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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 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
preweaning lethality, complete penetrance Zfhx4em1(IMPC)J HOM   Early adult 0.00
decreased exploration in new environment Zfhx4em1(IMPC)J HET Early adult 6.60×10-07

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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 Forepaw

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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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 Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Combined SHIRPA and Dysmorphology

Images

3 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
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... ORPHA:141152
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Perching Syndrome
Respiratory distress, Cyanosis, High palate, Camptodactyly, Joint contracture OMIM:617055
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Neonatal respiratory dis... OMIM:602471
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus OMIM:600121
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Prominent superficial... ORPHA:75508
Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Upper airway obstruction, Cle... OMIM:261800
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... OMIM:311895
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Microcephaly, Asthma, Coxa vara, Contra... OMIM:616716
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... OMIM:108720
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Micrognathia, Microcephaly, Dyspnea, Gingival overgrowth, Gingival fibromat... ORPHA:1832
Auriculocondylar Syndrome 2A
Respiratory distress, Dental crowding, Apnea, Micrognathia, Narrow mouth, Microglossia, Dental ma... OMIM:614669
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis ORPHA:718
Omodysplasia 2
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fibular hypoplasia,... OMIM:164745
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Microcephaly, Flexion contracture, Submucous... OMIM:222765
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Tapered finger, Short finger, Death in childhood, Acrocyanosis OMIM:302000
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l... ORPHA:1423
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... ORPHA:94068
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate... OMIM:249710
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger,... OMIM:184260
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Devia... ORPHA:2831
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Mal... ORPHA:93328
Neuralgic Amyotrophy
Scapular winging, Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis ORPHA:2901
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Orofa... ORPHA:1988
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Prematu... OMIM:156510
Odontochondrodysplasia
Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Death in infancy, Micr... ORPHA:166272
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Osteogenesis Imperfecta, Type X
Osteopenia, Respiratory distress, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowi... OMIM:613848
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... ORPHA:2878
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Fibular hypoplasia, Aplasia/Hypo... OMIM:612447
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... ORPHA:2141
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Micrognathia, Multiple prenatal fractures, Decreased f... OMIM:616897
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, Abnormality of t... ORPHA:2491
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Microcephaly, Cleft palate, Talipes equinovarus, Arthrogryposis... OMIM:616570
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Death in infancy, ... OMIM:615042
Achondroplasia
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... OMIM:100800
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Camptodactyly of finger, Rocker botto... OMIM:619110
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... OMIM:612961
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Microcephaly, Asthma, Tachypnea, Pn... ORPHA:2257
Kniest Dysplasia
Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage ... OMIM:156550
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... ORPHA:1190
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Aase-Smith Syndrome
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl... ORPHA:916
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... OMIM:614399
Atelosteogenesis Type Iii
Micrognathia, Short tubular bones of the hand, Knee dislocation, High palate, Short tibia, Verteb... ORPHA:56305
Atelosteogenesis, Type Ii
Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chond... OMIM:256050
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Micrognathia, Microcephaly, Wide mouth, Widely spaced teeth, Clinodactyly OMIM:300934
Melnick-Needles Syndrome
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... OMIM:309350
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Cleft palate, Narrow pelvis bone, Absent or minimally ossifie... ORPHA:66637
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Relative mac... OMIM:239000
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin... OMIM:117650
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... OMIM:227270
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Amelia OMIM:601357
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short distal phalanx of finger ORPHA:2776
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal ga... OMIM:607143
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate... OMIM:246560
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Microcephaly, Macrocephaly, H... ORPHA:85279
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Micrognathia, High palate, Prenatal death, Camptodactyly, N... OMIM:618393
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Pes planus, Micrognathia, Abnormality of the den... OMIM:157900
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Abnormal morphology of uln... ORPHA:1307
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea, Secondary microcephaly OMIM:610992
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... ORPHA:2631
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... ORPHA:137888
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... ORPHA:1143
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... ORPHA:3201
Catel-Manzke Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... OMIM:616145
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Congenital Disorder Of Glycosylation, Type Ie
Smooth philtrum, Respiratory distress, Ankle flexion contracture, Micrognathia, High, narrow pala... OMIM:608799
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Joint stiffness, Hypoplasia of the maxilla, Non-mi... ORPHA:245
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Congenital Arthrogryposis With Anterior Horn Cell Disease
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Respiratory insufficiency due ... OMIM:611890
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... OMIM:277170
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Keipert Syndrome
Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/... ORPHA:2662
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... ORPHA:3098
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ... ORPHA:2521
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening OMIM:183700
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... OMIM:617102
Cranioectodermal Dysplasia 1
Single transverse palmar crease, High, narrow palate, Ectodermal dysplasia, High palate, Widely s... OMIM:218330
Hypoglossia With Situs Inversus
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou... OMIM:612776
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... OMIM:618363
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Asthma, Cleft palate, Mild microcephaly, Increased overbite... OMIM:618761
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... OMIM:314390
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... ORPHA:93307
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... OMIM:602080
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal... OMIM:108721
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove... OMIM:619793
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho... ORPHA:915
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Micrognathia, Recurrent patellar dislocation, Capitate-hamate... OMIM:614078
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla... ORPHA:1248
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Abnormality of the dentit... ORPHA:776
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micrognathia, Micromelia, Elbow ... ORPHA:93329
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... ORPHA:93259
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Adducted Thumbs Syndrome
Craniosynostosis, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, ... OMIM:201550
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Orofaciodigital Syndrome Type 10
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... ORPHA:2756
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Absent Achilles refle... OMIM:620011
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Abnormal metacarpal morphology, Malar f... ORPHA:166100
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Weakness of the intrinsic hand muscles, Weakness of ... ORPHA:98913
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve... OMIM:134780
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi... OMIM:612350
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Crowded maxillary inc... ORPHA:397973
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... OMIM:258315
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia... OMIM:166300
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Abnormal epiphys... ORPHA:90653
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Short Stature, Brussels Type
Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage, Macrocephaly ORPHA:2867
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, B... OMIM:218600
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Primary microcephaly ORPHA:171703
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Progeroid facial appearance, Hypoplasia of the maxilla, Genu valgum, Slender long bon... OMIM:608154
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Long foot, Micrognathia, Microcephaly, High, narrow palate,... ORPHA:2707
Cleidocranial Dysplasia 1
Respiratory distress, Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finge... OMIM:119600
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper limb muscle hypoplasia, Sy... OMIM:607323
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... OMIM:210710
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-space... OMIM:601349
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... ORPHA:2741
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption o... OMIM:620099
Choanal Atresia
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheom... ORPHA:137914
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... OMIM:271225
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Auriculocondylar Syndrome 1
Dental crowding, Apnea, Micrognathia, Ankylosis, Narrow mouth, Dental malocclusion, Cleft palate,... OMIM:602483
Acrodysostosis
Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r... ORPHA:950
Osteoglophonic Dysplasia
Osteopenia, Respiratory distress, Mandibular prognathia, Hypoplasia of the maxilla, Short metatar... OMIM:166250
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Hypoplasia of the odontoid process, Pierre-Robin se... OMIM:183900
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... ORPHA:166119
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial s... ORPHA:3404
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... ORPHA:1106
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia OMIM:300580
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Mic... OMIM:217980
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contractu... OMIM:224690
Tetrasomy 5P
Respiratory distress, Cyanosis, Overlapping toe, Short hallux, Micrognathia, Long fingers, Macroc... ORPHA:3309
Radio-Renal Syndrome
Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r... ORPHA:3015
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplast... OMIM:151210
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Long palm, Arachnodactyly, Abnormality of the philtrum, Missing ribs, Aplas... ORPHA:2759
Acro-Renal-Ocular Syndrome
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... ORPHA:959
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... ORPHA:1856
Agnathia-Otocephaly Complex
Respiratory distress, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Tracheomalacia, Microgl... OMIM:202650
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu... OMIM:136760
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Tongue fasciculations, Respiratory insufficiency ORPHA:238329
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Short lingual frenul... OMIM:619479
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Long palm, Hypoplasia of the maxilla, High palate, Macrocephaly, Long foot OMIM:300676
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta... OMIM:300990
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Thin upper lip vermilion, Respiratory distress, Micrognathia, Deep philtrum, Dental m... ORPHA:329178
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Hypoplasia of the maxilla, Macrocephaly, Narrow mouth, Malar flattening, Br... ORPHA:261295
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... ORPHA:763
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Microcephaly, Abnormal fing... ORPHA:896
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, Microcephaly, ... ORPHA:3304
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R... OMIM:265120
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ... OMIM:231070
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Micrognathia, Microcephaly, Abnormal foot morphology, Flexion contracture... OMIM:618186
Ear-Patella-Short Stature Syndrome
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ... ORPHA:2554
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Progressive microcephaly ORPHA:71277
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Micrognathia, Delayed e... OMIM:114290
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... ORPHA:254864
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr... ORPHA:1798
Occipital Horn Syndrome
Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Hiatus hernia, Capita... OMIM:304150
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Microcephaly OMIM:617977
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... OMIM:616331
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Craniosynostosis, Micrognathia, Ankle flexion contracture, Knee flexion c... ORPHA:284417
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Arachnodactyly, Micrognathia, Microcephaly, Cleft palate, Narrow mouth, Malar f... ORPHA:93946
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,... ORPHA:439822
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Congenital Myasthenic Syndrome
Joint laxity, Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Int... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Joint laxity, Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Int... ORPHA:98914
Cohen Syndrome
Pes planus, Short metacarpal, Single transverse palmar crease, Micrognathia, Tapered finger, High... OMIM:216550
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Microcephaly, Micrognathia, Thin vermilion border, Short philtrum ORPHA:261304
Hereditary Methemoglobinemia
Microcephaly, Lip discoloration, Cyanosis, Exertional dyspnea ORPHA:621
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, High palate, Neonatal death, Retrognathia, Joint hypermob... OMIM:300219
Say Syndrome
Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Microcephaly, Cleft palate, Shor... OMIM:181180
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... ORPHA:93316
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology OMIM:217150
Martsolf Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... OMIM:212720
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Progressive microcephaly, Long philtrum OMIM:614741
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... OMIM:215140
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... ORPHA:93260
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Short femur, Apnea, Microcephaly, Flexion contracture, Orofa... ORPHA:17
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Microcephaly, Long fingers, Thick lower lip vermilion, Joint contracture of the 5... OMIM:614407
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Talipes equinovarus, Microcephaly OMIM:150260
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of ... OMIM:618529
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... OMIM:610910
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... OMIM:241310
Crisponi/Cold-Induced Sweating Syndrome 1
Pes planus, Micrognathia, Tapered finger, Narrow mouth, Carious teeth, Dyspnea, Elbow flexion con... OMIM:272430
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... ORPHA:178303
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Proximal placement of thumb, Micrognathia, Microcephaly, Preaxial hand poly... OMIM:610536
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Relative macrocephaly, Micromelia, Postaxial polydactyly, Hypop... OMIM:617895
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Intestinal malrotation, Microcephaly, Genu valgum, Wide mouth, Macrocephaly, Joint h... OMIM:617798
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... ORPHA:3206
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough ORPHA:77260
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Bardet-Biedl Syndrome 16
Respiratory distress, Polydactyly OMIM:615993
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation... ORPHA:1529
Hyperparathyroidism, Transient Neonatal
Osteopenia, Respiratory distress, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bo... OMIM:618188
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Microphthalmia, Syndromic 12
Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Retrognathia OMIM:615524
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... ORPHA:100057
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... OMIM:165590
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... OMIM:268300
Arthrogryposis, Distal, Type 3
Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Single transverse p... OMIM:114300
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me... ORPHA:192
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p... OMIM:615777
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... OMIM:201000
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... ORPHA:226313
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia ORPHA:99772
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Pes planus, Single transverse ... OMIM:305400
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Downturned corners of mouth, Genu varum, Long toe, Prematurely... OMIM:264090
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Tapered finger, Microcephaly, Flexion contract... ORPHA:544503
Orofaciodigital Syndrome Type 2
Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, High... ORPHA:2751
Arterial Tortuosity Syndrome
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Prematurely aged... ORPHA:3342
Meier-Gorlin Syndrome 5
Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar... OMIM:613805
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Mandibular prognathia, Knee contracture, Respiratory fail... OMIM:620278
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Micrognathia, Diastema, Hypoplasi... OMIM:300534
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil... ORPHA:314655
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ... OMIM:164900
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... ORPHA:420794
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Gingival overgrowth, Rhizomelic arm s... ORPHA:508542
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Micrognathia, Microcephaly, Limitation of joint mobility, Os... ORPHA:99742
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... ORPHA:198
Lowry-Maclean Syndrome
Osteopenia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Delayed eruption of ... ORPHA:2409
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... ORPHA:957
Double Outlet Right Ventricle
Cyanosis, Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard ... ORPHA:3426
Tarp Syndrome
Finger syndactyly, Cyanosis, Apnea, Single transverse palmar crease, Rocker bottom foot, Microgna... ORPHA:2886
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Talipes, Postaxial polydactyly... OMIM:619879
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Bifid uvula, Cleft palate, Micrognathia OMIM:606164
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Congenital hip dislocation, Single transverse palmar crease... ORPHA:508488
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hamartoma of tongue... OMIM:258860
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Premature osteoarthritis, Flexion contrac... OMIM:215150
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... ORPHA:536467
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Epistaxis, Microcephaly, Metatarsus adductus, Hypoplasia... ORPHA:293939
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Hypoplasia of the maxill... OMIM:619142
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia ORPHA:596
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Respiratory insufficiency, Abnormal metacarpal morphology, Malar flatt... ORPHA:93262
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Respiratory distress, Rocker bottom foot, Primary microcephaly, Adducted thumb ORPHA:89844
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Myopathy And Diabetes Mellitus
Hyporeflexia of upper limbs, Achilles tendon contracture, Shoulder girdle muscle weakness, Respir... ORPHA:2596
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:601390
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e... ORPHA:485
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Arachnodactyly, ... OMIM:309520
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Mandibula... ORPHA:98915
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... ORPHA:2839
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia, Microcephaly ORPHA:93950
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... ORPHA:3429
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Advanced ossification of carpal... OMIM:269250
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee... OMIM:305620
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Progressive microcephaly, W... OMIM:618737
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Pes planus, Carious teeth, Hypoplasia of the maxilla, High iliac wing,... ORPHA:50814
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... OMIM:620107
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... OMIM:218000
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Premature ... ORPHA:3455
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... ORPHA:264675
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add... ORPHA:2804
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... OMIM:601812
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Smooth philtrum, Broad hallux, Arachnodactyly, Hypoplasia of the maxilla, Flexion contracture, Hi... ORPHA:481152
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... OMIM:200610
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Microcephaly, Everted low... OMIM:608013
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... ORPHA:79113
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... ORPHA:2780
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Tented upper lip vermilion, Limb joint c... OMIM:620369
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... ORPHA:193
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Microcephaly ORPHA:26792
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft palate, Femoral bowing, Flared lower... OMIM:616462
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Thin upper lip vermilion, Cutis marmorata, Single transverse palmar crease, Intestina... OMIM:614701
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Upper airway ... ORPHA:142
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... ORPHA:989
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Thick lower lip vermilion... OMIM:613804
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Microcephaly, Dyspnea, Calf muscle hypertrophy, Thigh hypertrophy, Cough, T... ORPHA:86812
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia OMIM:620306
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... OMIM:257850
Chitayat Syndrome
Hallux valgus, Respiratory distress, Thick vermilion border, Tracheomalacia, Brachydactyly OMIM:617180
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Prominent superficial veins, Respiratory distress, Pyloric stenosis, Dy... ORPHA:363705
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Joint laxity, Respiratory distress, Postaxial polydactyly, Tapered finger, Abnormality of the den... OMIM:300968
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Craniosynostosis, Palmoplantar cutis gyrata, Narrow palate, Cleft palate, A... ORPHA:1555
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Micrognathia, Aplasia/Hypoplasia of the patella, ... OMIM:613803
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Respiratory distress, Tongue atrophy, Respiratory failure requiring assisted... OMIM:211530
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Pitt-Hopkins Syndrome
Single transverse palmar crease, Short metatarsal, Narrow foot, Finger clinodactyly, Short philtr... ORPHA:2896
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the... ORPHA:177907
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... ORPHA:2636
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Abnormal cartilage matrix, Respiratory insufficiency OMIM:245650
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... ORPHA:861
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia OMIM:601809
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ... OMIM:612863
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t... ORPHA:2588
Shprintzen-Goldberg Syndrome
Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio... ORPHA:2462
Van Maldergem Syndrome 2
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:615546
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Short distal phalanx of finger... ORPHA:79345
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... OMIM:616300
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ... OMIM:182212
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... ORPHA:747
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Cyanosis, Exertional dyspnea OMIM:250800
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Rhizomelia, Tibial bowing, Femoral bowing, Macrocephaly, Res... OMIM:616482
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Esophageal Atresia
Respiratory distress, Barrett esophagus, Cyanosis, Intestinal malrotation, Cleft lip, Laryngotrac... ORPHA:1199
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... OMIM:300106
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Short metacarpal, Brachydactyly, Hypoplasia of ... OMIM:101800
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur... ORPHA:140
Apert Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma... ORPHA:87
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow... OMIM:123790
Rapp-Hodgkin Syndrome
Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar... OMIM:129400
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Tented upper lip vermilion, Overlapping toe, Flexion contracture, High pala... OMIM:619383
Marshall Syndrome
Micrognathia, Abnormality of the dentition, Hypoplasia of the maxilla, Osteoarthritis, Hypoplasti... ORPHA:560
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Short distal phalanx of finger, Progressiv... OMIM:614261
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Brachydactyly, Craniosynostosi... ORPHA:794
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Biparietal narrowing, Long ... ORPHA:228396
Succinic Acidemia
Respiratory distress OMIM:600335
Birk-Barel Syndrome
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Single transv... OMIM:612292
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor... ORPHA:570
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Retinal telangiectasia, Hypoplasia of the maxilla, Micrognathia, Microceph... OMIM:620157
Pachyonychia Congenita
Respiratory distress, Natal tooth, Angular cheilitis, Palmoplantar keratoderma, Palmoplantar hype... ORPHA:2309
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Crouzon Syndrome
Hypoplasia of the maxilla, Respiratory insufficiency, Narrow palate, Multiple suture craniosynost... ORPHA:207
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo... ORPHA:740
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th... OMIM:604757
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly OMIM:614526
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Recurrent... OMIM:616229
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, C... ORPHA:2769
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Sandal gap, Single transverse palmar crease, Craniosynostosis, Tapered ... OMIM:608156
Trisomy 8Q
Camptodactyly of finger, Micrognathia, Joint stiffness, Non-midline cleft lip, Bone cyst, Orofaci... ORPHA:1752
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Abnorma... ORPHA:438216
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... ORPHA:1512
Congenital Fibrinogen Deficiency
Cyanosis, Clubbing of fingers, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous... ORPHA:335
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr... OMIM:139210
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Re... OMIM:609465
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Cyanosis, Short lingual frenulum, Midgut malrotation, Osteoporosis, Cleft palate ORPHA:2326
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Pes planus, Microcephaly OMIM:618302
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Broad skull, Broad palm, Narrow pal... OMIM:277600
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Hydrolethalus
Tracheal atresia, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard pala... ORPHA:2189
Larsen Syndrome
Finger syndactyly, Brachydactyly, Craniosynostosis, Accessory carpal bones, Cleft palate, Respira... ORPHA:503
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Breath-Holding Spells
Cyanosis OMIM:607578
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Cleft upper lip, Hypoplasia of the maxilla, 2-3 toe synd... OMIM:106260
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... OMIM:618779
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplan... OMIM:615108
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Metaphyseal sclerosis, Metaphyseal chondrody... OMIM:260400
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short metacarpal, ... OMIM:272460
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, High palate, Inspiratory stridor, Irregular respiration OMIM:604377
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Pedal edema, Hypoxemia, Clubbing of fingers, Elevated pulmonary ar... ORPHA:199241
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Bilateral single transverse palmar creases, Micromelia, S... ORPHA:50810
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Microglossia, Respiratory distress, Narrow mouth ORPHA:990
Congenital Diaphragmatic Hernia
Hypoxemia, Intestinal malrotation, Respiratory distress ORPHA:2140
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micromelia, Micrognathia, Microcephaly, Respiratory insufficiency, Shor... OMIM:224410
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Short distal phalanx of finger OMIM:300266
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, High palate, Neonatal death, Microdontia, Long h... OMIM:259775
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... ORPHA:37553
Schilbach-Rott Syndrome
Micrognathia, Microcephaly, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger... OMIM:164220
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Oromandibular Dystonia
Respiratory distress, Abnormal lip morphology, Abnormal mandible morphology, Abnormality of the t... ORPHA:93958
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U... ORPHA:100050
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Mandibular prognathia, Unilateral cleft palate, Craniosynostosi... ORPHA:1299
Kagami-Ogata Syndrome
Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla, Flexion contracture, Long phil... OMIM:608149
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Microcephaly, Protruding tongue, Hand clenching OMIM:619580
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplan... OMIM:615109
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Trismus, Abnormal foot morphology, Submucous cleft hard palate... OMIM:609166
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Joint stiffness ORPHA:2400
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxil... ORPHA:314679
Weill-Marchesani Syndrome 2
Short metacarpal, Joint stiffness, Broad metatarsal, Hypoplasia of the maxilla, Broad skull, Elbo... OMIM:608328
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Microcephaly, Tapered finger, Short finger, Acrocyanosis ORPHA:1867
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Tracheal stenosis, Pierre-Robin sequence, Primary mi... OMIM:620183
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Microcephaly, Metaphyseal widening, Flexion contracture, Clubbing, Recurren... OMIM:617303
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Malaria
Respiratory distress ORPHA:673
Dravet Syndrome
Pes planus, Pes valgus, Limited knee extension, Cyanotic episode, Tibial torsion ORPHA:33069
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Microcephaly, Death in childhood OMIM:615597
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Oligodontia, A... ORPHA:2095
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Microcephaly, Short femur, Tapered finger OMIM:618367
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Bent Bone Dysplasia Syndrome 2