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Gene: Disp1 MGI:1916147

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dispatched RND transporter family member 1
Synonyms:
DispA,  1190008H24Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Disp1 mutations

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

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

The table below shows human diseases predicted to be associated to Disp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Holoprosencephaly 5
High palate, Syntelencephaly, Deep philtrum, Hydrocephalus, Semilobar holoprosencephaly, Lobar ho... OMIM:609637
Holoprosencephaly 9
Optic nerve hypoplasia, Holoprosencephaly, Cleft palate, Bilateral cleft lip and palate, Agenesis... OMIM:610829
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Res... ORPHA:1832
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypothyroidism, Anterior pituitary hypoplasia, Deeply set eye, Decreased circulating free T4 conc... OMIM:613038
Congenital Disorder Of Glycosylation, Type Iu
High palate, Optic atrophy, Death in infancy, Micrognathia, Respiratory distress, Short nose, Thi... OMIM:615042
Solitary Median Maxillary Central Incisor
Cleft upper lip, Abnormal nasopharynx morphology, Decreased response to growth hormone stimulatio... OMIM:147250
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Acromelic Frontonasal Dysplasia
Meningocele, Anterior pituitary hypoplasia, Encephalocele, Wide mouth, Hypopituitarism, Bifid nos... ORPHA:1827
Developmental And Epileptic Encephalopathy 87
High palate, Prominent nose, Wide mouth, Widely spaced teeth, Hypertelorism, U-Shaped upper lip v... OMIM:618916
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Long philtrum, Micrognathia, Bilateral cryptorchidism, Short nose, Thin upper lip ve... OMIM:613544
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Depressed nasal ridge, Anterior hypopituitarism, Cleft palate, Hypotelorism OMIM:601016
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Temporomandibular joint ankylosis, Micrognathia, Respiratory distress, Uppe... ORPHA:141152
Culler-Jones Syndrome
Diabetes insipidus, Cleft upper lip, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism... OMIM:615849
Microform Holoprosencephaly
Hypothyroidism, Asthma, Hypotelorism, Maternal diabetes, Short philtrum, Panhypopituitarism, Choa... ORPHA:280200
Holoprosencephaly 11
Holoprosencephaly, Proptosis, Cleft lip, Cleft palate, Hypotelorism OMIM:614226
Holoprosencephaly 4
Absent nasal septal cartilage, Semilobar holoprosencephaly, Median cleft lip and palate, Median c... OMIM:142946
Holoprosencephaly 3
Single naris, Proboscis, Bifid uvula, Solitary median maxillary central incisor, Holoprosencephal... OMIM:142945
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus, Hypertelorism ORPHA:945
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... ORPHA:157954
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Deep philtrum, Bilateral cleft lip, Death in infancy, Bifid uvula, Short p... OMIM:618622
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Micrognathia, Hypotelorism, Short philtrum, Everted lower lip vermilion, Hypogonadot... ORPHA:1387
Hartsfield Syndrome
Respiratory insufficiency, Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly, Hyperte... ORPHA:2117
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Pierre-Robin sequence, High palate, Deeply set eye, Wide nasal bridge, Micrognathia, Bulbous nose... OMIM:613604
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, High palate, Deeply set eye, Deep philtrum, Widely spaced teeth, Hypotelorism, S... OMIM:612530
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Hypertelorism, Proptosis, Cyclopia ORPHA:2165
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Deeply set eye, Thick vermilion border, Submucous cleft hard palate, H... ORPHA:250999
Prader-Willi Syndrome Due To Translocation
Micrognathia, Bifid uvula, Everted lower lip vermilion, Alveolar ridge overgrowth, Cleft palate, ... ORPHA:177907
Lambert Syndrome
Ventricular septal defect, Branchial anomaly, Intrauterine growth retardation ORPHA:1296
Holoprosencephaly 7
Wide nasal bridge, Lobar holoprosencephaly, Median cleft lip, Holoprosencephaly, Hypoplastic nasa... OMIM:610828
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Wide nasal bridge, Short philtrum, Hypertelorism, Downturned corners of mouth, S... OMIM:613192
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Thin upper lip vermilion, Broad nasal tip, Widely-space... OMIM:619719
Holoprosencephaly 2
Diabetes insipidus, Aplasia of the nasal bone, Bilateral cleft lip and palate, Absent nasal septa... OMIM:157170
Microhydranencephaly, X-Linked
Holoprosencephaly, Multiple joint contractures OMIM:306990
Isolated Exencephaly
Hypoplasia of the frontal bone, Anterior pituitary hypoplasia, Maternal diabetes, Holoprosencepha... ORPHA:563612
Distal Monosomy 13Q
Encephalocele, Abnormal cardiac septum morphology, Anencephaly, Holoprosencephaly, Iris coloboma,... ORPHA:1590
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Absent nares, Aplasia/Hypoplasia involving the nose, Mandibular aplasia, Respiratory distress, Ho... ORPHA:990
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Holoprosencephaly,... OMIM:264480
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... ORPHA:231720
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Iris coloboma, Chorioretinal coloboma OMIM:611638
Non-Distal Trisomy 13Q
High palate, Long philtrum, Micrognathia, Hypotelorism, Short nose, Everted lower lip vermilion, ... ORPHA:1702
Auriculocondylar Syndrome 2
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... OMIM:614669
Distal Monosomy 7Q36
Non-midline cleft lip, Wide mouth, Optic atrophy, Micrognathia, Holoprosencephaly, Cryptorchidism... ORPHA:1636
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Wide nasal bridge, Optic atrophy, Micrognathia, Short upper lip, Macroglossia, Hypertelorism, Cry... OMIM:309580
Amyotrophy, Hereditary Neuralgic
Deeply set eye, Brachial plexus neuropathy, Long nasal bridge, Depressed nasal bridge, Narrow mou... OMIM:162100
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... OMIM:618157
Frontoocular Syndrome
High palate, Micrognathia, Narrow philtrum, Narrow mouth, Proptosis, Prominent nasal bridge, Hypo... OMIM:605321
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Deeply set eye, Microretrognathia, Abnormality of the dentition, Hyp... ORPHA:276422
Acrocraniofacial Dysostosis
Wide nose, Natal tooth, Micrognathia, Abnormal auditory evoked potentials, Short philtrum, Propto... OMIM:201050
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Non-midline cleft lip, Spinal dysraphism, Encephalocele, Mandibular prognathia, Wide... ORPHA:1908
Agnathia-Otocephaly Complex
Wide nose, Mandibular aplasia, Micrognathia, Respiratory distress, Holoprosencephaly, Microglossi... OMIM:202650
Combined Pituitary Hormone Deficiencies, Genetic Forms
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Depressed n... ORPHA:95494
Trigonocephaly 1
Long philtrum, Wide nasal bridge, Short nose, Meckel diverticulum, High, narrow palate, Hypotelorism OMIM:190440
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Deeply set eye, Depressed nasal ridge, Optic atrophy, Short philtrum, Hype... OMIM:618672
Tonne-Kalscheuer Syndrome
Convex nasal ridge, Prominent nose, Wide nasal bridge, Widely spaced teeth, Decreased testicular ... OMIM:300978
Filippi Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Optic atrophy, Hypodontia, Microdontia, Abnormality... OMIM:272440
Atkin-Flaitz Syndrome
Macroorchidism, Thick vermilion border, Maxillary lateral incisor microdontia, Everted lower lip ... ORPHA:1193
Trigonocephaly With Short Stature And Developmental Delay
Convex nasal ridge, High palate, Wide nasal bridge, Broad alveolar ridges, Hypotelorism OMIM:314320
Intellectual Developmental Disorder, Autosomal Recessive 5
Thick upper lip vermilion, Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Short ph... OMIM:611091
Chromosome 3Q13.31 Deletion Syndrome
High palate, Decreased testicular size, Short philtrum, Alobar holoprosencephaly, Hypertelorism, ... OMIM:615433
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Convex nasal ridge, High palate, Broad secondary alveolar ridge, Wide nasal bridge, Hypotelorism ORPHA:3369
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Coloboma, Ventricular septal defect, Anterior encephalocele OMIM:601357
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft lip, Hypertelorism, Bilateral cleft palate, Cryptorc... OMIM:616788
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Holoprosencephaly, Hydrocephalus OMIM:617967
Cranioectodermal Dysplasia
Microdontia, Hypodontia, Taurodontia, Hypotelorism, Everted lower lip vermilion, Anteverted nares... ORPHA:1515
Hadziselimovic Syndrome
High palate, Thick lower lip vermilion, Anal atresia, Anteverted nares, U-Shaped upper lip vermil... OMIM:612946
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Narrow mouth, Anal atresia, Hypotelorism ORPHA:3469
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Volvulus, Bulbous nose, Intestinal malrotation, Hypertelorism, Hypoplastic ph... OMIM:616682
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
High palate, Hyposmia, Small pituitary gland, Delayed puberty, Anosmia, Cleft lip, Cryptorchidism... OMIM:612702
Mohr Syndrome
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Hydrocephalus, Median ... OMIM:252100
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Anterior pituitary hypoplasia, Decreased response to growth hormone sti... OMIM:221750
Weyers Acrofacial Dysostosis
Conical tooth, Solitary median maxillary central incisor, Hypotelorism OMIM:193530
Chromosome 14Q11-Q22 Deletion Syndrome
Anterior pituitary hypoplasia, High palate, Long philtrum, Deeply set eye, Elevated circulating t... OMIM:613457
2Q23.1 Microduplication Syndrome
Prominent nose, Wide mouth, Prominent nasal tip, Thin upper lip vermilion, Dental crowding, Bulbo... ORPHA:313947
Trisomy 18P
Underdeveloped nasal alae, Wide nasal bridge, Facial palsy, Micrognathia, Bilateral cryptorchidis... ORPHA:1715
Monosomy 18P
Hypothyroidism, Wide nasal bridge, Hypodontia, Micrognathia, Short philtrum, Downturned corners o... ORPHA:1598
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Underdeveloped nasal alae, Pierre-Robin sequence, Prominence of the zygomatic bon... ORPHA:364577
Perching Syndrome
Depressed nasal bridge, High palate, Respiratory distress OMIM:617055
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Micrognathia, Solitary median maxillary central incisor, Cleft pala... OMIM:602418
6P22 Microdeletion Syndrome
Abnormal palate morphology, Hydrocephalus, Deeply set eye, Hypotelorism ORPHA:251046
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Deeply set eye, Multiple joint contractures, Hydranencephaly, Holoprosen... ORPHA:2570
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Wide nasal bridge, Velopharyngeal insufficiency, Submucous cleft hard palate, Loba... OMIM:614701
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Hyposmia, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Cleft palate, ... OMIM:244200
49,Xxxxy Syndrome
Wide nose, Pulmonary embolism, Mandibular prognathia, Depressed nasal ridge, Hypogonadism, Delaye... ORPHA:96264
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, High palate, Abnormal external ... ORPHA:556955
Septo-Optic Dysplasia Spectrum
Diabetes insipidus, Anterior pituitary hypoplasia, Septo-optic dysplasia, Esophageal atresia, Mat... ORPHA:3157
Deeah Syndrome
Retrognathia, Anterior pituitary hypoplasia, Narrow palate, Long philtrum, High palate, Decreased... OMIM:619004
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Encephalocele, Hydrocephalus, Atrial septal defect, Holoprosencephaly, ... ORPHA:93274
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Wide nasal bridge, Decreased circulating T4 concentra... ORPHA:398073
Triploidy
Meningocele, Non-midline cleft lip, Wide mouth, Micrognathia, Hydrocephalus, Macroglossia, Intest... ORPHA:3376
Septooptic Dysplasia
Diabetes insipidus, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulati... OMIM:182230
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... OMIM:173100
Li-Ghorbani-Weisz-Hubshman Syndrome
Thick vermilion border, Downturned corners of mouth, Depressed nasal bridge, Prominent nasal brid... OMIM:618974
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Oligodontia, Bulbous nose, Hypotelorism OMIM:618330
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, High palate, Deep philtrum, Optic atrophy, Micrognathia, Respiratory distres... ORPHA:329178
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Wide mouth, Wide nasal bridge, Macroglossia, ... OMIM:618729
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Holoprosencephaly, Cycl... ORPHA:261236
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... ORPHA:3352
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge, Hypotelorism ORPHA:3366
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Microcephaly 29, Primary, Autosomal Recessive
Deeply set eye, Hypoplastic philtrum OMIM:620047
Intellectual Disability, Birk-Barel Type
Incisor macrodontia, Micrognathia, Short philtrum, Narrow nasal bridge, Broad nasal tip, Tongue f... ORPHA:166108
Trisomy 18
Camptodactyly of finger, Ventricular septal defect, Spina bifida, Anencephaly, Atrial septal defe... ORPHA:3380
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Depressed nasal bridge, High palate, Wide nasal bridge, Hypotelorism OMIM:615760
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Hypothyroidism, Long philtrum, Micrognathia, Oligodontia, Short philtrum, Short nose, ... ORPHA:391408
Microcephaly, Autosomal Dominant
Increased overbite, Hypotelorism OMIM:156580
Intellectual Developmental Disorder, Autosomal Dominant 7
Deeply set eye, Thick lower lip vermilion, Micrognathia, Thin upper lip vermilion, Smooth philtru... OMIM:614104
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Abnormal cardiac septum morphology, Hydrocephalus, Holoprosencephaly, Cyclopia, Um... ORPHA:2166
Lambotte Syndrome
Retrognathia, Convex nasal ridge, Semilobar holoprosencephaly, Hypertelorism, Narrow mouth OMIM:245552
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, High palate, Tongue fasciculations, Respiratory distress, Restrictive ... OMIM:614399
Elsahy-Waters Syndrome
Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Anal stenosis... OMIM:211380
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Narrow nasal bridge, Abnormal zygomatic bone morphology, Malar flattening,... ORPHA:2511
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect, Aqueductal stenos... OMIM:619895
Muscle-Eye-Brain Disease
Meningocele, Myopathy, Holoprosencephaly, Hydrocephalus ORPHA:588
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Holoprosencephaly
Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular septal defect, Deeply set eye, H... ORPHA:2162
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Small pituitary gland, Anosmia, Cryptorchidism, Cleft palate OMIM:614880
Acrootoocular Syndrome
Dental malocclusion, Decreased response to growth hormone stimulation test, Pseudopapilledema, De... ORPHA:2980
Trichothiodystrophy 8, Nonphotosensitive
Retrognathia, Prominent nose, Long philtrum, Thin upper lip vermilion, Hypotelorism OMIM:619691
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Deeply set eye, Wide nasal bridge, Micrognathia, Short philtrum, Respiratory distress, Hypertelor... ORPHA:261304
Atkin-Flaitz Syndrome
Macroorchidism, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median ton... OMIM:300431
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Prominent nose, Long philtrum, Micrognathia, Hypotelorism, Prominent nasal... ORPHA:439822
Chromosome 5P13 Duplication Syndrome
High palate, Wide nasal bridge, Short philtrum, Hypertelorism, Downturned corners of mouth, Propt... OMIM:613174
Fg Syndrome Type 1
Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Small pituitary gland,... ORPHA:93932
Hartsfield Syndrome
Wide nose, Diabetes insipidus, Cleft upper lip, Hypoplasia of the frontal bone, Gonadotropin defi... OMIM:615465
Rubinstein-Taybi Syndrome 2
Retrognathia, Talon cusp, Dental malocclusion, Convex nasal ridge, High palate, Narrow palate, Pr... OMIM:613684
Periventricular Nodular Heterotopia 9
High palate, Hypoplastic philtrum, Gingival overgrowth, Everted upper lip vermilion OMIM:618918
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test OMIM:618160
Ritscher-Schinzel Syndrome 4
High palate, Narrow palate, Wide mouth, Deeply set eye, Wide nasal bridge, Hypotelorism, Short ph... OMIM:619435
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Mandibular prognathia, Deeply set eye, Spina bifida occulta, Cleft palate, Malar... OMIM:268850
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177901
Fetal Akinesia Deformation Sequence 2
Respiratory insufficiency, High palate, Wide nasal bridge, Micrognathia, Hypertelorism, Cryptorch... OMIM:618388
Ring Chromosome 21 Syndrome
Holoprosencephaly, Abnormal heart morphology ORPHA:1445
Cutis Laxa, Autosomal Recessive, Type Iib
Deeply set eye, High palate, Long philtrum, Narrow nasal ridge, Hydrocephalus, Hypertelorism, Mal... OMIM:612940
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate, Hypertelorism,... ORPHA:2804
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
High palate, Hypotelorism OMIM:616281
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:301043
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98754
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Intellectual Developmental Disorder, Autosomal Dominant 21
Incisor macrodontia, Long philtrum, Hypertelorism, Narrow mouth, Thin vermilion border, Cryptorch... OMIM:615502
Congenital Disorder Of Glycosylation, Type Iy
Deeply set eye, Wide mouth, Widely spaced teeth, Micrognathia, Respiratory distress OMIM:300934
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Hypertelorism, Anterior pituitary hypoplasia, Pituitary hypothyroidism OMIM:619983
Schilbach-Rott Syndrome
Prominent nose, Micrognathia, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Long nose, ... OMIM:164220
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypodontia, Small pituitary gland, Delayed puberty, Hypogonadotropic hypogonadism, Carious teeth,... OMIM:612079
Giacheti Syndrome
Hypotelorism OMIM:612917
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Lenz-Majewski Hyperostotic Dwarfism
Enamel hypoplasia, Choanal stenosis, Anterior pituitary hypoplasia, Mandibular prognathia, Microg... OMIM:151050
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177904
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... OMIM:313500
Chilton-Okur-Chung Neurodevelopmental Syndrome
Micrognathia, Smooth philtrum, Agenesis of incisor, Asthma, Hypertelorism, Cryptorchidism, Obstru... OMIM:619841
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... ORPHA:226307
Endocrine-Cerebroosteodysplasia
Thick upper lip vermilion, Deeply set eye, Natal tooth, Bilateral cleft lip, Wide nasal bridge, M... OMIM:612651
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
14Q22Q23 Microdeletion Syndrome
Underdeveloped nasal alae, Diabetes insipidus, Anterior pituitary hypoplasia, Micrognathia, Optic... ORPHA:264200
Multiple Pterygium-Malignant Hyperthermia Syndrome
Abnormal mandible morphology, Prominence of the zygomatic bone, Long philtrum, Broad alveolar rid... ORPHA:2215
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Frontal encephalocele, Hypotelorism OMIM:218670
Clark-Baraitser syndrome
Macroorchidism, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median ton... OMIM:300602
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Underdeveloped nasal alae, High palate, Wide mouth, Micrognathia, Hypotelorism, Short philtrum, H... OMIM:300986
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Prominent nose, Long philtrum, Abnormality of thyroid physiology, Wide nasal bridge, Hypotelorism... OMIM:300968
Trisomy 13
Deeply set eye, Long philtrum, Optic atrophy, Hypotelorism, Median cleft lip, Cryptorchidism, Cle... ORPHA:3378
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Wide anterior fontanel, Macroglossia, Decreased thyroid-stimulating hormone level... OMIM:275100
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Tetralogy of Fallot, Iris coloboma, Cyclopia, Overriding aorta, Hypotelorism ORPHA:3186
Chitayat Syndrome
Respiratory distress, Hypertelorism, Short columella, Depressed nasal bridge, Proptosis, Antevert... OMIM:617180
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Micrognathia, Respiratory distress, Frontalis muscle weakness, Respiratory insufficiency due to m... OMIM:300580
Chromosome 15Q11.2 Deletion Syndrome
Irregular dentition, Asthma, Micrognathia, Hypertelorism, Narrow nose, Smooth philtrum, Cleft pal... OMIM:615656
Immunodeficiency 95
Respiratory failure, Recurrent viral upper respiratory tract infections, Respiratory distress, Re... OMIM:619773
Trisomy 1Q
Wide nose, Hydrocephalus, Anal atresia, Microretrognathia, Hypertelorism, Narrow mouth, Depressed... ORPHA:261344
Glutathionuria
Asthma, Hypotelorism OMIM:231950
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Prominent nose, Wide mouth, Widely spaced teeth, High, narrow pala... ORPHA:466791
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Deeply set eye, High palate, Micrognathia, Narrow mouth, Cryptorchidism, Neonatal respiratory dis... OMIM:602471
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Diabetes insipidus, High palate, Long philtrum, Semilobar holoprosencephaly, ... OMIM:618500
Pallister-Hall Syndrome
Precocious puberty, Decreased circulating cortisol level, Holoprosencephaly, Cleft palate, Choana... OMIM:146510
16P11.2P12.2 Microdeletion Syndrome
Deeply set eye, Absent nasal bridge, Bulbous nose, Microretrognathia, Short nose, Orofacial cleft... ORPHA:261211
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Encephalocele, Calf muscle hypertrophy, Congenital muscular dystrophy, Hydro... OMIM:253800
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Mandibular prognathia, Deeply set eye, Prominent nose, Short philtrum, Long nose, Thin upper lip ... OMIM:300486
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Micrognathia, Abnormal palate morphology, Narrow nasal bridge, Cryptorchid... ORPHA:3082
Harrod Syndrome
Dental malocclusion, High palate, Long nose, Narrow mouth, Cryptorchidism, Hypotelorism ORPHA:2115
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Marbach-Schaaf Neurodevelopmental Syndrome
Submucous cleft hard palate, Thin upper lip vermilion, Downturned corners of mouth, Depressed nas... OMIM:619680
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Iris coloboma ORPHA:77298
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Micrognathia, Oligodontia, Downturned corners of mouth, Narrow mouth, Delayed pub... OMIM:616817
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Webbed neck, Branchial anomaly, Abnormal mitral valve morphology ORPHA:1131
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormal jaw morphology, Yellow-brown discoloration of the teeth, Enamel hypom... ORPHA:88661
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide nasal bridge, Micrognathia, Supernumerary nipple, Smooth philtrum, Cleft palate, Optic disc ... OMIM:618454
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Downturned corners of mouth, Hypotelorism OMIM:618718
Alkuraya-Kucinskas Syndrome
High palate, Micrognathia, Hydrocephalus, Short nose, Pleural effusion, Hypertelorism, Depressed ... OMIM:617822
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Tongue fasciculations, Respiratory distress ORPHA:238329
Vici Syndrome
High palate, Optic atrophy, Death in infancy, Hypertelorism, Depressed nasal tip, Hypotelorism ORPHA:1493
Oculodentodigital Dysplasia
Non-midline cleft lip, Optic atrophy, Micrognathia, Taurodontia, Median cleft lip, Broad columell... ORPHA:2710
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Midgut malrotation, Convex nasal ridge, Short nasal bridge, Delayed eru... ORPHA:2409
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Orofaciodigital Syndrome Type 2
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... ORPHA:2751
Oculocerebrofacial Syndrome, Kaufman Type
Retrognathia, Wide mouth, Optic atrophy, Microdontia, Abnormal lip morphology, Micrognathia, Shor... ORPHA:2707
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti... ORPHA:300385
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Death in infancy, Delayed eruption of teeth, Respiratory... ORPHA:166272
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Hypotelorism ORPHA:1952
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Concave nasal ridge, Decreased response to growth hormone stimulation test, Respiratory distress,... OMIM:245590
Semilobar Holoprosencephaly
Central hypothyroidism, Bifid uvula, Median cleft lip, Abnormal pattern of respiration, Cyclopia,... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Bifid uvula, Median cleft lip, Abnormal pattern of respiration, Cyclopia,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Bifid uvula, Median cleft lip, Abnormal pattern of respiration, Cyclopia,... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Bifid uvula, Median cleft lip, Abnormal pattern of respiration, Cyclopia,... ORPHA:93924
Premature Aging Syndrome, Penttinen Type
Retrognathia, Convex nasal ridge, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:601812
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... ORPHA:70589
Trichothiodystrophy 3, Photosensitive
Natal tooth, Bilateral cryptorchidism, Pyloric stenosis, Eclabion, Meckel diverticulum, Carious t... OMIM:616395
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Anterior pituitary hyp... ORPHA:67045
Short Stature-Micrognathia Syndrome
Retrognathia, High palate, Micrognathia, Cryptorchidism, Cleft palate, Obstructive sleep apnea, H... OMIM:617164
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Wide nasal b... OMIM:618067
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Incisor macrodontia, Underdeveloped nasal alae, High palate, Wide nasal bridge, Respiratory distr... ORPHA:438216
Hypoglossia With Situs Inversus
High palate, Hypodontia, Micrognathia, Respiratory distress, Narrow mouth, Upper airway obstructi... OMIM:612776
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal... OMIM:619751
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Ventilator dependence with inability to wean, Respiratory distress, Macroglossia, Re... ORPHA:254864
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Deeply set eye, Decreased response to growth hormone stimulation test, Micrognath... OMIM:614114
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Wide nasal bridge, Abnormal lip mo... ORPHA:2759
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Lobulated tongue, Neonatal death, Natal tooth, Anencephaly, Hydrocepha... OMIM:269860
Zimmermann-Laband Syndrome
Wide nose, High palate, Wide mouth, Hypodontia, Micrognathia, Bifid uvula, Gingival fibromatosis,... ORPHA:3473
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Neonatal respiratory distress, High palate, Hypotelorism OMIM:619053
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... ORPHA:300373
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Deep philtrum, Optic atrophy, Microdontia, Diastema, Hypertelorism, Cleft palate OMIM:605282
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Hypogonadism, Decreased testicular size, Central slee... ORPHA:398079
Pfeiffer Syndrome Type 2
High palate, Aqueductal stenosis, Hydrocephalus, Respiratory distress, Anal atresia, Short nose, ... ORPHA:93259
Non-Acquired Panhypopituitarism
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Depressed n... ORPHA:90695
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Optic atrophy, Hydrocephalus, Respiratory distress, Anteriorly placed anus, Hypert... ORPHA:1555
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Long philtrum, Wide nasal bridge, Optic atrophy, Respiratory distress, Short nose, B... OMIM:619383
Congenital Disorder Of Glycosylation, Type Iif
Deeply set eye, Short philtrum, Hypotelorism OMIM:603585
Saethre-Chotzen Syndrome
Convex nasal ridge, Narrow palate, Optic atrophy, Hypoplasia of the maxilla, Hypertelorism, Depre... ORPHA:794
Orofaciodigital Syndrome Iii
Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Hypertelorism, Bulbo... OMIM:258850
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Mitochondrial Pyruvate Carrier Deficiency
Long philtrum, Thin upper lip vermilion, Respiratory distress OMIM:614741
Distal Monosomy 10Q
High palate, Prominent nose, Wide nasal bridge, Micrognathia, Anal atresia, Short nose, Spina bif... ORPHA:96148
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly, Iris coloboma, Hypertelor... ORPHA:141099
Auriculocondylar Syndrome
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,... ORPHA:137888
Baller-Gerold Syndrome
High palate, Malabsorption, Micrognathia, Anal atresia, Short nose, Anteriorly placed anus, Hyper... ORPHA:1225
Braddock Syndrome
Neonatal respiratory distress, Micrognathia, Hypotelorism, Pulmonary arterial hypertension ORPHA:52047
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:254210
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Hydrocephalus, Small pituitary gland, Hypertelorism, Nasofrontal encephalocele OMIM:614195
Diaphanospondylodysostosis
Cleft palate, Myelomeningocele, Respiratory distress ORPHA:66637
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... OMIM:617412
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypotelorism OMIM:619091
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, High palate, Deep philtrum, Micrognathia, Respiratory dist... ORPHA:314655
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Micrognathia, Respiratory distress, Hypertelorism, Depressed nasal bridge, Smooth ... OMIM:608799
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Spina bifida... ORPHA:1452
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Oligodontia, Widely-spaced incisors, Discolored lateral incisors, Conical mandibular incisor OMIM:601668
Ring Chromosome 7 Syndrome
Mandibular prognathia, Hypogonadism, Wide nasal bridge, Narrow naris, Hypotelorism, Bifid uvula, ... ORPHA:1449
Holoprosencephaly 1
Alobar holoprosencephaly, Cyclopia, Single ventricle, Ethmocephaly, Hypotelorism OMIM:236100
Meckel Syndrome 14
Retrognathia, Pneumothorax, Micrognathia, Microretrognathia, Cardiorespiratory arrest, Hypertelor... OMIM:619879
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... ORPHA:60032
Cohen Syndrome
Convex nasal ridge, Decreased response to growth hormone stimulation test, Macrodontia of permane... OMIM:216550
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Cutis Laxa, Autosomal Recessive, Type Iiia
Narrow nasal ridge, Hypertelorism, Narrow mouth, Cryptorchidism, Hypotelorism OMIM:219150
Chand Syndrome
Bifid tongue, Commissural lip pit, Abnormal oral frenulum morphology, Agenesis of permanent teeth... ORPHA:1401
Chromosome 13Q14 Deletion Syndrome
High palate, Deep philtrum, Micrognathia, Supernumerary nipple, Everted lower lip vermilion, Thin... OMIM:613884
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Diabetes mellitus, Dyspnea, Cough, Respiratory failure requiring... ORPHA:140896
Acrofacial Dysostosis, Palagonia Type
Micrognathia, Oligodontia, Supernumerary tooth, Spina bifida occulta, Malar flattening, Bulbous n... ORPHA:1787
Oculodentodigital Dysplasia, Autosomal Recessive
Underdeveloped nasal alae, Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary... OMIM:257850
Temple-Baraitser Syndrome
Wide nose, High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of teeth, Wi... ORPHA:420561
Moebius Syndrome
Abnormal nasopharynx morphology, High palate, Decreased testicular size, Micrognathia, Bifid uvul... OMIM:157900
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Hypotelorism OMIM:604757
Stormorken Syndrome
Deeply set eye, Prominent nose, Short philtrum, Epistaxis, Hypotelorism OMIM:185070
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Deeply set eye, Narrow nasal tip, Pyloric stenosis, Duodenal atres... ORPHA:464306
Trichorhinophalangeal Syndrome Type 2
Long philtrum, Deep philtrum, Wide nasal bridge, Aplasia/Hypoplasia of the mandible, Supernumerar... ORPHA:502
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Supernumerary tooth, Delayed puberty, Hypoplasia of the zygomatic bone, Carious tee... ORPHA:3145
Lethal Recessive Chondrodysplasia
Micrognathia, Respiratory distress, Macroglossia ORPHA:1423
Trichorhinophalangeal Syndrome, Type Iii
Underdeveloped nasal alae, Long philtrum, Pear-shaped nose, Supernumerary tooth, Thin upper lip v... OMIM:190351
Halperin-Birk Syndrome
High palate, Optic atrophy, Aspiration, Micrognathia, Semilobar holoprosencephaly, Death in child... OMIM:618651
Retinal Dystrophy With Leukodystrophy
Cleft palate, Hypotelorism OMIM:618863
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased circulating prolactin concentration, Hyperthyroidism, High palate, Micrognathia, Optic ... ORPHA:502423
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, High palate, Degeneration of anterior horn cells, Respiratory distress... ORPHA:1145
Beare-Stevenson Cutis Gyrata Syndrome
Choanal stenosis, Narrow palate, High palate, Natal tooth, Optic atrophy, Prominent nasal bridge,... OMIM:123790
Galloway-Mowat Syndrome
Aqueductal stenosis, Micrognathia, Hypertelorism, Abnormality of the dentition, Hiatus hernia, Hy... ORPHA:2065
Koolen-De Vries Syndrome
Cleft upper lip, Narrow palate, High palate, Widely spaced teeth, Pyloric stenosis, Pear-shaped n... OMIM:610443
Seckel Syndrome 7
Central hypothyroidism, Prominent nose, Hypotelorism OMIM:614851
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Hypogonadism, Decreased testicular size, Central slee... ORPHA:398069
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Opti... ORPHA:91350
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Micrognathia, Hydrocephalus, Pyloric stenosis, Short nose, Hyper... OMIM:147791
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:739
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, High palate, Long philtrum, Aqueductal stenosis, Optic atrophy, Narrow nas... OMIM:619512
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Retrognathia, Deeply set eye, Widely spaced teeth, Dental crowding, Short philtrum, Semilobar hol... OMIM:301044
Restrictive Dermopathy 2
Convex nasal ridge, Hypoplastic facial bones, Respiratory distress, Microretrognathia, Proptosis,... OMIM:619793
Bardet-Biedl Syndrome 16
Respiratory distress, Hypogonadism OMIM:615993
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Hypotelorism ORPHA:477673
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Vici Syndrome
Wide nose, Cleft upper lip, High palate, Everted upper lip vermilion, Long philtrum, Micrognathia... OMIM:242840
Laryngotracheal Angioma
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Facial Paresis, Hereditary Congenital, 3
High palate, Micrognathia, Short philtrum, Short nose, Downturned corners of mouth, Depressed nas... OMIM:614744
White-Kernohan Syndrome
Retrognathia, Hypothyroidism, Underdeveloped nasal alae, Wide mouth, Short nose, Thin upper lip v... OMIM:619426
Lig4 Syndrome
Hypothyroidism, Prominent nose, Cryptorchidism, Hypotelorism OMIM:606593
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Wide anterior fontanel, Delayed eruption of prima... OMIM:620099
Orofaciodigital Syndrome I
Bifid tongue, Wide nasal bridge, Median cleft lip, Alveolar ridge overgrowth, Ovarian cyst, Cleft... OMIM:311200
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Deeply set eye, Optic atrophy, Broad alveolar ridges, Annular pancreas, Micrognathia... OMIM:616975
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Hermansky-Pudlak Syndrome 10
Apnea, Retrognathia, Smooth philtrum, Hypotelorism OMIM:617050
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Hypertelorism, Cleft lip, Cryptorchidism, Cleft palate, Hypotelorism OMIM:619123
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Hypotelorism ORPHA:2163
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, High palate, Death in infancy, Bilateral cryptorchidism, Respiratory distress, Unil... OMIM:300219
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tooth malposition, Optic atrophy, Microdontia, Hypodontia, Oligodontia, Micrognathia,... ORPHA:363417
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Mandibular prognathia, Dental crowding, Short nose, Hypertelorism, Tented upper l... OMIM:300143
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Macroglossi... ORPHA:226313
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Elevated circulat... OMIM:610978
Tetrasomy 5P
Pulmonary arterial hypertension, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Hyd... ORPHA:3309
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the ga... ORPHA:2255
Smith-Lemli-Opitz Syndrome
Bifid tongue, Wide nasal bridge, Optic atrophy, Micrognathia, Holoprosencephaly, Tooth agenesis, ... ORPHA:818
Maternal Phenylketonuria
High palate, Long philtrum, Wide nasal bridge, Esophageal atresia, Micrognathia, Anteverted nares... ORPHA:2209
Nance-Horan Syndrome
Mandibular prognathia, Prominent nose, Supernumerary tooth, Prominent nasal bridge, Abnormality o... ORPHA:627
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, High palate, Respiratory distress ORPHA:596
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent maxillary central... ORPHA:364028
Steinfeld Syndrome
Holoprosencephaly, Iris coloboma, Abnormal heart morphology, Retinal coloboma OMIM:184705
Chromosome 15Q14 Deletion Syndrome
Recurrent viral upper respiratory tract infections, Short philtrum, Everted lower lip vermilion, ... OMIM:616898
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Tongue atrophy, Respiratory distress, Dyspn... OMIM:211530
Craniopharyngioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Optic atro... ORPHA:54595
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Tooth malposition, Deeply set eye, Convex nasal ridge, Long nose, Diabetes mellit... OMIM:616541
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Selective tooth agenesis, Microdontia, Depressed nasal tip, Cleft palate, Choanal atresia, Absenc... OMIM:129900
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Wide nasal bridge, Respiratory distress, Microretrognathia, Hypertelorism ORPHA:89844
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Coloboma, Branchial anomaly, Ventricular septal defect, Bicuspid a... ORPHA:453499
Lymphedema, Primary, With Myelodysplasia
Hypotelorism OMIM:614038
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Bronchiectasis, Asthma, Supernumerary tooth, Recurrent pneumonia, Recurrent upper re... OMIM:619752
Phosphoribosylpyrophosphate Synthetase Superactivity
Convex nasal ridge, High palate, Wide mouth, Short nose, Depressed nasal bridge, Cryptorchidism, ... OMIM:300661
Neurogenic Arthrogryposis Multiplex Congenita
Micrognathia, Hypertelorism, Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Widely spaced teeth, Respiratory distress, Depressed nasal bridge, Carious tee... OMIM:617102
Pfeiffer Syndrome Type 3
High palate, Aqueductal stenosis, Respiratory distress, Anal atresia, Short nose, Intestinal malr... ORPHA:93260
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Long philtrum, Hydrocephalus, Submucous cleft hard palate, Respiratory distress, Thi... OMIM:612863
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
High palate, Long philtrum, Wide mouth, Deeply set eye, Thick lower lip vermilion, Micrognathia, ... OMIM:309590
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
Cryptogenic Organizing Pneumonia
Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,... ORPHA:1302
Pleural Mesothelioma
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough ORPHA:50251
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress ORPHA:77260
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Rectal prolapse, Narrow palate, Wide nasal bridge, Delayed eruption of teeth, Thyro... OMIM:235510
Marshall Syndrome
Thick upper lip vermilion, Pierre-Robin sequence, Long philtrum, Macrodontia of permanent maxilla... OMIM:154780
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome
Convex nasal ridge, Depressed nasal ridge, Deep philtrum, Tented upper lip vermilion, Malar flatt... ORPHA:2104
Charge Syndrome
Respiratory insufficiency, Optic atrophy, Delayed eruption of teeth, Anterior hypopituitarism, Ab... ORPHA:138
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, Tracheomalacia, Everted lower lip vermilion, Optic disc c... OMIM:234100
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, High palate, Respiratory distress OMIM:620011
Microphthalmia, Syndromic 3
Anterior pituitary hypoplasia, Esophageal atresia, Optic nerve aplasia, Optic nerve hypoplasia, C... OMIM:206900
Mosaic Trisomy 9
High palate, Spina bifida, Micrognathia, Intestinal malrotation, Hypertelorism, Cryptorchidism, C... ORPHA:99776
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Wide nasal bridge OMIM:262020
Anaplastic Thyroid Carcinoma
Nodular goiter, Respiratory distress, Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Up... ORPHA:142
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Cough, Respiratory failure, T... OMIM:263000
Duplication Of The Pituitary Gland
Retrognathia, Encephalocele, Wide mouth, Volvulus, Supernumerary tooth, Abnormal hypothalamus mor... ORPHA:314621
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Ramos-Arroyo Syndrome
Choanal stenosis, Long philtrum, Abnormal autonomic nervous system physiology, Aganglionic megaco... ORPHA:1051
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Deeply set eye, Hypotelorism OMIM:616937
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Long philtrum, Wide nasal bridge, Widely spaced teeth, Short lingual frenulum, Microdontia, Small... OMIM:619479
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Pierre-Robin sequence, Micrognathia, Respiratory distress, Short nose, Anteriorly placed anus, Do... OMIM:217980
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Prominent nose, Mulberry molar, Dia... OMIM:302350
Thyroid Lymphoma
Hypothyroidism, Hyperthyroidism, Respiratory distress, Hashimoto thyroiditis, Upper airway obstru... ORPHA:97285
Pallister-Hall Syndrome
Respiratory insufficiency, Precocious puberty, Gonadotropin deficiency, Bifid uvula, Thyroid hypo... ORPHA:672
Succinic Acidemia
Respiratory distress OMIM:600335
Iniencephaly
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Con... ORPHA:63259
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy ORPHA:26792
Craniosynostosis 6
Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Right unilambdoid synostosis, Spin... OMIM:616602
Trichorhinophalangeal Syndrome Type 1 And 3
High palate, Long philtrum, Micrognathia, Supernumerary tooth, Bulbous nose, Long upper lip, Abno... ORPHA:77258
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Retrognathia, Wide nasal bridge, Duodenal atresia, Lobar holoprosencephaly, Microretrognathia, Op... ORPHA:468631
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Optic atrophy, Anterior hypopituitarism, A... ORPHA:1435
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... ORPHA:264675
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
High palate, Death in infancy, Irregular respiration, Respiratory distress, Depressed nasal bridg... OMIM:604377
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Micrognathia, Respiratory distress, Short nose, Apnea,... OMIM:608013
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Secondary growth hormone deficien... ORPHA:2495
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Short nose, Thin upper lip vermilion, Hypertelorism, Tented upper lip vermilio... OMIM:615716
Mosaic Variegated Aneuploidy Syndrome
Wide nose, Hypothyroidism, Stomach cancer, Depressed nasal ridge, Micrognathia, Intestinal polypo... ORPHA:1052
Radio-Renal Syndrome
Retrognathia, Convex nasal ridge, Micrognathia, Respiratory distress, Pleural effusion, Downturne... ORPHA:3015
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Mandibular prognathia, High palate, Long philtrum, Short philtrum, Hypertelorism, Depressed nasal... OMIM:620001
Autosomal Recessive Robinow Syndrome
Bifid tongue, Wide nasal bridge, Ectopic anus, Micrognathia, Gingival overgrowth, Orofacial cleft... ORPHA:1507
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Respiratory distress, Depressed nasal bridge, Proptosis, Respiratory failure OMIM:617895
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Upper airway obstruction, Respiratory distress, Swollen lip, Tongue edema ORPHA:100057
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary arterial hypertension, Diabetes insipidus, Anterior pituitary hypoplasia, Deeply set ey... OMIM:619534
Isolated Sedoheptulokinase Deficiency
Abnormality of globe location, Steatorrhea, Neonatal asphyxia, Shallow orbits, Hypotelorism ORPHA:440713
10Q22.3Q23.3 Microdeletion Syndrome
Breast aplasia, Microretrognathia, Intestinal polyposis, Hypertelorism, Depressed nasal bridge, A... ORPHA:276413
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Diab... ORPHA:36238
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea OMIM:267450
Cleidocranial Dysplasia 1
Enamel hypoplasia, Narrow palate, High palate, Delayed eruption of primary teeth, Hypoplastic fro... OMIM:119600
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... ORPHA:411703
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Microtia-Anotia
Holoprosencephaly OMIM:600674
Autoimmune Polyendocrinopathy Type 3
Thymoma, Autoimmune hypoparathyroidism, Atrophic gastritis, Anterior pituitary dysgenesis, Type I... ORPHA:227982
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Hypotelo... OMIM:620133
Meckel Syndrome, Type 1
Lobulated tongue, Cleft upper lip, Enlarged naris, Wide mouth, Natal tooth, Micrognathia, Anencep... OMIM:249000
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Widely spaced teeth,... ORPHA:90024
Mandibulofacial Dysostosis, Guion-Almeida Type
Deep philtrum, Esophageal atresia, Micrognathia, Respiratory distress, Short nose, Anteverted nar... OMIM:610536
Combined Oxidative Phosphorylation Deficiency 55
High palate, Depressed nasal bridge, Anteverted nares, Open mouth, Hypotelorism OMIM:619743
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Craniofacial Dyssynostosis With Short Stature
Brachycephaly, Patent ductus arteriosus, Ventricular septal defect, Brachyturricephaly, Hydroceph... OMIM:218350
Autoimmune Polyendocrinopathy Type 4
Thymoma, Atrophic gastritis, Anterior pituitary dysgenesis, Type I diabetes mellitus, Primary adr... ORPHA:227990
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Hydrocephalus, Midface retrusion, Craniosynostosis OMIM:612247
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress, Optic atrophy, Cryptorchidism OMIM:615597
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Respiratory insufficiency, Underdeveloped nasal alae, High palate, Wide nasal bridge, Anteverted ... OMIM:616158
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H... ORPHA:91359
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Craniosynostosis OMIM:614416
Orofaciodigital Syndrome Xiv
Lobulated tongue, Bifid tongue, Natal tooth, Micrognathia, Supernumerary tooth, Microretrognathia... OMIM:615948
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Enamel hypoplasia, Carious teeth, Convex nasal ridge OMIM:614564
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Isolated Arrhinia
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Respiratory distre... ORPHA:1134
Osteoglophonic Dysplasia
Eruption failure, Mandibular prognathia, High palate, Long philtrum, Nasal congestion, Respirator... OMIM:166250
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microdontia, Micrognathia, Bifid uvula, Smooth philtrum, Prominent nose, Hypertelorism, Malar fla... OMIM:612474
Arachnoid Cyst
Encephalocele, Lower limb muscle weakness, Hydrocephalus, Holoprosencephaly, Facial palsy ORPHA:2356
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distress, Apnea... OMIM:610921
Diaphanospondylodysostosis
Respiratory insufficiency, Depressed nasal ridge, Micrognathia, Respiratory distress, Short nose,... OMIM:608022
Oromandibular Dystonia
Abnormal mandible morphology, Abnormal lip morphology, Respiratory distress, Abnormality of the t... ORPHA:93958
Distal Monosomy 12Q
Wide anterior fontanel, Long philtrum, Esophageal atresia, Micrognathia, Pyloric stenosis, Pituit... ORPHA:96149
Microtia
Holoprosencephaly ORPHA:83463
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Nasal polyposis, Sinusitis, Ciliary dyskinesia OMIM:606763
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Death in infancy, Delayed eruption of teeth, Respirator... OMIM:184260
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Hyperlysinemia
High palate, Depressed nasal ridge, Recurrent pneumonia, Smooth philtrum, Hypotelorism ORPHA:2203
Trichothiodystrophy
Retrognathia, Enamel hypoplasia, Hypoplasia of mandible relative to maxilla, Bronchospasm, Hypert... ORPHA:33364
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress ORPHA:2596
Cog2-Cdg
Small pituitary gland ORPHA:435934
Ulnar-Mammary Syndrome
Anterior pituitary hypoplasia, Hypodontia, Pyloric stenosis, Anal atresia, Axillary apocrine glan... OMIM:181450
Wiedemann-Rautenstrauch Syndrome
Convex nasal ridge, Hypoplasia of the thymus, Delayed eruption of teeth, Micrognathia, Hypoplasti... OMIM:264090
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Long philtrum, Prominent median palatal raphe, Pyloric stenosis,... ORPHA:363705
Smith-Lemli-Opitz Syndrome
Precocious puberty, Long philtrum, Wide nasal bridge, Death in infancy, Broad alveolar ridges, Mi... OMIM:270400
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma ORPHA:2260
Meckel Syndrome
Pancreatic cysts, Aplasia/Hypoplasia of the tongue, Encephalocele, Depressed nasal ridge, Optic a... ORPHA:564
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Long philtrum, Jejunal atresia, Micrognathia, Short nose, Hyperteloris... OMIM:618820
Coffin-Siris Syndrome 12
Underdeveloped nasal alae, Hypothyroidism, Noncommunicating hydrocephalus, High palate, Deeply se... OMIM:619325
Malaria
Respiratory distress ORPHA:673
Degcags Syndrome
Micrognathia, Smooth philtrum, Pneumonia, Intestinal atresia, Prominent nose, Jejunal atresia, As... OMIM:619488
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Optic atrophy, Death in infancy, Respiratory distress, Respiratory fai... OMIM:614299
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft mandible, Pierre-Robin sequence, High palate, Prominent nose, Micrognathia, Cleft lower alv... OMIM:268305
Tularemia
Oral ulcer, Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Pleural effusion, C... ORPHA:3392
Bor Syndrome
Branchial cyst ORPHA:107
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Galloway-Mowat Syndrome 9
Hypertelorism, Hiatus hernia, Hypotelorism OMIM:619603
Hallermann-Streiff Syndrome
Respiratory insufficiency, Hypothyroidism, Underdeveloped nasal alae, Convex nasal ridge, Natal t... ORPHA:2108
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Small pituitary gland, Ectopic posterior p... OMIM:619476
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Central sleep apnea, Open mouth, Macrodontia of permanent maxillary central incisor, Thick vermil... OMIM:620114
Autosomal Dominant Robinow Syndrome
Bifid tongue, Wide nasal bridge, Micrognathia, Gingival overgrowth, Supernumerary tooth, Short no... ORPHA:3107
Intellectual Developmental Disorder, Autosomal Dominant 53
Wide mouth, Intestinal malrotation, Cryptorchidism, Duodenal atresia, Hypotelorism OMIM:617798
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... ORPHA:91355
Hennekam Syndrome
Respiratory insufficiency, Retrognathia, Wide nasal bridge, Delayed eruption of teeth, Malabsorpt... ORPHA:2136
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Aganglionic megacolon, Hydrocephalus, ... OMIM:239300
Avian Influenza
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D... ORPHA:454836
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, High palate, Exertio... ORPHA:98915
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Microdontia, Supernumerary tooth, Diastema, Agenesis of molar, Delayed puberty, Anosmia, Cryptorc... OMIM:619718
Kniest Dysplasia
Respiratory distress, Depressed nasal bridge, Proptosis, Tracheomalacia, Malar flattening, Cleft ... OMIM:156550
Naegeli-Franceschetti-Jadassohn Syndrome
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Abnormality of dental morphology, Sup... ORPHA:69087
Microlissencephaly-Micromelia Syndrome
Long philtrum, Respiratory distress, Short nose, Hypoparathyroidism, Abnormal calcium-phosphate r... ORPHA:50810
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Conical tooth, Underdeveloped nasal alae, Rhinitis, Everted upper lip vermilion, Microdontia, Hyp... OMIM:305100
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia, Oligodontia of primary teeth, Agenesis of permanent molar OMIM:604625
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Maternal diabetes, Hypoxemia... ORPHA:70588
Cranioectodermal Dysplasia 1
Enamel hypoplasia, High palate, Wide nasal bridge, Widely spaced teeth, Microdontia, Hypodontia, ... OMIM:218330
Bloom Syndrome
Prominent nose, Bronchiectasis, Agenesis of maxillary lateral incisor, Type II diabetes mellitus,... OMIM:210900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Delayed eruption of teeth, Micrognathia, Prominent nasolabial fold, Thyroid hy... OMIM:619503
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Doors Syndrome
Wide nasal bridge, Optic atrophy, Short lingual frenulum, Adrenal hyperplasia, Spina bifida occul... ORPHA:79500
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress, Optic atrophy ORPHA:79097
Nipah Virus Disease
Cough, Respiratory distress, Recurrent pharyngitis ORPHA:99825
Coffin-Siris Syndrome 1
Conical tooth, Delayed eruption of teeth, Microdontia, Spina bifida occulta, Cleft palate, Choana... OMIM:135900
Spinal muscular atrophy, type I, with congenital bone fractures
High palate, Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Decreased serum estradiol, Aplasia of the ovary, Absence of second... ORPHA:2232
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Gingival overgro... OMIM:619148
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, High palate, Hypogonadism, Delayed eruption of teeth, Microdontia, Annular... OMIM:268400
Developmental And Epileptic Encephalopathy 80
High palate, Long philtrum, Wide mouth, Death in infancy, Wide nasal bridge, Micrognathia, Hypert... OMIM:618580
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Respiratory distress, Tachypnea ORPHA:45452
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, Pleural eff... ORPHA:2414
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Interstitial pneumoni... OMIM:610913
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... ORPHA:91351
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Hydrocele testis OMIM:620062
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypodontia, Narrow nasal bridge, Respiratory distress, Short nose ORPHA:544503
Joubert Syndrome 14
Meningocele, Deeply set eye, Encephalocele, Optic atrophy, Hydrocephalus, Short philtrum, Tented ... OMIM:614424
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Exertional dyspnea, Optic atrophy, Respiratory distress, Respiratory failure, Death ... OMIM:220110
Pachyonychia Congenita
Angular cheilitis, Natal tooth, Advanced eruption of teeth, Respiratory distress, Oral leukoplakia ORPHA:2309
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Cleft palate, Micrognathia, Bifid uvula, Respiratory distress OMIM:606164
Cardioacrofacial Dysplasia 2
Conical tooth, Mandibular prognathia, Deep philtrum, Hypodontia, Prominent nasal tip, Short philt... OMIM:619143
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Dentinogenesis imperfecta, High palate, Long philtrum, Repeated pneumo... ORPHA:536467
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, High palate, Deeply set eye, Hypotelorism, Esophageal varix, Emphysema... OMIM:613658
Mogs-Cdg
Retrognathia, Hypothyroidism, Wide nose, Hypoventilation, High palate, Optic atrophy, Absent brai... ORPHA:79330
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Peters-Plus Syndrome
Cleft upper lip, Bilobate gallbladder, Wide anterior fontanel, Widely spaced teeth, Long philtrum... OMIM:261540
Raine Syndrome
Microdontia, Micrognathia, Cleft palate, Gingival overgrowth, Choanal atresia, Hydrocephalus, Sho... OMIM:259775
Monosomy 13Q14
Wide nasal bridge, Micrognathia, Hypertelorism, Holoprosencephaly, Prominent nasal bridge ORPHA:1587
Schwartz-Jampel Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Dental malocclusion, High palate, Lon... ORPHA:800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Coloboma, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defe... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Coloboma, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defe... ORPHA:352665
Solitary Bone Cyst
Muscular edema, Abnormal spinal cord morphology, Abnormal parietal bone morphology ORPHA:83468
Rubinstein-Taybi Syndrome 1