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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Orofacial cleft, Central diabetes insipidus, Semilobar holoprosencephaly, Hypotelorism, Alobar ho... OMIM:609637
Holoprosencephaly 9
Solitary median maxillary central incisor, Bilateral cleft palate, Optic nerve hypoplasia, Hypopl... OMIM:610829
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Cyclopia, Solitary median maxillary centra... OMIM:147250
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Short nose, Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentrat... OMIM:613038
Developmental And Epileptic Encephalopathy 87
Widely spaced teeth, Hypotelorism, High palate, Wide mouth, Prominent nose, Bulbous nose, Hyperte... OMIM:618916
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Short nose, Hypotelorism, Respiratory distress, High palate, Death in infancy, Mic... OMIM:615042
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Short nose, Gingival fibromatosis, Respiratory distress, Anteverted nares, Gingival... ORPHA:1832
Culler-Jones Syndrome
Hypotelorism, Diabetes insipidus, Anterior pituitary hypoplasia, Cleft upper lip, Cleft palate, H... OMIM:615849
Holoprosencephaly 11
Hypotelorism, Proptosis, Cleft palate, Holoprosencephaly, Cleft lip OMIM:614226
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Hypotelorism, High palate, Bilateral cryptorchidism, Micrognathia, Broad nasal tip, P... OMIM:613544
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Anterior pituitary hypoplasia, Bifid nasal tip, Thick nasal alae, Med... ORPHA:1827
Holoprosencephaly 4
Semilobar holoprosencephaly, Hypotelorism, Median cleft palate, Depressed nasal tip, Absent nasal... OMIM:142946
Holoprosencephaly 3
Abnormality of the nose, Central diabetes insipidus, Cyclopia, Solitary median maxillary central ... OMIM:142945
Acalvaria
Hydrocephalus, Hypertelorism, Holoprosencephaly, Spina bifida ORPHA:945
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypotelorism, Short philtrum, Tooth malposition, High palate, Furrowed tongue, Everted lower lip ... ORPHA:1387
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Microform Holoprosencephaly
Orofacial cleft, Short nose, Cyclopia, Solitary median maxillary central incisor, Maternal diabet... ORPHA:280200
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Hypotelorism, Anteverted nares, High palate, Glossoptosis, Micrognathia, Pierre-Robin... OMIM:613604
Chromosome 1Q41-Q42 Deletion Syndrome
Widely spaced teeth, Hypotelorism, Short philtrum, Anteverted nares, High palate, Cleft upper lip... OMIM:612530
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, Micrognathia, Cleft palate, Mic... ORPHA:141152
Prader-Willi Syndrome Due To Translocation
Retrognathia, Proptosis, Everted lower lip vermilion, Bifid uvula, Wide mouth, Alveolar ridge ove... ORPHA:177907
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Hypertelorism, Holoprosencephaly, Proptosis ORPHA:2165
1Q41Q42 Microdeletion Syndrome
Hypotelorism, Underdeveloped nasal alae, Hypergonadotropic hypogonadism, Cleft palate, Broad nasa... ORPHA:250999
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypotelorism, Short philtrum, Cleft upper lip, Downturned corners of mouth, Smooth philtrum, Hype... OMIM:613192
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Hypotelorism, Short philtrum, Mandibular prognathia, Bilateral cleft lip, ... OMIM:618622
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Holoprosencephaly 7
Solitary median maxillary central incisor, Bilateral cleft palate, Shallow orbits, Unilateral cle... OMIM:610828
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Holoprosencephaly 2
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Proboscis, Anterior pitui... OMIM:157170
Microhydranencephaly, X-Linked
Multiple joint contractures, Holoprosencephaly OMIM:306990
Isolated Exencephaly
Maternal diabetes, Abnormal facial skeleton morphology, Anterior pituitary hypoplasia, Hypoplasia... ORPHA:563612
Intellectual Developmental Disorder, Autosomal Dominant 74
Hypotelorism, Smooth philtrum, Prominent nose, Deeply set eye, Hypertelorism, Thin upper lip verm... OMIM:620688
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Cyclopia, Respiratory distress, Abnormal cranial nerve morphology, Narrow mouth, Mandibular aplas... ORPHA:990
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h... ORPHA:231720
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypoplastic philtrum, Wide mouth, Hypogonadism, Optic atrophy, Anteverted nares, Cryptorchidism, ... OMIM:309580
Non-Distal Duplication 13Q
Thin vermilion border, Short nose, Hypotelorism, High palate, Abnormality of the dentition, Evert... ORPHA:1702
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Microphthalmia/Coloboma 5
Holoprosencephaly, Chorioretinal coloboma, Iris coloboma OMIM:611638
Hartsfield Syndrome
Encephalocele, Non-midline cleft of the upper lip, Lobar holoprosencephaly, Cleft palate, Hyperte... ORPHA:2117
Tonne-Kalscheuer Syndrome
Widely spaced teeth, Hypotelorism, Narrow mouth, Decreased testicular size, Velopharyngeal insuff... OMIM:300978
Pseudotrisomy 13 Syndrome
Cyclopia, Tricuspid atresia, Hypotelorism, Dextrocardia, Encephalocele, Hydrocephalus, Holoprosen... OMIM:264480
Distal Monosomy 7Q36
Optic atrophy, Non-midline cleft of the upper lip, Cryptorchidism, Micrognathia, Cleft palate, Wi... ORPHA:1636
Amyotrophy, Hereditary Neuralgic
Hypotelorism, Long nasal bridge, Narrow mouth, Brachial plexus neuropathy, Cleft palate, Deeply s... OMIM:162100
Frontoocular Syndrome
Hypotelorism, Narrow philtrum, Narrow mouth, High palate, Proptosis, Micrognathia, Prominent nasa... OMIM:605321
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased response to growth hormon... OMIM:618157
Distal Deletion 13Q
Iris coloboma, Anencephaly, Encephalocele, Holoprosencephaly, Hypertelorism, Abnormal cardiac sep... ORPHA:1590
Trigonocephaly 1
Short nose, High, narrow palate, Hypotelorism, Meckel diverticulum, Long philtrum, Wide nasal bridge OMIM:190440
Intellectual Disability And Myopathy Syndrome
Hypotelorism, Incisor macrodontia, Broad nasal tip, Dental malocclusion, Thin upper lip vermilion... OMIM:619719
Agnathia-Otocephaly Complex
Wide nose, Respiratory distress, Narrow mouth, Mandibular aplasia, Micrognathia, Cleft palate, Ho... OMIM:202650
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Optic atrophy, Hypotelorism, Short philtrum, Anteverted nares, Mandibular prognathia, Depressed n... OMIM:618672
10Q22.3Q23.3 Microduplication Syndrome
Hypotelorism, Abnormality of the philtrum, Abnormality of the dentition, Microretrognathia, Deepl... ORPHA:276422
Intellectual Developmental Disorder, Autosomal Recessive 5
Hypotelorism, Short philtrum, Thick upper lip vermilion, Prominent nasal bridge, Smooth philtrum,... OMIM:611091
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Mandi... ORPHA:1908
Filippi Syndrome
Optic atrophy, Thin vermilion border, Short philtrum, Low hanging columella, Serrated incisors, P... OMIM:272440
Trigonocephaly With Short Stature And Developmental Delay
Hypotelorism, Broad alveolar ridges, High palate, Convex nasal ridge, Wide nasal bridge OMIM:314320
2Q23.1 Microduplication Syndrome
Hypotelorism, Dental crowding, Prominent nasal tip, Abnormality of the dentition, Wide mouth, Pro... ORPHA:313947
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Spinal cord compression ORPHA:85168
Auriculocondylar Syndrome 2A
Short mandibular rami, Respiratory distress, Dental crowding, Mandibular condyle hypoplasia, Temp... OMIM:614669
Atkin-Flaitz Syndrome
Anteverted nares, Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral in... ORPHA:1193
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, Hypotelorism, High palate, Convex nasal ridge, Wide nasal bridge ORPHA:3369
Hadziselimovic Syndrome
Thick lower lip vermilion, Hypotelorism, Anteverted nares, High palate, Anal atresia, Prominent n... OMIM:612946
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Coloboma, Ventricular septal defect, Holoprosencephaly OMIM:601357
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, Hyposmia, High palate, Anosmia, Cleft lip, Cryptorchidism... OMIM:612702
Webb-Dattani Syndrome
Retrognathia, Decreased response to growth hormone stimulation test, Diabetes insipidus, Pituitar... OMIM:615926
Trisomy 18P
Thin vermilion border, High, narrow palate, Hypotelorism, Narrow mouth, Facial palsy, Bilateral c... ORPHA:1715
Orofaciodigital Syndrome Ii
Hydrocephalus, Bifid nasal tip, High palate, Agenesis of central incisor, Hypoplasia of the maxil... OMIM:252100
Cranioectodermal Dysplasia
Hypotelorism, Abnormal dental enamel morphology, Anteverted nares, Abnormality of the dentition, ... ORPHA:1515
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Narrow mouth, Anal atresia, Hypotelorism ORPHA:3469
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior pituitary hypoplasia, Decreased response to growth hormone stim... OMIM:221750
Weyers Acrofacial Dysostosis
Solitary median maxillary central incisor, Hypotelorism, Conical tooth OMIM:193530
Monosomy 18P
Short philtrum, Tooth malposition, Hypothyroidism, Carious teeth, Downturned corners of mouth, Cl... ORPHA:1598
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Chromosome 14Q11-Q22 Deletion Syndrome
Optic atrophy, Short nose, Elevated circulating thyroid-stimulating hormone concentration, Anteri... OMIM:613457
Perching Syndrome
High palate, Depressed nasal bridge, Respiratory distress OMIM:617055
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short nose, Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted ... ORPHA:364577
6P22 Microdeletion Syndrome
Hydrocephalus, Abnormal palate morphology, Deeply set eye, Hypotelorism ORPHA:251046
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Short nose, Hypotelorism, Anteverted nares, Intestinal malrotation, Lobar ... OMIM:614701
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, Hypotelorism, High palate, Cleft upper lip, Micrognath... OMIM:602418
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Hydranencephaly OMIM:617967
Orofacial Cleft 15
Palate fistula, Bilateral cleft palate, Cryptorchidism, Hypertelorism, Bulbous nose, Agenesis of ... OMIM:616788
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypotelorism, Hyposmia, Anosmia, Cleft upper lip, Cleft palate, Cryptorchidism, Hypogonadotropic ... OMIM:244200
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, Alobar holoprosencephaly, High palate, Decreased testicular size, Cryptorchidism,... OMIM:615433
Global Developmental Delay With Or Without Impaired Intellectual Development
Oligodontia, Bulbous nose, Hypotelorism, Thin upper lip vermilion OMIM:618330
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Proptosis, Holoprosencephaly, Patent ductus arteriosus, Atrial sept... ORPHA:93274
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypotelorism, Downturned corners of mouth, Prominent nasal bridge, Thick vermilion border, Depres... OMIM:618974
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Esophageal atresia, Diabetes insipidus, Optic nerve hypoplasia, Anterior pitui... ORPHA:3157
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Retrognathia, High, narrow palate, Hypotelorism, Short philtrum, Hydrocephalus, High palate, Micr... OMIM:620156
Intellectual Developmental Disorder, Autosomal Dominant 7
Thick lower lip vermilion, Hypotelorism, Micrognathia, Smooth philtrum, Deeply set eye, Bulbous n... OMIM:614104
Triploidy
Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Narrow mouth, Cryptorchidism, Int... ORPHA:3376
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Short nose, Hypotelorism, Respiratory distress, High palate, Micrognathia, Dental ... ORPHA:329178
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Hypertelorism, Wid... OMIM:618729
Septooptic Dysplasia
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Anterior pituitary... OMIM:182230
Isolated Growth Hormone Deficiency, Type Ii
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s... OMIM:173100
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
16P13.11 Microdeletion Syndrome
Cyclopia, Camptodactyly of finger, Holoprosencephaly, Atrial septal defect, Ventricular septal de... ORPHA:261236
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
High palate, Wide nasal bridge, Depressed nasal bridge, Hypotelorism OMIM:615760
Non-Syndromic Metopic Craniosynostosis
Hypotelorism, Wide nasal bridge ORPHA:3366
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Hypoplastic philtrum, Precocious puberty, Intestinal malrotation, Hypertelorism, Volvulus, Crypto... OMIM:616682
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer... ORPHA:3352
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Elsahy-Waters Syndrome
Bifid nasal tip, Proptosis, Bifid uvula, Broad philtrum, Abnormality of the anus, Long philtrum, ... OMIM:211380
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Camptodactyly of finger, Holoprosencephaly, Deeply set eye, Multiple joint contr... ORPHA:2570
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Short nose, Hypotelorism, Short philtrum, Wide nose, Anteverted nares, Oligodont... ORPHA:391408
Deeah Syndrome
Narrow palate, Retrognathia, Short nose, Decreased response to growth hormone stimulation test, D... OMIM:619004
Microcephaly 29, Primary, Autosomal Recessive
Deeply set eye, Hypoplastic philtrum OMIM:620047
Trisomy 18
Congenital diaphragmatic hernia, Cyclopia, Anencephaly, Spina bifida, Camptodactyly of finger, Ho... ORPHA:3380
49,Xxxxy Syndrome
Wide nose, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia, O... ORPHA:96264
Lambotte Syndrome
Retrognathia, Semilobar holoprosencephaly, Narrow mouth, Convex nasal ridge, Hypertelorism OMIM:245552
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cyclopia, Hypotelorism, Encephalocele, Hydrocephalus, Holoprosencephaly, Umbilical hernia, Abnorm... ORPHA:2166
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormal zygomatic bone morphology, Hypotelorism, Narrow nasal bridge, Mandibular prognathia, Uni... ORPHA:2511
Intellectual Disability, Birk-Barel Type
High, narrow palate, Short philtrum, Narrow nasal bridge, Incisor macrodontia, Micrognathia, Broa... ORPHA:166108
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Myopathy, Meningocele ORPHA:588
Holoprosencephaly 14
Aqueductal stenosis, Cyclopia, Aortic valve atresia, Hydrocephalus, Alobar holoprosencephaly, Hol... OMIM:619895
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Hypotelorism, High palate... ORPHA:556955
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Trichothiodystrophy 8, Nonphotosensitive
Retrognathia, Hypotelorism, Prominent nose, Long philtrum, Thin upper lip vermilion OMIM:619691
Acrootoocular Syndrome
Supernumerary tooth, Grayish enamel, High, narrow palate, Wide nasal base, Decreased response to ... ORPHA:2980
Holoprosencephaly
Congenital diaphragmatic hernia, Cyclopia, Hypotelorism, Encephalocele, Hydrocephalus, Branchial ... ORPHA:2162
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Increased overbite, Low hanging columella, High palate, Talon cusp, ... OMIM:613684
Pde4D Haploinsufficiency Syndrome
Short nose, Elevated circulating parathyroid hormone level, Hypotelorism, Short philtrum, Abnorma... ORPHA:439822
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin vermilion border, Short philtrum, Respiratory distress, Micrognathia, Hypertelorism, Deeply ... ORPHA:261304
Hartsfield Syndrome
Semilobar holoprosencephaly, Hypotelorism, Wide nose, Diabetes insipidus, Alobar holoprosencephal... OMIM:615465
Chromosome 5P13 Duplication Syndrome
Hypotelorism, Short philtrum, Low hanging columella, High palate, Proptosis, Downturned corners o... OMIM:613174
Ritscher-Schinzel Syndrome 4
Narrow palate, Hypotelorism, Short philtrum, High palate, Proptosis, Hypertelorism, Wide mouth, T... OMIM:619435
Periventricular Nodular Heterotopia 9
Everted upper lip vermilion, High palate, Gingival overgrowth, Hypoplastic philtrum OMIM:618918
Richieri-Costa/Guion-Almeida Syndrome
Hypotelorism, Spina bifida occulta, Mandibular prognathia, Cleft upper lip, Cleft palate, Malar f... OMIM:268850
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Anosmia, Decreased testicular size, Cleft palate, Cryptorchidism OMIM:614880
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test OMIM:618160
Cutis Laxa, Autosomal Recessive, Type Iib
Hypotelorism, Hydrocephalus, Narrow nasal ridge, High palate, Malar flattening, Long philtrum, De... OMIM:612940
Ring Chromosome 21 Syndrome
Abnormal heart morphology, Holoprosencephaly ORPHA:1445
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Fg Syndrome Type 1
Small pituitary gland, Hydrocephalus, Dental crowding, Optic nerve hypoplasia, High palate, Choan... ORPHA:93932
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
High palate, Hypotelorism OMIM:616281
W Syndrome
Broad nasal tip, Upper lip pit, Submucous cleft hard palate, Hypertelorism, Broad uvula, Depresse... ORPHA:2804
Schilbach-Rott Syndrome
Long nose, Hypotelorism, Narrow mouth, Micrognathia, Bifid uvula, Prominent nose, Submucous cleft... OMIM:164220
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Anterior pituitary hypoplasia, Pituitary hypothyroidism, Hypertelorism OMIM:619983
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Cyclopia, Alobar holoprosencephaly, Patent foramen ovale, Patent duc... OMIM:301043
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum, Cryptorchi... OMIM:615502
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth, Deeply set eye OMIM:300934
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Small pituitary gland, Carious teeth, Hypodontia, Central adrenal insufficiency,... OMIM:612079
Giacheti Syndrome
Hypotelorism OMIM:612917
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Aganglionic meg... ORPHA:2919
Lenz-Majewski Hyperostotic Dwarfism
Spina bifida occulta, Mandibular prognathia, Anterior pituitary hypoplasia, Abnormality of the de... OMIM:151050
Endocrine-Cerebroosteodysplasia
Hypotelorism, Hydrocephalus, Adrenal hypoplasia, Median cleft palate, Depressed nasal tip, Thick ... OMIM:612651
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypotelorism, Short philtrum, Low hanging columella, High palate, Micrognathia, Wide mouth, Thick... OMIM:300986
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177901
Multiple Pterygium-Malignant Hyperthermia Syndrome
Advanced eruption of teeth, Hypotelorism, Broad alveolar ridges, Exaggerated cupid's bow, Narrow ... ORPHA:2215
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Hypotelorism, Respiratory distress, Unilateral breast hypoplas... OMIM:300968
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Cryptorchidism, Elevated circulating follicle stimulating hormone ... OMIM:620501
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno... ORPHA:2751
Clark-Baraitser syndrome
Thick lower lip vermilion, Anteverted nares, Prominent median palatal raphe, Exaggerated median t... OMIM:300602
Verheij Syndrome
Coloboma, Truncus arteriosus, Intrauterine growth retardation, Short neck, Ventricular septal def... OMIM:615583
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98754
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Proptosis, Abnormality of ... ORPHA:264200
Trisomy 13
Optic atrophy, High, narrow palate, Hypotelorism, Abnormality of the dentition, Cleft palate, Mal... ORPHA:3378
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177904
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Hypotelorism, Holoprosencephaly, Tetralogy of Fallot, Overriding aorta, Iris coloboma ORPHA:3186
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Hypotelorism OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Muscular dystrophy, Transposition of the great arteries, Encephalocele, Hyd... OMIM:253800
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Trisomy 1Q
Hypotelorism, Wide nose, Hydrocephalus, Narrow mouth, Anal atresia, Cleft palate, Microretrognath... ORPHA:261344
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Hypotelorism, Diabetes insipidus, High palate, Pancreatic aplasia, L... OMIM:618500
Alfadhel Syndrome
Thin vermilion border, Retrognathia, Short philtrum, Nasal flaring, Smooth philtrum, Bulbous nose... OMIM:620655
Chitayat Syndrome
Respiratory distress, Anteverted nares, Proptosis, Thick vermilion border, Hypertelorism, Depress... OMIM:617180
Harrod Syndrome
Long nose, Hypotelorism, Narrow mouth, High palate, Dental malocclusion, Cryptorchidism ORPHA:2115
Chilton-Okur-Chung Neurodevelopmental Syndrome
Agenesis of incisor, Widely spaced teeth, Short philtrum, Low hanging columella, Anteverted nares... OMIM:619841
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, High palate, Cleft palate, Abnormal motor nerve conduction ve... OMIM:614399
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Long nose, Hypotelorism, Short philtrum, Mandibular prognathia, Prominent nose, Deeply set eye, C... OMIM:300486
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Central hypothyroidism, Decreased testicular size, Abnormality of ... OMIM:616113
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal palate morphology, Hypotelorism, Narrow nasal bridge, Mandibular prognathia, Micrognathi... ORPHA:3082
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Hypotelorism, Oligodontia, Narrow mouth, Hypothyroidism, Downturned corners of m... OMIM:616817
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus, Ventricular septal defect, Iris coloboma ORPHA:77298
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Lowry-Maclean Syndrome
Retrognathia, High, narrow palate, Short nose, Hydrocephalus, Midgut malrotation, Proptosis, Talo... ORPHA:2409
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Branchial anomaly, Webbed neck, Abnormal mitral valve morphology ORPHA:1131
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Downturned corners of mouth, Hypotelorism OMIM:618718
Oculodentodigital Dysplasia
Broad alveolar ridges, Tooth agenesis, Taurodontia, Optic atrophy, Anteverted nares, Carious teet... ORPHA:2710
Vici Syndrome
Optic atrophy, Hypotelorism, High palate, Death in infancy, Depressed nasal tip, Hypertelorism ORPHA:1493
Fetal Akinesia Deformation Sequence 2
High palate, Micrognathia, Cleft palate, Hypertelorism, Tented upper lip vermilion, Cryptorchidis... OMIM:618388
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Small pituitary gland OMIM:615925
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Anteverted nares, Abnormality of primary teeth, Incisor macrodontia, High p... ORPHA:438216
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Delayed puberty, High, narrow palate, Widely spaced teeth, Short philtrum, Narrow nasal bridge, D... ORPHA:466791
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short nose, Supernumerary nipple, Hypotelorism, Short philtrum, Anteverted nares, Cryptorchidism,... OMIM:618454
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Arthrogryposis, Distal, Type 12
Dental crowding, Agenesis of maxillary incisor, High palate, Cryptorchidism, Hypertelorism, Hydro... OMIM:620545
Pallister-Hall Syndrome
Hypothalamic hamartoma, Decreased circulating cortisol level, Decreased response to growth hormon... OMIM:146510
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Ectopic pos... ORPHA:67045
Odontochondrodysplasia
Retrognathia, Short nose, Delayed eruption of teeth, Respiratory distress, Death in infancy, Dent... ORPHA:166272
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Micrognathia, Facial palsy, Respiratory distress OMIM:300580
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Cr... OMIM:614416
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Hypotelorism ORPHA:1952
Trichothiodystrophy 3, Photosensitive
Hypotelorism, Meckel diverticulum, Bilateral cryptorchidism, Eclabion, Carious teeth, Pyloric ste... OMIM:616395
Alobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno... ORPHA:93926
Lobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno... ORPHA:93924
Semilobar Holoprosencephaly
Solitary median maxillary central incisor, Abnormality of the endocrine system, Bifid uvula, Abno... ORPHA:220386
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Hypertelorism, Wid... OMIM:618067
Chromosome 15Q11.2 Deletion Syndrome
Hypotelorism, Irregular dentition, Micrognathia, Cleft palate, Smooth philtrum, Bulbous nose, Hyp... OMIM:615656
Alkuraya-Kucinskas Syndrome
Short nose, Hypotelorism, Hydrocephalus, Anteverted nares, High palate, Micrognathia, Hypertelori... OMIM:617822
16P11.2P12.2 Microdeletion Syndrome
Orofacial cleft, Long nose, Short nose, Hypotelorism, Anteverted nares, Open mouth, Microretrogna... ORPHA:261211
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Holoprosencephaly 1
Cyclopia, Hypotelorism, Alobar holoprosencephaly, Ethmocephaly, Single ventricle OMIM:236100
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Marbach-Schaaf Neurodevelopmental Syndrome
Hypotelorism, Downturned corners of mouth, Broad nasal tip, Submucous cleft hard palate, Thin upp... OMIM:619680
Zimmermann-Laband Syndrome
Supernumerary tooth, Wide nose, Gingival fibromatosis, Anterior open-bite malocclusion, High pala... ORPHA:3473
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Respirat... OMIM:619383
Distal Deletion 10Q
Short nose, Hypotelorism, Spina bifida occulta, Facial diplegia, High palate, Proptosis, Anal atr... ORPHA:96148
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Thin vermilion border, Retrognath... OMIM:601812
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Optic atrophy, Respiratory distress, Hydrocephalus, Anteverted nares, Narrow mouth... ORPHA:1555
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypotelorism, Narrow mouth, High palate, Micrognathia, Malar flattening, Deeply set eye, Cryptorc... OMIM:602471
Congenital Disorder Of Glycosylation, Type Iif
Deeply set eye, Hypotelorism, Short philtrum OMIM:603585
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Retrognathia, Thin vermilion border, High, narrow palate, Short philtrum, Respirat... ORPHA:2707
Orofaciodigital Syndrome Iii
Supernumerary tooth, Microdontia, Hypertelorism, Bifid uvula, Tongue nodules, Bulbous nose, Bifid... OMIM:258850
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Pfeiffer Syndrome Type 2
Short nose, Aqueductal stenosis, Respiratory distress, Hydrocephalus, High palate, Choanal atresi... ORPHA:93259
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Talon cusp, Microdontia, Cleft palate, Hypertelorism, Diastema, Deep philtrum OMIM:605282
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Metacarpal synostosis, Brachydactyly ORPHA:35099
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Death in adolescence, Respiratory distress OMIM:619751
Proboscis Lateralis
Cyclopia, Proptosis, Holoprosencephaly, Chorioretinal coloboma, Optic disc coloboma, Patent ductu... ORPHA:141099
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Concave nasal ridge, Respiratory distress OMIM:245590
Mitochondrial Pyruvate Carrier Deficiency
Long philtrum, Thin upper lip vermilion, Respiratory distress OMIM:614741
Baller-Gerold Syndrome
Short nose, Hypotelorism, Narrow nasal bridge, Narrow mouth, High palate, Proptosis, Anal atresia... ORPHA:1225
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Hypoglossia With Situs Inversus
Respiratory distress, Narrow mouth, High palate, Micrognathia, Microglossia, Hypodontia OMIM:612776
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Small pituitary gland, Hydrocephalus, Hypertelorism, Optic disc pallor OMIM:614195
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypotelorism OMIM:619091
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Bifid uvula, ... OMIM:617412
Temple-Baraitser Syndrome
Everted upper lip vermilion, Wide nose, Delayed eruption of teeth, Anteverted nares, Gingival ove... ORPHA:420561
Glutathionuria
Hypotelorism OMIM:231950
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Hypoplastic nipples, Median cleft palate, Intestinal malrotation, Nat... OMIM:269860
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ... OMIM:616602
Immunodeficiency 95
Recurrent viral upper respiratory tract infections, Respiratory distress OMIM:619773
Cutis Laxa, Autosomal Recessive, Type Iiia
Hypotelorism, Narrow nasal ridge, Narrow mouth, Cryptorchidism, Hypertelorism OMIM:219150
Craniosynostosis 2
Supernumerary tooth, Hypotelorism, Cleft soft palate OMIM:604757
Ring Chromosome 7 Syndrome
Thin vermilion border, Short nose, Hypotelorism, Short philtrum, Anteverted nares, Mandibular pro... ORPHA:1449
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Abnormality of the philtrum, Dyspnea, Choanal atresia, Aplasia/Hypoplasia o... ORPHA:2759
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, High, narrow palate, Respiratory distress, Micrognathia, Smooth philtrum, Hypertel... OMIM:608799
Chromosome 13Q14 Deletion Syndrome
Hypotelorism, High palate, Everted lower lip vermilion, Cryptorchidism, Micrognathia, Holoprosenc... OMIM:613884
Pentasomy X
Plagiocephaly, Clinodactyly of the 5th finger, Abnormal cardiac septum morphology, Radioulnar syn... ORPHA:11
Mosaic Variegated Aneuploidy Syndrome 2
Short nose, Decreased response to growth hormone stimulation test, Hypotelorism, Narrow mouth, Hy... OMIM:614114
Chand Syndrome
Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala... ORPHA:1401
Short Stature-Micrognathia Syndrome
Retrognathia, Hypotelorism, High palate, Micrognathia, Cleft palate, Cryptorchidism OMIM:617164
Diaphanospondylodysostosis
Cleft palate, Myelomeningocele, Respiratory distress ORPHA:66637
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Spina bifida occulta, Oligodontia, Micrognathia, Unilat... ORPHA:1787
Facial Paresis, Hereditary Congenital, 3
Short nose, Short philtrum, Anteverted nares, High palate, Facial palsy, Downturned corners of mo... OMIM:614744
Koolen-De Vries Syndrome
Narrow palate, Widely spaced teeth, Hypotelorism, Pear-shaped nose, High palate, Everted lower li... OMIM:610443
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate, Broad nasal tip, Neonatal death... OMIM:615524
Cohen Syndrome
Optic atrophy, Delayed puberty, High, narrow palate, Decreased response to growth hormone stimula... OMIM:216550
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Long nose, Delayed eruption of teeth, Den... OMIM:257850
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Hypotelorism ORPHA:477673
Moebius Syndrome
Respiratory distress, Facial diplegia, High palate, Abnormality of the dentition, Decreased testi... OMIM:157900
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Short nose, Respiratory distress, Anteverted nares, High palate, Micrognathia, A... ORPHA:314655
Galloway-Mowat Syndrome
Aqueductal stenosis, Hypotelorism, Abnormality of the dentition, Micrognathia, Hypertelorism, Hia... ORPHA:2065
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Aqueductal stenosis, Hypotelorism, Short philtrum, Low hanging columella, Hydrocep... OMIM:619512
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Anterior pituitary hypoplasia, Pyloric stenosis, Prominent nasal bridge, Narro... ORPHA:464306
Saethre-Chotzen Syndrome
Narrow palate, Optic atrophy, Hypotelorism, Open bite, Hypoplasia of the maxilla, Cleft palate, P... ORPHA:794
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Gómez-López-Hernández Syndrome
Hydrocephalus, Turricephaly, Brachycephaly ORPHA:1532
Retinal Dystrophy With Leukodystrophy
Cleft palate, Hypotelorism OMIM:618863
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Supernumerary tooth, Thick nasal alae, Abnormality of the dentition, ... ORPHA:502
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Delayed puberty, Supernumerary tooth, Nephrogenic diabetes insipidus, Carious teeth, Micrognathia... ORPHA:3145
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Optic atrophy, Respiratory distress, Hydrocephalus, Anteverted nares, Gingival ove... OMIM:123790
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hypotelorism, High palate, Micrognathia, Hyperthyroidism, Increased circulating prolactin concent... ORPHA:502423
Trichorhinophalangeal Syndrome, Type Iii
Supernumerary tooth, Dental crowding, Pear-shaped nose, Smooth philtrum, Long philtrum, Bulbous n... OMIM:190351
Cardiofacioneurodevelopmental Syndrome
Hypotelorism, Cryptorchidism, Micrognathia, Cleft palate, Cleft lip, Hypertelorism OMIM:619123
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Seckel Syndrome 7
Prominent nose, Central hypothyroidism, Hypotelorism OMIM:614851
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Panhypophysitis
Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Orthostatic hypotension, Redu... ORPHA:95513
Stormorken Syndrome
Hypotelorism, Short philtrum, Epistaxis, Prominent nose, Deeply set eye OMIM:185070
Jacobsen Syndrome
Optic atrophy, U-Shaped upper lip vermilion, Short nose, Annular pancreas, Hydrocephalus, Antever... OMIM:147791
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Narrow nasal bridge, Cryptorchidism, Central hypothyro... ORPHA:398079
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Retrognathia, Short nose, Widely spaced teeth, Solitary median maxillary central incisor, Hypotel... OMIM:301044
Lethal Recessive Chondrodysplasia
Micrognathia, Macroglossia, Respiratory distress ORPHA:1423
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria ORPHA:178377
Vici Syndrome
Everted upper lip vermilion, Hypotelorism, Wide nose, High palate, Median cleft palate, Cleft upp... OMIM:242840
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Myelomeningocele, Ovarian cyst, Tongue nodules, Alveolar ridge overgrowth... OMIM:311200
Restrictive Dermopathy 2
Rectal prolapse, Respiratory distress, Proptosis, Hypoplastic facial bones, Microretrognathia, Co... OMIM:619793
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, High palate, Respiratory distress ORPHA:254864
Solitary Bone Cyst
Abnormal tibia morphology, Abnormality of the medullary cavity of the long bones, Abnormal pariet... ORPHA:83468
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Abnormality of the sphenoid sinus, Optic nerve compression, Anterior hy... ORPHA:91350
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Recurrent viral upper respiratory tract infections, Everted lower lip vermilion, ... OMIM:616898
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Thick vermilion border, Ma... ORPHA:364028
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Abnorm... ORPHA:1452
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Hypotelorism OMIM:619053
Lig4 Syndrome
Hypotelorism, Hypothyroidism, Type II diabetes mellitus, Prominent nose, Cryptorchidism, Wide nas... OMIM:606593
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Cleidocranial Dysplasia 2
Supernumerary tooth, Wide anterior fontanel, Delayed eruption of primary teeth, Hypoplasia of the... OMIM:620099
Meckel Syndrome 14
Occipital encephalocele, Hypertelorism, Holoprosencephaly, Single ventricle OMIM:619879
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Hermansky-Pudlak Syndrome 10
Retrognathia, Apnea, Hypotelorism, Smooth philtrum OMIM:617050
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co... ORPHA:95512
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Short Stature, Microcephaly, And Endocrine Dysfunction
Long nose, Hypotelorism, Tooth malposition, Cryptorchidism, Hypothyroidism, Prominent nasal bridg... OMIM:616541
Intellectual Developmental Disorder, X-Linked 21
Short nose, Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth, Hyper... OMIM:300143
Smith-Lemli-Opitz Syndrome
Proptosis, Tooth agenesis, Wide mouth, Long philtrum, Optic atrophy, Advanced eruption of teeth, ... ORPHA:818
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... ORPHA:2255
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Short nose, Abnormality of canine, Tooth malposition, Oligodontia, Narrow mouth, A... ORPHA:363417
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Hypotelorism ORPHA:2163
Maternal Phenylketonuria
Deviated nasal septum, Hypotelorism, Esophageal atresia, Anteverted nares, High palate, Micrognat... ORPHA:2209
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Respiratory distress, High palate, Bilateral cryptorchidism, Death in infancy, Unil... OMIM:300219
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Respiratory distress, Dental crowding, Mandibular con... ORPHA:137888
Bardet-Biedl Syndrome 16
Hypogonadism, Respiratory distress OMIM:615993
Steinfeld Syndrome
Median cleft palate, Bifid uvula, Holoprosencephaly, Absent gallbladder, Median cleft upper lip, ... OMIM:184705
Nance-Horan Syndrome
Supernumerary tooth, Mandibular prognathia, Abnormality of the dentition, Prominent nasal bridge,... ORPHA:627
Lymphedema, Primary, With Myelodysplasia
Hypotelorism OMIM:614038
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Phosphoribosylpyrophosphate Synthetase Superactivity
Short nose, Death in childhood, Hypotelorism, High palate, Wide mouth, Convex nasal ridge, Crypto... OMIM:300661
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Coloboma, Increased nuchal translucency, Abnorm... ORPHA:453499
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microdontia, Abnormal nasopharynx morphology, Decreased response to growth hormone stimulation te... OMIM:129900
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome
Depressed nasal ridge, Tented upper lip vermilion, Malar flattening, Convex nasal ridge, Deep phi... ORPHA:2104
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Respiratory distress, Microretrognathia, Hypertelorism, Wide nasal bridge ORPHA:89844
Pfeiffer Syndrome Type 3
Short nose, Aqueductal stenosis, Respiratory distress, High palate, Choanal atresia, Proptosis, A... ORPHA:93260
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Respiratory distress, Carious teeth, Thick vermilion border, Wide nasal brid... OMIM:617102
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Tetrasomy 5P
Short nose, Respiratory distress, Hydrocephalus, Anteverted nares, High palate, Micrognathia, Lon... ORPHA:3309
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenital Muscular Dystrophy, Fukuyama Type
Brachycephaly, Plagiocephaly, Hydrocephalus, Camptodactyly of finger, Dolichocephaly, Dilated car... ORPHA:272
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Death in childhood, High palate, Micrognathia, Thick ... OMIM:618651
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Short nose, Thick lower lip vermilion, Hypotelorism, Short philtrum, Oligodontia, ... OMIM:309590
Ramos-Arroyo Syndrome
Deviated nasal septum, Aganglionic megacolon, Respiratory distress, Smooth tongue, Anteverted nar... ORPHA:1051
White-Kernohan Syndrome
Retrognathia, Short nose, Hypotelorism, Rectovaginal fistula, Anteverted nares, Underdeveloped na... OMIM:619426
Marshall Syndrome
Short nose, Thick lower lip vermilion, Absent frontal sinuses, Anteverted nares, Thick upper lip ... OMIM:154780
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Annular pancreas, Hypotelorism, Duodenal atresia, Broad alveolar ridges, Anteverte... OMIM:616975
Mosaic Trisomy 9
Hypotelorism, High palate, Cryptorchidism, Spina bifida, Intestinal malrotation, Micrognathia, Cl... ORPHA:99776
Bardet-Biedl Syndrome 8
Brachycephaly, Situs inversus totalis, Postaxial polydactyly OMIM:615985
Braddock Syndrome
Micrognathia, Hypotelorism ORPHA:52047
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Retrognathia, Hypotelorism, Optic nerve hypoplasia, Narrow mouth, Proptosis, Lobar holoprosenceph... ORPHA:468631
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, High palate, Respiratory distress OMIM:620011
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Prominent nasal bridge, Mulberry mo... OMIM:302350
Craniofacial Dyssynostosis With Short Stature
Brachycephaly, Hydrocephalus, Brachyturricephaly, Frontal bossing, Abnormal shape of the occiput,... OMIM:218350
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Respiratory distress, High palate, Degeneration of anteri... ORPHA:1145
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Cleft palate, Broad nasal tip, Tented upper lip vermilion, Hypertelorism, Wide nasal ... OMIM:615716
Iniencephaly
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spi... ORPHA:63259
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Potocki-Shaffer Syndrome
Brachycephaly, Turricephaly, Parietal foramina, 2-5 finger cutaneous syndactyly, Brachydactyly OMIM:601224
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Short philtrum, Anteverted nares, Mandibular prognathia, High palate, Tented upper lip vermilion,... OMIM:620001
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Respiratory distress, Hydrocephalus, Anteverted nares, High palate, Smooth p... OMIM:612863
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Long upper lip, High palate, Abnormality of the dentition, Micrognathia, Lon... ORPHA:77258
Microphthalmia, Syndromic 3
Esophageal atresia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Hypothalamic hamartoma... OMIM:206900
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Turricephaly, Hydrocephalus, Bowing of the long bones, Umbilical hernia, Short pal... ORPHA:171839
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Respiratory distress ORPHA:26792
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Retrognathia, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiect... OMIM:235510
Succinic Acidemia
Respiratory distress OMIM:600335
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pa... OMIM:619721
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Wide nose, Stomach cancer, Depressed nasal ridge, Hypothyroidism, Micrognat... ORPHA:1052
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
10Q22.3Q23.3 Microdeletion Syndrome
Hypotelorism, Intestinal polyposis, Breast aplasia, Anteverted nares, Microretrognathia, Hypertel... ORPHA:276413
Craniodigital-Intellectual Disability Syndrome
Brachycephaly, Finger syndactyly, Spina bifida occulta ORPHA:1514
Neurogenic Arthrogryposis Multiplex Congenita
Micrognathia, Hypertelorism, Respiratory distress ORPHA:1143
Familial Nasal Acilia
Respiratory distress, Dyspnea, Chronic rhinitis, Recurrent upper respiratory tract infections, Ch... ORPHA:922
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Short nose, Respiratory distress, Anteverted nares, Na... OMIM:608013
Lessel-Kreienkamp Syndrome
Plagiocephaly, Clinodactyly of the 5th finger, Patent foramen ovale, Pulmonic stenosis, Frontal b... OMIM:619149
Autosomal Recessive Robinow Syndrome
Proptosis, Death in infancy, Wide mouth, Long philtrum, Short philtrum, Anteverted nares, Exagger... ORPHA:1507
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Flat occiput OMIM:618736
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Narrow nasal bridge, Central hypothyroidism, Absence o... ORPHA:398069
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Ventricular septal defect,... ORPHA:94066
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis, Brachycephaly OMIM:612247
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Duplication Of The Pituitary Gland
Supernumerary tooth, Retrognathia, Encephalocele, Abnormal pituitary gland morphology, Abnormal h... ORPHA:314621
Pallister-Hall Syndrome
Hypothalamic hamartoma, Thyroid hypoplasia, Bifid uvula, Central adrenal insufficiency, Accessory... ORPHA:672
Combined Oxidative Phosphorylation Deficiency 55
Hypotelorism, Anteverted nares, High palate, Open mouth, Depressed nasal bridge OMIM:619743
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Esophageal atresia, Respiratory distress, Anteverted nares, Choanal atresia, Microgna... OMIM:610536
Microtia-Anotia
Holoprosencephaly OMIM:600674
Dyskeratosis Congenita, Autosomal Recessive 8
Hypotelorism, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Esophageal stric... OMIM:620133
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Hypotelorism, Deeply set eye OMIM:616937
Ritscher-Schinzel Syndrome 1
Brachycephaly, Prominent occiput, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Tetral... OMIM:220210
Muenke Syndrome
Brachycephaly, Plagiocephaly, Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epi... OMIM:602849
Summitt Syndrome
Plagiocephaly, Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndacty... ORPHA:3210
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Supernumerary tooth, Widely spaced teeth, Conical tooth, Abnormal cranial nerve morphology, Micro... ORPHA:90024
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress ORPHA:77260
Meckel Syndrome, Type 1
Occipital encephalocele, Hypotelorism, Anencephaly, Hydrocephalus, Adrenal hypoplasia, Anal atres... OMIM:249000
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Congenital ... ORPHA:226313
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
X-Linked Centronuclear Myopathy
High palate, Respiratory distress ORPHA:596
Charge Syndrome
Delayed puberty, Anosmia, Tracheoesophageal fistula, Optic atrophy, Abnormal soft palate morpholo... ORPHA:138
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Respiratory distress, Anteverted nares, Downturned corners of mouth, Cleft palate, Pi... OMIM:217980
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Polyhydramnios, Rhizomelic arm shortening, Abnormal fibular epiphysis mo... ORPHA:96190
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Anteverted nares, Mandibular prognathia, Exaggerated cupid's bow, Narrow mouth, Everted lower lip... OMIM:619720
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, High palate, Death in infancy, Irregular respiration, Depressed nasal bridge OMIM:604377
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Oligodontia, Abnormality of the dentition ORPHA:1264
8Q12 Microduplication Syndrome
Brachycephaly, Atrial septal defect, Ventricular septal defect, Short foot ORPHA:228399
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Turricephaly, Finger syndactyly, Split hand, Micromelia, Brachydactyly, Craniosyno... ORPHA:2145
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Widely spaced teeth, Small pituitary gland, Short lingual frenulum, Microdontia, Long philtrum, W... OMIM:619479
Craniopharyngioma
Optic atrophy, Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Abnormal na... ORPHA:54595
Hallermann-Streiff Syndrome
Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Underdeveloped na... OMIM:234100
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Convex nasal ridge, Enamel hypoplasia OMIM:614564
Cleidocranial Dysplasia 1
Narrow palate, Supernumerary tooth, High, narrow palate, Respiratory distress, Absent frontal sin... OMIM:119600
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Hydrocephalus, Unilambdoid synostosis, Clinodactyly OMIM:618577
Orofaciodigital Syndrome Xiv
Supernumerary tooth, Occipital encephalocele, Aplasia of the epiglottis, Cryptorchidism, Microgna... OMIM:615948
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microdontia, Bifid uvula, Long philtrum, Anteverted nares, Malar flattening, Hypertelorism, Bulbo... OMIM:612474
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joint... OMIM:618821
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Frontal bossing, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Synda... OMIM:600325
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, 2-3 toe cutaneous syndactyly, Atrioventricular canal defect, Broad thumb, Frontal ... OMIM:617364
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Proptosis, Depressed nasal bridge, Respiratory distress OMIM:617895
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy, Short philtrum, Proptosis, Alveolar ridge overgrowth, Tented upper lip vermilion, ... OMIM:618346
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Cryptorchidism, Death in childhood, Respiratory distress OMIM:615597
Distal Deletion 12Q
Supernumerary tooth, High, narrow palate, Maturity-onset diabetes of the young, Annular pancreas,... ORPHA:96149
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short nose, Aganglionic megacolon, Short philtrum, Hydrocephalus, Mandibular prognathia, Abnormal... OMIM:239300
Keipert Syndrome
Exaggerated cupid's bow, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip verm... ORPHA:2662
Arachnoid Cyst
Encephalocele, Hydrocephalus, Facial palsy, Holoprosencephaly, Lower limb muscle weakness ORPHA:2356
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Short nose, Cryptorchidism, Aplasia of the nasal bone, Micrognathia, Holoprosencep... OMIM:618820
Non-Distal Duplication 10Q
Brachycephaly, Frontal bossing ORPHA:1695
Isolated Arrhinia
Midline defect of the nose, Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Absent ... ORPHA:1134
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Autoimmune Polyendocrinopathy Type 3
Central diabetes insipidus, Hypergonadotropic hypogonadism, Anterior pituitary dysgenesis, Hashim... ORPHA:227982
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress ORPHA:2596
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Brachycephaly, Preaxial polydactyly, Ventricular septal defect, Bilateral talipes equinovarus, Po... OMIM:618142
Odontochondrodysplasia 1
Respiratory distress, Delayed eruption of teeth, Death in infancy, Dentinogenesis imperfecta, Lon... OMIM:184260
Oromandibular Dystonia
Abnormality of the nose, Abnormality of the temporomandibular joint, Respiratory distress, Abnorm... ORPHA:93958
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Aganglionic megacolon, Hydrocephalus, Broad alveolar ridges, Dental crowding, A... OMIM:270400
Meningioma
Neoplasm of the tongue, Proptosis, Decreased circulating cortisol level, Abnormal hypothalamus ph... ORPHA:2495
Mesomelic Dysplasia, Nievergelt Type
Brachycephaly, Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Clinodac... ORPHA:2633
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Coffin-Siris Syndrome 12
Hypotelorism, Low hanging columella, Anteverted nares, Prominent nasal tip, High palate, Facial p... OMIM:619325
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Meckel Syndrome
Optic atrophy, Anencephaly, Encephalocele, Hydrocephalus, Furrowed tongue, Depressed nasal ridge,... ORPHA:564
Cog2-Cdg
Small pituitary gland ORPHA:435934
Cornelia De Lange Syndrome 2
Brachycephaly, Proximal placement of thumb, Short foot, Hypertrophic cardiomyopathy, Brachydactyl... OMIM:300590
Microtia
Holoprosencephaly ORPHA:83463
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Short nose, Triangular mouth, Short philtrum, Respiratory distress, Dental crowding... OMIM:620369
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Optic disc coloboma ORPHA:2260
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly ORPHA:2528
Malaria
Respiratory distress ORPHA:673
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Small pituitary gland, Downturned corners ... OMIM:619476
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Osteoglophonic Dysplasia
Short nose, Delayed eruption of teeth, Respiratory distress, Anteverted nares, Eruption failure, ... OMIM:166250
Intellectual Developmental Disorder, Autosomal Dominant 53
Hypotelorism, Intestinal malrotation, Wide mouth, Cryptorchidism, Duodenal atresia OMIM:617798
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Aplasia of the epiglottis, High palate, Narrow mouth, Cleft mandible,... OMIM:268305
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Brachycephaly, Patent foramen ovale, Camptodactyly, Bilateral talipes equinovarus, Frontal bossin... OMIM:615539
Galloway-Mowat Syndrome 9
Hypertelorism, Hypotelorism, Hiatus hernia OMIM:619603
Carpenter Syndrome 1
Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu... OMIM:201000
Bor Syndrome
Branchial cyst ORPHA:107
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nip... OMIM:181450
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, Recurrent upper respiratory tract infections, High palate, Persistence of pr... OMIM:619752
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Diabetes insipidus, Hydrocephalus, Anteverted nares, Anterior pituitary hypo... OMIM:619534
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly, Polyhydramnios ORPHA:521390
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Short nose, Short philtrum, Anteverted nares, High palate, Tented upper lip vermilion, Long philt... OMIM:614105
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Patent ductus arteriosus, Patent foramen ovale, Abnormal heart morphology, Umbilic... ORPHA:500159
Wiedemann-Rautenstrauch Syndrome
Narrow nasal ridge, Proptosis, Hypoplastic facial bones, Long philtrum, Narrow nose, Increased se... OMIM:264090
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Respiratory distress OMIM:267450
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Delayed puberty, Supernumerary tooth, Agenesis of molar, Anosmia, Microdontia, Cryptorchidism, Di... OMIM:619718
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Plagiocephaly, Transposition of the great arteries, Patent foramen ovale, Frontal ... OMIM:616789
Autosomal Dominant Robinow Syndrome
Retrognathia, Proptosis, Long philtrum, Anodontia, Short philtrum, Anteverted nares, Oligodontia,... ORPHA:3107
German Syndrome
Brachycephaly, Lymphedema, Camptodactyly of finger, Dolichocephaly, Tetralogy of Fallot, Abnormal... ORPHA:2077
Smith-Magenis Syndrome
Delayed puberty, Short nose, Short philtrum, Anteverted nares, Mandibular prognathia, Hypothyroid... ORPHA:819
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Cranioectodermal Dysplasia 1
High, narrow palate, Widely spaced teeth, Hypotelorism, Anteverted nares, High palate, Everted lo... OMIM:218330
Hyperlysinemia
Depressed nasal ridge, High palate, Smooth philtrum, Hypotelorism ORPHA:2203
Glycosylphosphatidylinositol Biosynthesis Defect 11
Wide nasal bridge, Macroglossia, High palate, Tented upper lip vermilion OMIM:616025
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Hypergonadotropic hypogonadism, Anterior pituitary dysgenesis, Thymom... ORPHA:227990
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly, Transposition of the great arteries, Clinodactyly of the 5th finger... OMIM:619910
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Nonimmune hydrops fetalis, Brach... OMIM:618265
Trichothiodystrophy
Retrognathia, High, narrow palate, Hypotelorism, Enamel hypoplasia, Carious teeth, Hypoplasia of ... ORPHA:33364
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Everted upper lip vermilion, Conical tooth, Respiratory distress, Underdeveloped nasa... OMIM:305100
Isolated Sedoheptulokinase Deficiency
Abnormality of globe location, Steatorrhea, Hypotelorism, Shallow orbits ORPHA:440713
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Advanced eruption of teeth, Short philtrum, Encephalocele, Choanal atresia, Cleft li... OMIM:619148
Craniofaciofrontodigital Syndrome
Respiratory distress, Gingival overgrowth, Prominent median palatal raphe, Proptosis, Dyspnea, Py... ORPHA:363705
Naegeli-Franceschetti-Jadassohn Syndrome
Supernumerary tooth, Decreased number of sweat glands, Yellow-brown discoloration of the teeth, P... ORPHA:69087
Recombinant Chromosome 8 Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Camptodactyly, Pulmonic stenosis, Tetralogy of Fal... OMIM:179613
Diaphanospondylodysostosis
Short nose, Respiratory distress, Depressed nasal ridge, Micrognathia, Cleft palate, Hyperteloris... OMIM:608022
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia OMIM:604625
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Facial palsy, Dyspnea, Crani... OMIM:211530
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Swollen lip, Respiratory distress ORPHA:100057
Coffin-Siris Syndrome 1
Retrognathia, Duodenal ulcer, Microdontia, Intestinal malrotation, Wide mouth, Long philtrum, Int... OMIM:135900
Folinic Acid-Responsive Seizures
Optic atrophy, Apnea, Respiratory distress ORPHA:79097
Microlissencephaly-Micromelia Syndrome
Short nose, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyr... ORPHA:50810
Radio-Renal Syndrome
Retrognathia, High, narrow palate, Respiratory distress, Dyspnea, Downturned corners of mouth, Mi... ORPHA:3015
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Turricephaly, Abnormal metacarpal morphology, Hydrocephalus, Frontal bossing, Brac... ORPHA:93262
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Recurrent upper respiratory tract infections OMIM:263000
Craniofrontonasal Dysplasia
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Fron... ORPHA:1520
Developmental And Epileptic Encephalopathy 80
High palate, Proptosis, Protruding tongue, Death in infancy, Micrognathia, Wide mouth, Tented upp... OMIM:618580
Thyroid Lymphoma
Respiratory distress, Dyspnea, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Hydrocele testis OMIM:620062
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Non-midline cleft of the upper lip, Bilateral cleft palate, Depressed nasal ridge, T... ORPHA:2003
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Band Heterotopia
Hydrocephalus, Plagiocephaly OMIM:600348