
Phocomelia, Schinzel Type
Hypoplasia of the radius, High, narrow palate, Fibular aplasia, Abnormal tibia morphology, Aplasi... ORPHA:2879
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory distress, Slender finger, Microcephaly, Pes planus OMIM:250940
Meier-Gorlin Syndrome 4
Thick lower lip vermilion, Slender long bone, Genu recurvatum, Narrow mouth, Microcephaly, Hypopl... OMIM:613804
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, Single transverse palmar c... OMIM:617412
Breath-Holding Spells
Cyanosis OMIM:607578
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Macrocephaly, Rhizomelia, Respiratory distress, Tibial bowing, Femoral bowing, Mesomelia, Neonata... OMIM:616482
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:1302
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Tachypnea, Cyanosis, Nasal flaring ORPHA:70587
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling of toe phalanges, Epiphyseal stippling, Calcaneal epiphyseal stippling, Cent... ORPHA:79345
Cowden Syndrome 5
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the maxilla, M... OMIM:615108
Hutchinson-Gilford Progeria Syndrome
Retrognathia, Reduced bone mineral density, Exertional dyspnea, Dental crowding, Relative macroce... ORPHA:740
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Relative macroce... OMIM:616300
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Narrow mouth, Microcephaly, Micrognathia, Bifid uvula, 3-4 finger c... OMIM:164220
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Exertional dyspnea, Cyanosis OMIM:250800
Raine Syndrome
Subperiosteal bone formation, Microdontia, Death in infancy, Microcephaly, Wide mouth, Increased ... OMIM:259775
Microcephaly 30, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Cleft soft palate, Pierre-Robin sequence, Primary microcephaly, T... OMIM:620183
Apert Syndrome
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Fi... ORPHA:87
Branchiogenic-Deafness Syndrome
Abnormal foot morphology, Trismus, Short distal phalanx of finger, Submucous cleft hard palate, B... OMIM:609166
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla OMIM:300266
Congenital Diaphragmatic Hernia
Intestinal malrotation, Hypoxemia, Respiratory distress ORPHA:2140
Weill-Marchesani Syndrome 2
Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the... OMIM:608328
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, Oligodontia, 2-3 toe s... ORPHA:37553
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Narrow mouth, Mandibular aplasia, Microglossia ORPHA:990
Microlissencephaly-Micromelia Syndrome
Bilateral single transverse palmar creases, Secondary microcephaly, 11 pairs of ribs, Respiratory... ORPHA:50810
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist... OMIM:609465
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Oromandibular Dystonia
Abnormality of the temporomandibular joint, Abnormal lip morphology, Abnormal mandible morphology... ORPHA:93958
Branchioskeletogenital Syndrome
Thin vermilion border, Short philtrum, Periorbital wrinkles, Rootless teeth, Premature loss of te... ORPHA:1299
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Clubbing, Dyspnea, Cyanosis OMIM:610910
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short long bone, Relative macrocephaly, Metaphyseal irregularity, Joint hypermobi... OMIM:618019
Esophageal Atresia
Cyanosis, Respiratory distress, Laryngotracheomalacia, Barrett esophagus, Esophagitis, Tracheoeso... ORPHA:1199
Dravet Syndrome
Cyanotic episode, Limited knee extension, Tibial torsion, Pes planus, Pes valgus ORPHA:33069
Loeys-Dietz Syndrome 5
Retrognathia, Flexion contracture of toe, Congenital finger flexion contractures, Arachnodactyly,... OMIM:615582
Anaplastic Thyroid Carcinoma
Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Respiratory distress ORPHA:142
Idiopathic Pulmonary Fibrosis
Acrocyanosis, Orthodeoxia, Exertional dyspnea, Clubbing of fingers ORPHA:2032
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue, Microcephaly, Hand clenching, Apnea, Cyanosis OMIM:619580
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Respiratory distress ORPHA:673
Cowden Syndrome 6
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the maxilla, M... OMIM:615109
Myhre Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Joint stiffness, Microcephal... OMIM:139210
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Short femur, Short humerus, Tapered finger OMIM:618367
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Joint stiffness, Acrocyanosis ORPHA:2400
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Steatorrhea, Metaphyseal sclerosis, Respiratory distress, Irregular... OMIM:260400
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Short tibia, Short ribs, Femoral... OMIM:620076
Congenital Disorder Of Glycosylation, Type Ix
Microcephaly, Death in childhood, Respiratory distress OMIM:615597
Gorlin-Chaudhry-Moss Syndrome
Abnormal foot morphology, Abnormal metacarpal morphology, Oligodontia, Abnormality of the dentiti... ORPHA:2095
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Respiratory distress, High palate, Death in infancy OMIM:604377
Osteogenesis Imperfecta, Type Xvii
Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Osteoporosis, Thin long bo... OMIM:616507
Crouzon Syndrome
Narrow palate, Hypoplasia of the maxilla, Multiple suture craniosynostosis ORPHA:207
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia, Short philtrum ORPHA:93945
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ... OMIM:272460
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Respiratory distress, Clubbing, Flared iliac wing, Microcephaly, Metaphyseal ... OMIM:617303
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Macrocephaly, Hypoplasia of the maxilla, Malar flattening, Coxa valga, Hip dislocation OMIM:109120
Developmental And Epileptic Encephalopathy 68
Microcephaly, Flexion contracture, Respiratory distress OMIM:618201
Severe Acute Respiratory Syndrome
Hypoxemia, Dyspnea, Respiratory distress ORPHA:140896
Cerebrofacioarticular Syndrome
Osteopenia, Caudal appendage, Anal stenosis, Tracheomalacia, Narrow mouth, Camptodactyly, Irregul... ORPHA:314679
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Unilateral cleft palate, Micrognathia, Unilateral cleft lip, Joint hypermobilit... OMIM:619122
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Retrognathia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypoplastic pelvis, Bila... OMIM:618022
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Respiratory distress ORPHA:240103
Saethre-Chotzen Syndrome
Narrow palate, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatars... OMIM:101400
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Epiphyseal stippling, Abnormal bone structure, Short metacarpal, Micro... ORPHA:86822
Coffin-Lowry Syndrome
Everted lower lip vermilion, Short metacarpal, Microcephaly, Cutis marmorata, Broad palm, Coxa va... OMIM:303600
Brown-Vialetto-Van Laere Syndrome 1