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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
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Anteverted nares, ... OMIM:609637
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Bilateral cleft palate, S... OMIM:610829
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Cleft upper lip, Decreased response to growth hormone stimulation test,... OMIM:147250
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Hypopituitarism, Decreased thyroid-stimulating hormone level, Anteverted ... OMIM:613038
Developmental And Epileptic Encephalopathy 87
Widely spaced teeth, Bulbous nose, Prominent nose, Hypotelorism, Hypertelorism, High palate, Wide... OMIM:618916
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Respiratory distress, Micrognathia, Hypotelorism, Death in infancy, Thin upper lip... OMIM:615042
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Proptosis, Retrognathia, Respiratory distress, Anteverted nares, Gingival ... ORPHA:1832
Culler-Jones Syndrome
Ectopic posterior pituitary, Cleft upper lip, Hypopituitarism, Hypogonadism, Cryptorchidism, Hypo... OMIM:615849
Holoprosencephaly 11
Cleft lip, Proptosis, Hypotelorism, Holoprosencephaly, Cleft palate OMIM:614226
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Prominent nasal bridge, Micrognathia, H... OMIM:613544
Acromelic Frontonasal Dysplasia
Bifid nasal tip, Broad nasal tip, Hypopituitarism, Thick nasal alae, Median cleft palate, Encepha... ORPHA:1827
Holoprosencephaly 4
Depressed nasal bridge, Semilobar holoprosencephaly, Depressed nasal tip, Median cleft palate, Hy... OMIM:142946
Holoprosencephaly 3
Depressed nasal bridge, Bifid uvula, Cleft lip, Proptosis, Abnormality of the nose, Proboscis, Sh... OMIM:142945
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida, Hypertelorism ORPHA:945
Cataract-Intellectual Disability-Hypogonadism Syndrome
Depressed nasal bridge, Tooth malposition, Furrowed tongue, Micrognathia, Cryptorchidism, Hypotel... ORPHA:1387
Ane Syndrome
Carious teeth, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth ... ORPHA:157954
Microform Holoprosencephaly
Choanal atresia, Panhypopituitarism, Narrow nasal bridge, Anteverted nares, Tented upper lip verm... ORPHA:280200
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Open mouth, Hypotelorism, Deeply... OMIM:613604
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Broad nasal tip, Cleft upper lip, Supernumerary nipple, Widely spaced tee... OMIM:612530
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Respiratory distress, Temporomandibular joint ankylosis, Micrognathia, Dyspnea, Cle... ORPHA:141152
Prader-Willi Syndrome Due To Translocation
Carious teeth, Micrognathia, Deeply set eye, Everted lower lip vermilion, Anterior pituitary hypo... ORPHA:177907
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Holoprosencephaly, Proptosis, Hypertelorism ORPHA:2165
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Hypotelorism,... ORPHA:250999
Intellectual Developmental Disorder, Autosomal Recessive 13
Wide nasal bridge, Downturned corners of mouth, Cleft upper lip, Hypotelorism, Smooth philtrum, H... OMIM:613192
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Depressed nasal bridge, Bifid uvula, Mandibular prognathia, Bulbous nose, Tented upper lip vermil... OMIM:618622
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Holoprosencephaly 7
Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft... OMIM:610828
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Holoprosencephaly 2
Anterior pituitary agenesis, Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, ... OMIM:157170
Microhydranencephaly, X-Linked
Holoprosencephaly, Multiple joint contractures OMIM:306990
Isolated Exencephaly
Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal facial skeleton morphology, Mate... ORPHA:563612
Intellectual Developmental Disorder, Autosomal Dominant 74
Prominent nose, Hypotelorism, Deeply set eye, Thin upper lip vermilion, Smooth philtrum, Hypertel... OMIM:620688
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia involving the nose, Respiratory distress, Abnormal cranial nerve... ORPHA:990
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Triangular nasal tip, Micrognathia, Open mouth, Cryptorchidism, Protruding tongue, Hypertelorism,... OMIM:309580
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Micrognathia, Cryptorchidism, Hypotelorism, Everted ... ORPHA:1702
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Depressed nasal ridge, Anterior pituitary agenesis, Ectopic anterior... ORPHA:95494
Microphthalmia/Coloboma 5
Holoprosencephaly, Iris coloboma, Chorioretinal coloboma OMIM:611638
Hartsfield Syndrome
Depressed nasal bridge, Encephalocele, Lobar holoprosencephaly, Hypertelorism, Non-midline cleft ... ORPHA:2117
Tonne-Kalscheuer Syndrome
Wide nasal bridge, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth... OMIM:300978
Pseudotrisomy 13 Syndrome
Encephalocele, Complete atrioventricular canal defect, Ventricular septal defect, Hypotelorism, H... OMIM:264480
Distal Monosomy 7Q36
Optic atrophy, Bulbous nose, Micrognathia, Cryptorchidism, Holoprosencephaly, Wide mouth, Non-mid... ORPHA:1636
Amyotrophy, Hereditary Neuralgic
Depressed nasal bridge, Long nasal bridge, Brachial plexus neuropathy, Narrow mouth, Hypotelorism... OMIM:162100
Frontoocular Syndrome
Proptosis, Micrognathia, Prominent nasal bridge, Narrow mouth, Hypotelorism, Narrow philtrum, Hig... OMIM:605321
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Distal Deletion 13Q
Iris coloboma, Encephalocele, Abnormal cardiac septum morphology, Hypertelorism, Holoprosencephal... ORPHA:1590
Trigonocephaly 1
Wide nasal bridge, High, narrow palate, Meckel diverticulum, Long philtrum, Hypotelorism, Short nose OMIM:190440
Intellectual Disability And Myopathy Syndrome
Broad nasal tip, Dental malocclusion, Hypotelorism, Thin upper lip vermilion, Incisor macrodontia... OMIM:619719
Agnathia-Otocephaly Complex
Microglossia, Respiratory distress, Aglossia, Micrognathia, Narrow mouth, Mandibular aplasia, Hol... OMIM:202650
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Depressed nasal ridge, Optic atrophy, Downturned corners of mouth, Anteverted nares, Malar flatte... OMIM:618672
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the dentition, Microretrognathia, Hypotelorism, Deeply set eye, Abnormality of the... ORPHA:276422
Intellectual Developmental Disorder, Autosomal Recessive 5
Wide nasal bridge, Underdeveloped nasal alae, Thick upper lip vermilion, Prominent nose, Prominen... OMIM:611091
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Mandibular prognathia, Spinal dysraphism, Proptosis, Micrognathia, Encephaloce... ORPHA:1908
Filippi Syndrome
Wide nasal bridge, Optic atrophy, Proptosis, Underdeveloped nasal alae, Serrated incisors, Abnorm... OMIM:272440
Trigonocephaly With Short Stature And Developmental Delay
Wide nasal bridge, Hypotelorism, Convex nasal ridge, High palate, Broad alveolar ridges OMIM:314320
2Q23.1 Microduplication Syndrome
Abnormality of the dentition, Dental crowding, Bulbous nose, Prominent nose, Hypotelorism, Thin u... ORPHA:313947
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Spinal cord compression ORPHA:85168
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr... OMIM:614669
Atkin-Flaitz Syndrome
Abnormality of the dentition, Broad nasal tip, Anteverted nares, Thick vermilion border, Everted ... ORPHA:1193
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Wide nasal bridge, Broad secondary alveolar ridge, Hypotelorism, Convex nasal ridge, High palate ORPHA:3369
Hadziselimovic Syndrome
Thick lower lip vermilion, Anteverted nares, Prominent nasal bridge, Hypotelorism, Anal atresia, ... OMIM:612946
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Holoprosencephaly, Anterior encephalocele, Ventricular septal defect OMIM:601357
Cranioectodermal Dysplasia
Abnormality of the dentition, Abnormal dental enamel morphology, Anteverted nares, Hypotelorism, ... ORPHA:1515
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Anosmia, Cleft lip, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed... OMIM:612702
Webb-Dattani Syndrome
Retrognathia, Decreased response to growth hormone stimulation test, Cryptorchidism, Deeply set e... OMIM:615926
Orofaciodigital Syndrome Ii
Depressed nasal bridge, Bifid nasal tip, Broad nasal tip, Hypoplasia of the maxilla, Lobulated to... OMIM:252100
Trisomy 18P
Wide nasal bridge, High, narrow palate, Underdeveloped nasal alae, Bilateral cryptorchidism, Micr... ORPHA:1715
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Anal atresia, Narrow mouth, Hypotelorism ORPHA:3469
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... OMIM:221750
Weyers Acrofacial Dysostosis
Solitary median maxillary central incisor, Conical tooth, Hypotelorism OMIM:193530
Monosomy 18P
Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, H... ORPHA:1598
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Macroglossia, Elevated circulating thyr... OMIM:613457
Perching Syndrome
Respiratory distress, Depressed nasal bridge, High palate OMIM:617055
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Underdeveloped nasal alae, Cleft mandible, Bulbous nose, Sho... ORPHA:364577
6P22 Microdeletion Syndrome
Abnormal palate morphology, Hydrocephalus, Hypotelorism, Deeply set eye ORPHA:251046
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Anteverte... OMIM:614701
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, Micrognathia, Hypotelorism, Solitary median maxillary central incisor, High pala... OMIM:602418
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Holoprosencephaly, Hydrocephalus OMIM:617967
Orofacial Cleft 15
Palate fistula, Bulbous nose, Cryptorchidism, Bilateral cleft palate, Bilateral cleft lip, Hypert... OMIM:616788
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Cleft upper lip, Cryptorchidism, Hypotelorism, Hypogonadotropic hypogonadism, Cleft pala... OMIM:244200
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Decreased testicular size, Cryptorchidism, Short philtrum, Hyperteloris... OMIM:615433
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Bulbous nose, Hypotelorism, Oligodontia OMIM:618330
Thanatophoric Dysplasia Type 2
Proptosis, Encephalocele, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Patent ductus a... ORPHA:93274
Li-Ghorbani-Weisz-Hubshman Syndrome
Depressed nasal bridge, Downturned corners of mouth, Prominent nasal bridge, Hypotelorism, Thick ... OMIM:618974
Septo-Optic Dysplasia Spectrum
Anosmia, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Maternal diabetes, Anteri... ORPHA:3157
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Retrognathia, Long philtrum, Micrognathia, Ileus, Hypotelorism, Short philtr... OMIM:620156
Intellectual Developmental Disorder, Autosomal Dominant 7
Thick lower lip vermilion, Bulbous nose, Micrognathia, Hypotelorism, Deeply set eye, Thin upper l... OMIM:614104
Triploidy
Intestinal malrotation, Micrognathia, Narrow mouth, Cryptorchidism, Hydrocephalus, Hypertelorism,... ORPHA:3376
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Dental malocclusion, Respiratory distress, Micrognathia, Hypotelorism, Thin upper ... ORPHA:329178
Liang-Wang Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618729
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:182230
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:173100
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Cyclopia, Holoprosencep... ORPHA:261236
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Wide nasal bridge, Depressed nasal bridge, High palate, Hypotelorism OMIM:615760
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge, Hypotelorism ORPHA:3366
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Volvulus, Intestinal malrotation, Bulbous nose, Cryptorchidism, Hiatus hernia... OMIM:616682
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Elsahy-Waters Syndrome
Hypertelorism, High palate, Increased cup-to-disc ratio, Wide nose, Hypoplasia of the maxilla, Im... OMIM:211380
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Camptodactyly of finger, Multiple joint contractures, Deeply set eye, Holoprosen... ORPHA:2570
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathia, Narrow mouth, Hypotel... ORPHA:391408
Deeah Syndrome
Narrow palate, Retrognathia, Long philtrum, Decreased response to growth hormone stimulation test... OMIM:619004
Microcephaly 29, Primary, Autosomal Recessive
Hypoplastic philtrum, Deeply set eye OMIM:620047
Trisomy 18
Iris coloboma, Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal defec... ORPHA:3380
49,Xxxxy Syndrome
Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Delayed eruption of teeth, Hypogona... ORPHA:96264
Lambotte Syndrome
Semilobar holoprosencephaly, Retrognathia, Narrow mouth, Convex nasal ridge, Hypertelorism OMIM:245552
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Encephalocele, Hypotelorism, Hydrocephalus, Abnormal cardiac septum morphology,... ORPHA:2166
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Unilateral cleft lip, Narrow nasal bridge, Malar flattening, Hypotelorism, Abnormal zygomatic bon... ORPHA:2511
Intellectual Disability, Birk-Barel Type
High, narrow palate, Broad nasal tip, Narrow nasal bridge, Micrognathia, Open mouth, Tented upper... ORPHA:166108
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Myopathy ORPHA:588
Holoprosencephaly 14
Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventricle, Hydrocephalus... OMIM:619895
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Neonatal insulin-dependent diabetes mellitus, Semilobar holopr... ORPHA:556955
Trichothiodystrophy 8, Nonphotosensitive
Retrognathia, Long philtrum, Prominent nose, Hypotelorism, Thin upper lip vermilion OMIM:619691
Acrootoocular Syndrome
Wide nasal base, High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Decreased r... ORPHA:2980
Holoprosencephaly
Spinal dysraphism, Chorioretinal coloboma, Tetralogy of Fallot, Branchial anomaly, Encephalocele,... ORPHA:2162
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Intestinal malrotation, Prominen... OMIM:613684
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Elevated circulating parathyroid hormone level... ORPHA:439822
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Wide nasal bridge, Respiratory distress, Bulbous nose, Micrognathia, Deeply set eye, Hyperteloris... ORPHA:261304
Hartsfield Syndrome
Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Cleft uppe... OMIM:615465
Chromosome 5P13 Duplication Syndrome
Wide nasal bridge, Proptosis, Downturned corners of mouth, Bulbous nose, Hypotelorism, Short phil... OMIM:613174
Ritscher-Schinzel Syndrome 4
Wide nasal bridge, Narrow palate, Proptosis, Thick vermilion border, Cryptorchidism, Hypotelorism... OMIM:619435
Periventricular Nodular Heterotopia 9
High palate, Gingival overgrowth, Hypoplastic philtrum, Everted upper lip vermilion OMIM:618918
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Malar flattening, Hypotelorism, Deeply set eye, Spina bifida occulta, Mandibular... OMIM:268850
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Anosmia, Decreased testicular size, Cryptorchidism, Cleft palate OMIM:614880
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia OMIM:618160
Cutis Laxa, Autosomal Recessive, Type Iib
Long philtrum, Bulbous nose, Malar flattening, Hypotelorism, Deeply set eye, Narrow nasal ridge, ... 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, Choanal atresia, Pyloric stenosis, Abnormal large intestine morphology, De... ORPHA:93932
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
High palate, Hypotelorism OMIM:616281
W Syndrome
Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Submucous cleft hard palate,... ORPHA:2804
Schilbach-Rott Syndrome
Bifid uvula, Prominent nose, Micrognathia, Narrow mouth, Hypotelorism, Submucous cleft hard palat... OMIM:164220
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia, Hypertelorism OMIM:619983
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Patent foramen ova... OMIM:301043
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Cryptorchidism, Hypertelorism, Thin vermilion border, Incisor macrod... OMIM:615502
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Respiratory distress, Micrognathia, Deeply set eye, Wide mouth OMIM:300934
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Carious teeth, Central adrenal insufficiency, Hypogonadotropic hypogonadis... OMIM:612079
Giacheti Syndrome
Hypotelorism OMIM:612917
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Lenz-Majewski Hyperostotic Dwarfism
Choanal atresia, Abnormality of the dentition, Microglossia, Anteriorly placed anus, Micrognathia... OMIM:151050
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Natal tooth, Thick upper lip vermilion, Depressed nasal tip, Micrognathia, Med... OMIM:612651
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Underdeveloped nasal alae, Micrognathia, Thick vermilion border, Hypotelorism, Short philtrum, Hy... OMIM:300986
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Depressed nasal bridge, Macroglossia, Hypopituitarism, Decreased cir... ORPHA:226307
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177901
Multiple Pterygium-Malignant Hyperthermia Syndrome
Proptosis, Downturned corners of mouth, Abnormal mandible morphology, Long philtrum, Prominent na... ORPHA:2215
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Bifid uvula, Abnormality of the denti... OMIM:300968
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Orofaciodigital Syndrome Type 2
Wide nasal bridge, Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral inciso... ORPHA:2751
Ziegler-Huang Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Cryptorchidism, Anterior p... OMIM:620501
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, S... OMIM:615583
Clark-Baraitser syndrome
Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Anteverted nares, P... OMIM:300602
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
14Q22Q23 Microdeletion Syndrome
Proptosis, Downturned corners of mouth, Underdeveloped nasal alae, Optic nerve aplasia, Micrognat... ORPHA:264200
Trisomy 13
High, narrow palate, Optic atrophy, Abnormality of the dentition, Long philtrum, Cryptorchidism, ... ORPHA:3378
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177904
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Hypotelorism, Overriding aorta, Cyclopia, Holoprosencephaly, Iris coloboma ORPHA:3186
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Craniotelencephalic Dysplasia
Hypotelorism, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Encephalocele, Transposition... OMIM:253800
Trisomy 1Q
Depressed nasal bridge, Microretrognathia, Narrow mouth, Cryptorchidism, Hypotelorism, Hydrocepha... ORPHA:261344
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Type I diabetes mellitus, Semilobar holoprosencephaly, Hypoplasia of the ... OMIM:618500
Alfadhel Syndrome
Retrognathia, Bulbous nose, Smooth philtrum, Hypertelorism, Thin vermilion border, Short philtrum... OMIM:620655
Chitayat Syndrome
Depressed nasal bridge, Proptosis, Respiratory distress, Anteverted nares, Short columella, Thick... OMIM:617180
Harrod Syndrome
Dental malocclusion, Narrow mouth, Cryptorchidism, Hypotelorism, Long nose, High palate ORPHA:2115
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Depressed nasal bridge, Broad nasal tip, Mandibular prognathia, Widely spaced teeth, A... OMIM:619841
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Abnormal motor nerve conduction velocity, High palate, Facial palsy, Cleft ... OMIM:614399
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Prominent nose, Cryptorchidism, Hypotelorism, Deeply set eye, Thin upper lip vermilion, Long nose... OMIM:300486
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Narrow nasal bridge, Micrognathia, Cryptorchidism, Hypotelorism, Abnormal palate morphology, Mand... ORPHA:3082
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Abnormality of the s... OMIM:616113
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Downturned corners of mouth, Micrognathia, Narrow mouth, Cryptorchidism, Hypotelorism, Oligodonti... OMIM:616817
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Iris coloboma, Patent ductus arteriosus 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
High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Pyloric stenosis, Proptosis, Dow... ORPHA:2409
X-Linked Mandibulofacial Dysostosis
Webbed neck, Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology ORPHA:1131
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Downturned corners of mouth, Hypotelorism OMIM:618718
Oculodentodigital Dysplasia
Carious teeth, Micrognathia, Deeply set eye, Hypertelorism, Non-midline cleft of the upper lip, S... ORPHA:2710
Vici Syndrome
Optic atrophy, Depressed nasal tip, Hypotelorism, Death in infancy, Hypertelorism, High palate ORPHA:1493
Fetal Akinesia Deformation Sequence 2
Wide nasal bridge, Micrognathia, Tented upper lip vermilion, Cryptorchidism, Hypertelorism, High ... OMIM:618388
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Respiratory distress, Anteverted n... ORPHA:438216
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
High, narrow palate, Dental crowding, Bilateral cryptorchidism, Supernumerary nipple, Widely spac... ORPHA:466791
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Optic disc coloboma, Supernumerary nipple, ... OMIM:618454
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Odontochondrodysplasia
Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Respi... ORPHA:166272
Arthrogryposis, Distal, Type 12
Dental crowding, Cryptorchidism, Hypertelorism, High palate, Hydrocele testis, Agenesis of maxill... OMIM:620545
Pallister-Hall Syndrome
Natal tooth, Cryptorchidism, Neonatal death, Anal atresia, Holoprosencephaly, Short nose, Precoci... 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
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased serum insulin-like growth f... ORPHA:67045
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Frontalis muscle weakness, Micrognathia OMIM:300580
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Cr... OMIM:614416
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Hypotelorism ORPHA:1952
Trichothiodystrophy 3, Photosensitive
Carious teeth, Natal tooth, Meckel diverticulum, Bilateral cryptorchidism, Hypotelorism, Eclabion... OMIM:616395
Alobar Holoprosencephaly
Cyclopia, High palate, Neural tube defect, Depressed nasal ridge, Abnormal pattern of respiration... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, High palate, Neural tube defect, Depressed nasal ridge, Abnormal pattern of respiration... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, High palate, Neural tube defect, Depressed nasal ridge, Abnormal pattern of respiration... ORPHA:93924
Semilobar Holoprosencephaly
Cyclopia, High palate, Neural tube defect, Depressed nasal ridge, Abnormal pattern of respiration... ORPHA:220386
Chromosome 15Q11.2 Deletion Syndrome
Bulbous nose, Narrow nose, Micrognathia, Irregular dentition, Hypotelorism, Smooth philtrum, Hype... OMIM:615656
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618067
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypotelorism, Hydrocephalus, Hyperteloris... OMIM:617822
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Bulbous nose, Anteverted nares, Open mouth, Hypotelorism, Absent nasal bridge,... ORPHA:261211
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Depressed nasal ridge, Ectopic anterior pituitary gland, Decreased r... ORPHA:90695
Holoprosencephaly 1
Alobar holoprosencephaly, Hypotelorism, Ethmocephaly, Single ventricle, Cyclopia OMIM:236100
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Marbach-Schaaf Neurodevelopmental Syndrome
Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Submucous cleft hard palate... OMIM:619680
Zimmermann-Laband Syndrome
Bifid uvula, Bulbous nose, Micrognathia, Wide mouth, Supernumerary tooth, Hypodontia, Hypertelori... ORPHA:3473
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Optic atrophy, Broad columella, Long philtrum, Respiratory distress, Narrow na... OMIM:619383
Distal Deletion 10Q
Wide nasal bridge, Proptosis, Prominent nose, Prominent nasal bridge, Facial diplegia, Micrognath... ORPHA:96148
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Proptosis, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:601812
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Choanal atresia, Optic atrophy, Depressed nasal bridge, Proptosis, Hypoplasia of the zygomatic bo... ORPHA:1555
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Narrow mouth, Cryptorchidism, Hypotelorism, Deeply set eye, Malar flattening, High ... OMIM:602471
Congenital Disorder Of Glycosylation, Type Iif
Short philtrum, Hypotelorism, Deeply set eye OMIM:603585
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Optic atrophy, Retrognathia, Abnormal lip morphology, Respiratory distress, ... ORPHA:2707
Orofaciodigital Syndrome Iii
Bifid uvula, Bulbous nose, Microdontia, Hypertelorism, Bifid tongue, Supernumerary tooth, Tongue ... OMIM:258850
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Pfeiffer Syndrome Type 2
Choanal atresia, Depressed nasal bridge, Proptosis, Respiratory distress, Intestinal malrotation,... ORPHA:93259
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Diastema, Microdontia, Deep philtrum, Talon cusp, Hypertelorism, Cleft palate OMIM:605282
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Brachydactyly, Metacarpal synostosis ORPHA:35099
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Proboscis Lateralis
Proptosis, Chorioretinal coloboma, Optic disc coloboma, Ventricular septal defect, Hypertelorism,... ORPHA:141099
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Decreased response to growth hormone stimulation test, Concave nasal ridge OMIM:245590
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Long philtrum, Thin upper lip vermilion OMIM:614741
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland, Hydrocephalus, Hypertelorism, Nasofrontal encephalocele, Optic disc pallor OMIM:614195
Baller-Gerold Syndrome
Proptosis, Anteriorly placed anus, Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Nar... ORPHA:1225
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Hypoglossia With Situs Inversus
Microglossia, Respiratory distress, Micrognathia, Narrow mouth, Hypodontia, High palate OMIM:612776
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypotelorism OMIM:619091
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard ... OMIM:617412
Temple-Baraitser Syndrome
Wide nasal bridge, Depressed nasal bridge, Everted upper lip vermilion, Delayed eruption of teeth... ORPHA:420561
Glutathionuria
Hypotelorism OMIM:231950
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Neonatal death, Me... OMIM:269860
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections OMIM:619773
Craniosynostosis 6
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal... OMIM:616602
Cutis Laxa, Autosomal Recessive, Type Iiia
Narrow mouth, Cryptorchidism, Hypotelorism, Narrow nasal ridge, Hypertelorism OMIM:219150
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Hypotelorism OMIM:604757
Ring Chromosome 7 Syndrome
Wide nasal bridge, Bifid uvula, Mandibular prognathia, Narrow naris, Hypogonadism, Anteverted nar... ORPHA:1449
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Re... ORPHA:2759
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Optic atrophy, Depressed nasal bridge, Respiratory distress, Micrognathia, S... OMIM:608799
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Bulbous nose, Micrognathia, Cryptorchidism, Hypotelorism, Thin upper lip ve... OMIM:613884
Pentasomy X
Small hand, Plagiocephaly, Camptodactyly of finger, Radioulnar synostosis, Abnormal cardiac septu... ORPHA:11
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Bulbous nose, Micr... OMIM:614114
Chand Syndrome
Depressed nasal bridge, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Hypertelo... ORPHA:1401
Short Stature-Micrognathia Syndrome
Retrognathia, Micrognathia, Cryptorchidism, Hypotelorism, High palate, Cleft palate OMIM:617164
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele, Cleft palate ORPHA:66637
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Unilateral cleft lip, Bulbous nose, Micrognathia, Malar flattening, Oligodon... ORPHA:1787
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ... OMIM:614744
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Cryptorch... OMIM:615524
Koolen-De Vries Syndrome
Narrow palate, Cleft upper lip, Widely spaced teeth, Bulbous nose, Prominent nasal bridge, Pear-s... OMIM:610443
Cohen Syndrome
High, narrow palate, Optic atrophy, Hypoplasia of the maxilla, Macrodontia of permanent maxillary... OMIM:216550
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Hypotelorism ORPHA:477673
Moebius Syndrome
Depressed nasal bridge, Bifid uvula, Abnormality of the dentition, Respiratory distress, Decrease... OMIM:157900
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Respiratory distress, Anteverted nares, Apnea, Micrognathia, Tented upper... ORPHA:314655
Galloway-Mowat Syndrome
Abnormality of the dentition, Micrognathia, Hypotelorism, Hiatus hernia, Hypertelorism, Aqueducta... ORPHA:2065
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Long philtrum, Bulbous nose, Micrognathia, Narrow mouth, Cryptorchidism, Hypotelor... OMIM:619512
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Narrow nasal tip, Prominent nasal bridge, Cryptorchidism, Deeply set eye, Ante... ORPHA:464306
Saethre-Chotzen Syndrome
Depressed nasal bridge, Optic atrophy, Hypoplasia of the maxilla, Open bite, Prominent nasal brid... ORPHA:794
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Gómez-López-Hernández Syndrome
Brachycephaly, Hydrocephalus, Turricephaly ORPHA:1532
Retinal Dystrophy With Leukodystrophy
Cleft palate, Hypotelorism OMIM:618863
Trichorhinophalangeal Syndrome Type 2
Wide nasal bridge, Abnormality of the dentition, Long philtrum, Thick nasal alae, Bulbous nose, A... ORPHA:502
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Delayed puberty, Nephrogenic diabe... ORPHA:3145
Beare-Stevenson Cutis Gyrata Syndrome
Choanal atresia, Optic atrophy, Depressed nasal bridge, Proptosis, Natal tooth, Bifid uvula, Narr... OMIM:123790
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased circulating prolactin concentration, Micrognathia, Hypotelorism, Hyperthyroidism, Optic... ORPHA:502423
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Micrognathia, Cryptorchidism, Hypotelorism, Hypertelorism, Cleft palate OMIM:619123
Trichorhinophalangeal Syndrome, Type Iii
Dental crowding, Long philtrum, Underdeveloped nasal alae, Bulbous nose, Pear-shaped nose, Thin u... OMIM:190351
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
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Stormorken Syndrome
Epistaxis, Prominent nose, Hypotelorism, Deeply set eye, Short philtrum OMIM:185070
Jacobsen Syndrome
Optic atrophy, Depressed nasal bridge, Annular pancreas, Anteverted nares, Micrognathia, Cryptorc... OMIM:147791
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Downturn... ORPHA:398079
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Semilobar holoprosencephaly, Dental crowding, Downturned corners of mouth, Retro... OMIM:301044
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Micrognathia ORPHA:1423
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly ORPHA:178377
Vici Syndrome
Depressed nasal bridge, Everted upper lip vermilion, Long philtrum, Cleft upper lip, Micrognathia... OMIM:242840
Orofaciodigital Syndrome I
Carious teeth, Ankyloglossia, Ovarian cyst, Hypertelorism, High palate, Myelomeningocele, Hamarto... OMIM:311200
Restrictive Dermopathy 2
Hypoplastic facial bones, Microretrognathia, Proptosis, Respiratory distress, Convex nasal ridge,... OMIM:619793
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Macroglossia, High palate ORPHA:254864
Solitary Bone Cyst
Abnormal tibia morphology, Lytic defects of the radius, Abnormality of the medullary cavity of th... ORPHA:83468
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m... ORPHA:364028
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Everte... OMIM:616898
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Cleidocranial Dysplasia
High, narrow palate, Depressed nasal bridge, Abnormality of the dentition, Carious teeth, Delayed... ORPHA:1452
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Hypotelorism OMIM:619053
Lig4 Syndrome
Wide nasal bridge, Prominent nose, Type II diabetes mellitus, Cryptorchidism, Hypotelorism, Chron... OMIM:606593
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Wide anterior fontanel, Delayed eruption of prima... OMIM:620099
Meckel Syndrome 14
Holoprosencephaly, Occipital encephalocele, Hypertelorism, Single ventricle OMIM:619879
Otodental Syndrome
Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo... ORPHA:2791
Hermansky-Pudlak Syndrome 10
Smooth philtrum, Apnea, Retrognathia, Hypotelorism OMIM:617050
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Short Stature, Microcephaly, And Endocrine Dysfunction
Tooth malposition, Broad nasal tip, Prominent nasal bridge, Cryptorchidism, Hypotelorism, Deeply ... OMIM:616541
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Smith-Lemli-Opitz Syndrome
Micrognathia, Cryptorchidism, Hypertelorism, Holoprosencephaly, Choanal atresia, Cleft palate, Py... ORPHA:818
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Open mouth, Tented upper lip vermilion, Hypertelorism, Macroorchidism, Mandibula... OMIM:300143
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... ORPHA:2255
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Optic atrophy, Abnormality of canine, Hypoplasia of the maxilla, Abnormality o... ORPHA:363417
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Hypotelorism ORPHA:2163
Maternal Phenylketonuria
Wide nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Hypotelorism, Deviated nasal se... ORPHA:2209
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Bilateral cryptorchidism, Respiratory distress, Death in infancy, Neonatal death, U... OMIM:300219
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Bardet-Biedl Syndrome 16
Respiratory distress, Hypogonadism OMIM:615993
Steinfeld Syndrome
Bifid uvula, Aplasia of the nose, Absent gallbladder, Median cleft palate, Median cleft upper lip... OMIM:184705
Nance-Horan Syndrome
Abnormality of the dentition, Prominent nose, Prominent nasal bridge, Supernumerary tooth, Mandib... ORPHA:627
Lymphedema, Primary, With Myelodysplasia
Hypotelorism OMIM:614038
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Cryptorchidism, Hypotelorism, Death in childhood, Convex nasal ridge, Hig... OMIM:300661
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... ORPHA:453499
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Cryptorchidism, Absence of Stensen duct, Hypertelorism, Abnormal nasop... OMIM:129900
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome
Depressed nasal ridge, Tented upper lip vermilion, Malar flattening, Deep philtrum, Convex nasal ... ORPHA:2104
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, Microretrognathia, Respiratory distress, Hypertelorism, Wide nose ORPHA:89844
Pfeiffer Syndrome Type 3
Choanal atresia, Depressed nasal bridge, Proptosis, Respiratory distress, Intestinal malrotation,... ORPHA:93260
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Carious teeth, Widely spaced teeth, Respiratory distre... OMIM:617102
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Tetrasomy 5P
Wide nasal bridge, Long philtrum, Respiratory distress, Anteverted nares, Micrognathia, Hydroceph... ORPHA:3309
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Dilated cardiomyopathy, Camptodactyly of finger, Brachycephaly, Hydrocephalus, Dol... ORPHA:272
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Micrognathia, Death in childhood, Thick vermilion bor... OMIM:618651
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Depressed nasal bridge, Broad nasal tip, Long philtrum, Thick lower lip vermilion,... OMIM:309590
Ramos-Arroyo Syndrome
Depressed nasal bridge, Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory dist... ORPHA:1051
White-Kernohan Syndrome
Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Anteriorly placed anus, Antevert... OMIM:619426
Marshall Syndrome
Depressed nasal bridge, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long phi... OMIM:154780
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Choanal atresia, Cleft lip, Annular pancreas, Duodenal atresia, Bulbous nose, Ante... OMIM:616975
Mosaic Trisomy 9
Intestinal malrotation, Bulbous nose, Micrognathia, Cryptorchidism, Hypotelorism, Spina bifida, H... ORPHA:99776
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Brachycephaly, Situs inversus totalis OMIM:615985
Braddock Syndrome
Micrognathia, Hypotelorism ORPHA:52047
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Wide nasal bridge, Microretrognathia, Proptosis, Retrognathia, Duodenal atresia, Prominent nasal ... ORPHA:468631
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, High palate, Paradoxical respiration OMIM:620011
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Prominent nose, Prominent nasal bridge, Mulberry molar... OMIM:302350
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Ventricular septal defect, Brachycephaly, Hydrocephalus, Abnormal shape of th... OMIM:218350
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Respiratory distress, Cryptorchidism, High palate, Degene... ORPHA:1145
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Thin upper lip vermilion, Hyperte... OMIM:615716
Iniencephaly
Spinal dysraphism, Arthrogryposis multiplex congenita, Myelomeningocele, Encephalocele, Congenita... ORPHA:63259
Potocki-Shaffer Syndrome
Parietal foramina, Turricephaly, Brachycephaly, 2-5 finger cutaneous syndactyly, Brachydactyly OMIM:601224
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Depressed nasal bridge, Mandibular prognathia, Long philtrum, Anteverted nares, Tented upper lip ... OMIM:620001
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Respiratory distress, Anteverted nare... OMIM:612863
Trichorhinophalangeal Syndrome Type 1
Abnormality of the dentition, Long philtrum, Bulbous nose, Micrognathia, Long upper lip, High pal... ORPHA:77258
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Umbilical hernia, Turricephaly, Bowing of the long bones, Radioulnar synostosis, ... ORPHA:171839
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypothalamic hamartoma, Esoph... OMIM:206900
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy ORPHA:26792
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Protein-losing enteropathy, Delayed eruption of teeth,... OMIM:235510
Succinic Acidemia
Respiratory distress OMIM:600335
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Plagiocephaly, Prominent fingertip pads, Genu valgum, Arachn... OMIM:619721
Mosaic Variegated Aneuploidy Syndrome
Depressed nasal ridge, Colon cancer, Apnea, Micrognathia, Stomach cancer, Intestinal polyposis, H... ORPHA:1052
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
10Q22.3Q23.3 Microdeletion Syndrome
Depressed nasal bridge, Microretrognathia, Breast aplasia, Anteverted nares, Intestinal polyposis... ORPHA:276413
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Brachycephaly, Finger syndactyly ORPHA:1514
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Respiratory distress, Chronic sinusitis, Chronic rh... ORPHA:922
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Micrognathia, Hypertelorism ORPHA:1143
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Everted upper lip vermilion, Retrognathia, Respiratory distress, Antevert... OMIM:608013
Lessel-Kreienkamp Syndrome
Plagiocephaly, Scaphocephaly, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, ... OMIM:619149
Autosomal Recessive Robinow Syndrome
Open bite, Ankyloglossia, Micrognathia, Cryptorchidism, Hypertelorism, Short nose, Downturned cor... ORPHA:1507
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Bicoronal synostosis, Brachycephaly, Spina bifida occulta, Flat occiput OMIM:618736
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Central hypothyroidism, Downturned corners of mouth, X... ORPHA:398069
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange... ORPHA:94066
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Plagiocephaly, Syndactyly, Tapered finger OMIM:618725
Duplication Of The Pituitary Gland
Retrognathia, Volvulus, Encephalocele, Abnormal hypothalamus morphology, Hypertelorism, Supernume... ORPHA:314621
Pallister-Hall Syndrome
Natal tooth, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, Hypertelorism, Anal ... ORPHA:672
Combined Oxidative Phosphorylation Deficiency 55
Depressed nasal bridge, Anteverted nares, Open mouth, Hypotelorism, High palate OMIM:619743
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Respiratory distress, Anteverted nares, Micrognathia, Malar flattening, Deep phi... OMIM:610536
Microtia-Anotia
Holoprosencephaly OMIM:600674
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Oral leukoplakia, Hypotelorism, Pancolitis, Esophageal stric... OMIM:620133
Thrombocytopenia 6
Deeply set eye, Hypotelorism, Spontaneous, recurrent epistaxis OMIM:616937
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Prominent occiput, Ventricula... OMIM:220210
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Plagiocephaly, Clinodactyly, Short middle phalanx of toe, ... OMIM:602849
Summitt Syndrome
Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Bra... ORPHA:3210
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Wide nasal bridge, Conical tooth, Underdeveloped nasal alae, Widely spaced teeth, Prominent nose,... ORPHA:90024
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Meckel Syndrome, Type 1
Occipital encephalocele, Natal tooth, Cleft upper lip, Enlarged naris, Intestinal malrotation, Mi... OMIM:249000
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Goiter, R... ORPHA:226313
X-Linked Centronuclear Myopathy
Respiratory distress, High palate ORPHA:596
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Charge Syndrome
Abnormal cranial nerve morphology, Cryptorchidism, Narrow mouth, Hypertelorism, Aqueductal stenos... ORPHA:138
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Downturned corners of mouth, Anteriorly placed anus, Respiratory distress... OMIM:217980
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Secundum atrial septal defect, Rhizomelic arm shortening, Polyhydramnios... ORPHA:96190
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Depressed nasal bridge, Mandibular prognathia, Downturned corners of mouth, Underdeveloped nasal ... OMIM:619720
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Depressed nasal bridge, Respiratory distress, Death in infancy, Irregular respiration, High palate OMIM:604377
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia ORPHA:1264
8Q12 Microduplication Syndrome
Brachycephaly, Short foot, Atrial septal defect, Ventricular septal defect ORPHA:228399
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Oligohydramnios, Turricephaly, Brachycephaly, Brachydactyly, Split... ORPHA:2145
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Depressed nasal bridge, Wide nasal bridge, Long philtrum, Widely spaced te... OMIM:619479
Craniopharyngioma
Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Cent... ORPHA:54595
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Optic disc coloboma, Underd... OMIM:234100
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia, Convex nasal ridge OMIM:614564
Cleidocranial Dysplasia 1
Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Narrow palate, Absent paranasal s... OMIM:119600
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Clinodactyly, Unilambdoid synostosis, Brachycephaly, Hydrocephalus OMIM:618577
Orofaciodigital Syndrome Xiv
Cleft lip, Occipital encephalocele, Natal tooth, Optic disc coloboma, Microretrognathia, Hamartom... OMIM:615948
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Micrognathia, Deeply set eye, Hypertelorism, High palate, Bulbous nose, Thin upper lip vermilion,... OMIM:612474
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Plagiocephaly, Short thumb, Prominent fingertip pads, Patent forame... OMIM:618821
Aminopterin Syndrome Sine Aminopterin
Short thumb, Clinodactyly, Umbilical hernia, Arachnodactyly, Brachycephaly, Brachydactyly, Rudime... OMIM:600325
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Depressed nasal bridge, Proptosis, Long philtrum OMIM:617895
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Broad thumb, Atrioventricular canal defect, Brachycephaly, Frontal ... OMIM:617364
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Depressed nasal bridge, Optic atrophy, Proptosis, Tented upper lip vermilion, Alveolar ridge over... OMIM:618346
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy, Cryptorchidism, Death in childhood OMIM:615597
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Maturity-onset diabetes o... ORPHA:96149
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Mandibular prognathia, Broad nasal tip, Downturned corners of mouth, Cleft upp... OMIM:239300
Keipert Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi... ORPHA:2662
Arachnoid Cyst
Lower limb muscle weakness, Encephalocele, Facial palsy, Hydrocephalus, Holoprosencephaly ORPHA:2356
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Long philtrum, Streak ovary, Micrognathia, Cryptorchidism, Aplasia of the nasal bo... OMIM:618820
Non-Distal Duplication 10Q
Brachycephaly, Frontal bossing ORPHA:1695
Isolated Arrhinia
Underdeveloped nasal alae, Respiratory distress, Midline defect of the nose, Aplasia/Hypoplasia o... ORPHA:1134
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Respiratory distress, Death ... OMIM:184260
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Thymoma, Type I diabetes mellitus, Graves disease, Xerostomia, Anterior pitui... ORPHA:227982
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Ventricular septal defect, Postaxial ... OMIM:618142
Myopathy And Diabetes Mellitus
Respiratory distress, Type I diabetes mellitus ORPHA:2596
Oromandibular Dystonia
Abnormality of the nose, Abnormal lip morphology, Abnormality of the temporomandibular joint, Res... ORPHA:93958
Smith-Lemli-Opitz Syndrome
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Dental crowding... OMIM:270400
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... ORPHA:2633
Meningioma
Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu... ORPHA:2495
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Coffin-Siris Syndrome 12
Depressed nasal bridge, Velopharyngeal insufficiency, Underdeveloped nasal alae, Bulbous nose, An... OMIM:619325
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Meckel Syndrome
Depressed nasal ridge, Optic atrophy, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Microgna... ORPHA:564
Cog2-Cdg
Small pituitary gland ORPHA:435934
Cornelia De Lange Syndrome 2
Small hand, Clinodactyly, Hypertrophic cardiomyopathy, Brachycephaly, Brachydactyly, Short foot, ... OMIM:300590
Microtia
Holoprosencephaly ORPHA:83463
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Proptosis, Retrognathia, Dental crowding, Respiratory distress, Micrognathia, ... OMIM:620369
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Optic disc coloboma ORPHA:2260
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly ORPHA:2528
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Downturned corners of mouth, Decreased respon... OMIM:619476
Malaria
Respiratory distress ORPHA:673
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Osteoglophonic Dysplasia
Choanal atresia, Depressed nasal bridge, Hypoplasia of the maxilla, Proptosis, Eruption failure, ... OMIM:166250
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Hypotelorism, Wide mouth, Duodenal atresia OMIM:617798
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandible, Prominent... OMIM:268305
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral valve prolapse, Patent foramen ovale, Arachnodactyly, Talipes equinovarus, Brachycephaly, ... OMIM:615539
Galloway-Mowat Syndrome 9
Hiatus hernia, Hypotelorism, Hypertelorism OMIM:619603
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Toe syndactyly, Genu valgum, Ventricular septal defect, Complete dup... OMIM:201000
Bor Syndrome
Branchial cyst ORPHA:107
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Anal stenosis, Breast hypoplasia... OMIM:181450
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Supernumerary tooth, Persistence of primary teeth, ... OMIM:619752
Biliary, Renal, Neurologic, And Skeletal Syndrome
Depressed nasal bridge, Anteverted nares, Deeply set eye, Neonatal death, Hydrocephalus, Anterior... OMIM:619534
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Polyhydramnios, Plagiocephaly ORPHA:521390
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Long philtrum, Bulbous nose, Anteverted nares, Tented upper lip vermilion... OMIM:614105
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Patent foramen oval... ORPHA:500159
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Deeply set eye, Hypertelorism, Downturne... OMIM:264090
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Diastema, Agenesis of molar, Cryptorchidism, Microdontia, Hypogonadotropic hypogonadism,... OMIM:619718
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Clinodactyly, Patent foramen ovale, Talipes equinovarus, Brachycephaly, Transposit... OMIM:616789
Autosomal Dominant Robinow Syndrome
Open bite, Micrognathia, Cryptorchidism, Anodontia, Hypertelorism, Short nose, Wide nose, High, n... ORPHA:3107
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Smith-Magenis Syndrome
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Cleft upper... ORPHA:819
German Syndrome
Lymphedema, Tetralogy of Fallot, Camptodactyly of finger, Brachycephaly, Abnormal cardiac septum ... ORPHA:2077
Cranioectodermal Dysplasia 1
Wide nasal bridge, High, narrow palate, Widely spaced teeth, Anteverted nares, Hypotelorism, Anod... 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
Intellectual Developmental Disorder, Autosomal Dominant 66
Toe clinodactyly, Plagiocephaly, Secundum atrial septal defect, Arachnodactyly, Brachycephaly, Tr... OMIM:619910
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Thymoma, Type I diabetes mellitus, Xerostomia, Anterior pituitary dysgenesis,... ORPHA:227990
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Nonimmune hydrops fetalis, Brach... OMIM:618265
Trichothiodystrophy
High, narrow palate, Carious teeth, Retrognathia, Cryptorchidism, Hypotelorism, Enamel hypoplasia... ORPHA:33364
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Depressed nasal bridge, Hypoplasia of the maxilla, Absent nipple... OMIM:305100
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, Open mouth, Encephalocele, Cryptorchidism, Deeply set eye, Irregular dentition, Hyp... OMIM:619148
Isolated Sedoheptulokinase Deficiency
Abnormality of globe location, Shallow orbits, Hypotelorism, Steatorrhea ORPHA:440713
Craniofaciofrontodigital Syndrome
Depressed nasal bridge, Proptosis, Long philtrum, Respiratory distress, Gingival overgrowth, Thic... ORPHA:363705
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Decreased n... ORPHA:69087
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Brachycephaly, Double outlet right ventricle, Atr... OMIM:179613
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Respiratory distress, Micrognathia, Hypertelorism,... OMIM:608022
Tooth Agenesis, Selective, 3
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia OMIM:604625
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Swollen lip ORPHA:100057
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dyspnea, Facial palsy, Tongu... OMIM:211530
Coffin-Siris Syndrome 1
Cryptorchidism, Hypertelorism, High palate, Duodenal ulcer, Gastric ulcer, Choanal atresia, Broad... OMIM:135900
Microlissencephaly-Micromelia Syndrome
Abnormal circulating calcium-phosphate regulating hormone concentration, Long philtrum, Respirato... ORPHA:50810
Folinic Acid-Responsive Seizures
Respiratory distress, Optic atrophy, Apnea ORPHA:79097
Radio-Renal Syndrome
High, narrow palate, Depressed nasal bridge, Downturned corners of mouth, Retrognathia, Respirato... ORPHA:3015
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Turricephaly, Brachycephaly, Abnormal metacarpal morphology, Hydrocephalus, Brachydactyly, Fronta... ORPHA:93262
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Recurrent upper respiratory tract infections OMIM:263000
Craniofrontonasal Dysplasia
Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Frontal bossing, Hand poly... ORPHA:1520
Thyroid Lymphoma
Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dyspnea ORPHA:97285
Developmental And Epileptic Encephalopathy 80
Wide nasal bridge, Proptosis, Long philtrum, Micrognathia, Tented upper lip vermilion, Protruding... OMIM:618580
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
Depressed nasal ridge, Tooth agenesis, Bilateral cleft palate, Meningocele, Absent nasal septal c... ORPHA:2003
Band Heterotopia
Plagiocephaly, Hydrocephalus OMIM:600348
Kniest Dysplasia
Depressed nasal bridge, Proptosis, Respiratory distress, Malar flattening, Cleft palate OMIM:156550
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Mandibular prognathia, Annular pancreas, Delayed eruption of teeth, Anter... OMIM:268400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Breas... ORPHA:2232
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, High palate, Degeneration of anterior horn cells OMIM:271225
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Hypodontia, Narrow nasal bridge, Short nose ORPHA:544503
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Laryngomalacia
Respiratory distress OMIM:150280
Congenital Syphilis
Optic atrophy, Hyperplasia of the maxilla, Mulberry molar, Hydrocephalus, High palate, Concave na... ORPHA:499009
Anaplastic Thyroid Carcinoma
Dyspnea, Goiter, Respiratory distress, Tracheoesophageal fistula, Nodular goiter, Anaplastic thyr... ORPHA:142
Cebalid Syndrome
Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly OMIM:618774
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Carpal synostosis, Brachycephaly, Hydrocephalus, Tarsal ... ORPHA:53271
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes ORPHA:45452
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Calvarial skull defect, Oligohydramnios, Encephalocele, Brachycephaly, ... ORPHA:228390
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Micrognathia, Cryptorchidism, Narrow mouth, Deeply set eye, High palate, Thyro... OMIM:619503
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Pleural Mesothelioma
Respiratory distress, Dyspnea ORPHA:50251
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Cardioacrofacial Dysplasia 2
Conical tooth, Tented upper lip vermilion, Hypodontia, Prominent nasal tip, Deep philtrum, Hypert... OMIM:619143
Joubert Syndrome 14
Optic atrophy, Prominent nasal bridge, Open mouth, Encephalocele, Malar flattening, Deeply set ey... OMIM:614424
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Bifid uvula, Micrognathia, Cleft palate OMIM:606164
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Trigonocephaly, Overlapping toe, Postaxial polydactyly, Tapered fi... OMIM:613792
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Doors Syndrome
Wide nasal base, Short lingual frenulum, Adrenal hyperplasia, Open mouth, Hypertelorism, High pal... ORPHA:79500
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Prominent nose, Microg... OMIM:610706
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Decreased fibular diameter, Ascites, Hypertrophic cardiomyopathy, Pleural effu... OMIM:616897
Degcags Syndrome
Micrognathia, Cryptorchidism, Protruding tongue, Hypertelorism, High palate, Short nose, Pyloric ... OMIM:619488
Even-Plus Syndrome
Dysplasia of the femoral head, Oligohydramnios, Patent foramen ovale, Brachycephaly, Atrial septa... OMIM:616854
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Clinodactyly, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, V... ORPHA:369891
Cooper-Jabs Syndrome
Umbilical hernia, Camptodactyly of finger, Frontal bossing, Ventricular septal defect, Brachyceph... ORPHA:1488
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Isolated Cleft Lip
Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral... ORPHA:199302
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Intellectual Developmental Disorder, Autosomal Dominant 26
Clinodactyly of the 5th finger, Brachycephaly, Umbilical hernia OMIM:615834
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Brachycephaly... ORPHA:1327
Raine Syndrome
Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Hypertelorism, High p... OMIM:259775
Omodysplasia 2
Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Long philtrum, Micrognathia, Tented u... OMIM:164745
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Pachyonychia Congenita
Natal tooth, Oral leukoplakia, Respiratory distress, Angular cheilitis, Advanced eruption of teeth ORPHA:2309
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis, Cranial asymmetry ORPHA:137634
Monosomy 13Q14
Wide nasal bridge, Micrognathia, Prominent nasal bridge, Hypertelorism, Holoprosencephaly ORPHA:1587
Mogs-Cdg
Optic atrophy, Retrognathia, Respiratory distress, Apnea, Hypoventilation, Hypothyroidism, Absent... ORPHA:79330
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Brachycephaly, Short foot, Short palm OMIM:602342
Contractural Arachnodactyly, Congenital
Ulnar deviation of finger, Scaphocephaly, Mitral valve prolapse, Ventricular septal defect, Arach... OMIM:121050
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Peters-Plus Syndrome
Hypoplasia of the maxilla, Cleft upper lip, Widely spaced teeth, Long philtrum, Anteriorly placed... OMIM:261540
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Thalamic edema, Hypotelorism, Optic nerve h... ORPHA:2177
Pierpont Syndrome
Brachycephaly, Short toe, Prominent fingertip pads, Short finger ORPHA:487825
Clark-Baraitser Syndrome
Sandal gap, Brachycephaly, Dolichocephaly, Clinodactyly OMIM:617752
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Talipes equinovarus, Brachycephaly OMIM:619972
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea ORPHA:70589
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina ORPHA:52022
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress OMIM:613561
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Brachycephaly, Transposition of the great arterie... ORPHA:1913
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Umbilical hernia, Frontal bossing, Abnormal mitral valve morphology, Brachycephaly, Brachydactyly... ORPHA:1292
Microcephalic Primordial Dwarfism, Dauber Type
Prominent nose, Bilateral breast hypoplasia, Hypotelorism ORPHA:319675
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Small hand, Trigonocephaly, Scaphocephaly, Brachycephaly, Sagittal cranios... ORPHA:459061
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Optic atrophy, Tachypnea, Death in infancy OMIM:614299
Pseudodiastrophic Dysplasia
Rhizomelia, Talipes equinovarus, Brachycephaly, Phalangeal dislocation, Camptodactyly, Frontal bo... OMIM:264180
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Diabetes mellitus ORPHA:140896
Treacher Collins Syndrome 1
Choanal atresia, Hypoplasia of the pharynx, Cleft soft palate, Narrow mouth, Cryptorchidism, Micr... OMIM:154500
Rubinstein-Taybi Syndrome 1
Micrognathia, Narrow mouth, Cryptorchidism, Deeply set eye, Hypertelorism, High palate, High, nar... OMIM:180849
Achondrogenesis, Type Ii
Short tubular bones of the hand, Brachycephaly, Stillbirth, Polyhydramnios, Hydrops fetalis, Fron... OMIM:200610
Tularemia
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Oral ulcer ORPHA:3392
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress ORPHA:254875
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Coffin-Siris Syndrome 6
Plagiocephaly, Clinodactyly, Atrial septal defect, Brachydactyly, Frontal bossing OMIM:617808
Prune1-Related Neurological Syndrome
Bilateral talipes equinovarus, Plagiocephaly, Hypertrophic cardiomyopathy ORPHA:544469
Stt3B-Cdg
Respiratory distress, Optic atrophy, Cryptorchidism ORPHA:370924
Bloom Syndrome
Recurrent upper respiratory tract infections, Prominent nose, Type II diabetes mellitus, Malar fl... OMIM:210900
Hennekam Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal oral mucosa morphology, Delayed eruption of t... ORPHA:2136
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Dental malocclusion, Pursed lips, Long philtrum, Decreased testicular size,... ORPHA:800
Waardenburg Syndrome Type 1
Wide nasal bridge, Mandibular prognathia, Underdeveloped nasal alae, Cleft upper lip, Tented uppe... ORPHA:894
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Underdeveloped nasal alae, Cleft mandible, Long p... OMIM:608670
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Optic disc coloboma, Ventricular septal defect, Low posterior hai... ORPHA:261337
Scalp-Ear-Nipple Syndrome
Depressed nasal bridge, Bifid uvula, Breast aplasia, Agenesis of permanent teeth, Anteverted nare... OMIM:181270
Pfeiffer Syndrome Type 1
Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t... ORPHA:93258
Hallermann-Streiff Syndrome
High, narrow palate, Choanal atresia, Abnormality of the dentition, Natal tooth, Underdeveloped n... ORPHA:2108
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis ORPHA:99825
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Brachycephaly, Hypertrophic cardiomyopathy ORPHA:70472
Charge Syndrome
Micrognathia, Cryptorchidism, Hypertelorism, Hypoparathyroidism, Anal atresia, Holoprosencephaly,... OMIM:214800
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Brachycep... OMIM:612582
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Femoral bowing, Humeroradial synostosis, U... OMIM:207410
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Brachyce... ORPHA:3306
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea, Recurrent upper respiratory tract infections ORPHA:60032
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Polyhydramnios, Brachycephaly, Increased nuchal translucency, Plagiocephaly OMIM:618862
Frontofacionasal Dysplasia
Cranium bifidum occultum, Hypoplasia of the frontal bone, Bifid uvula, Underdeveloped nasal alae,... OMIM:229400
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarse metaphyseal trabecularization, Frontal bossing, Facial hyperostosis... ORPHA:2780
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Depressed nasal bridge, Long philtrum, Anteverted nares, Abnormality of the anterior pituitary, E... ORPHA:75389
Crouzon Syndrome
Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Hydrocephalus, Frontal bossing ORPHA:207
Houge-Janssens Syndrome 3
Plagiocephaly, Umbilical hernia, Muscular ventricular septal defect, Atrial septal defect, Fronta... OMIM:618354
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect... ORPHA:261330
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Depressed nasal bridge, Anteverted nares, Malar flattening, Thick vermilion border, Thin vermilio... ORPHA:86818
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly OMIM:618859
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Chime Syndrome
Depressed nasal ridge, Abnormality of the dentition, Abnormal dental morphology, Thick vermilion ... ORPHA:3474
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ductus ... OMIM:617751
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Brachycephaly, Tapered finger ORPHA:352530
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Dentinogenesis imperfecta, Carious teeth, Proptosis, Long philtrum, Respi... ORPHA:536467
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Short foot, Plagiocephaly, Short palm OMIM:614563
Laurence-Moon Syndrome
Brachycephaly, Hand polydactyly, Brachydactyly, Finger syndactyly ORPHA:2377
Fanconi Anemia, Complementation Group D2
Annular pancreas, Cryptorchidism, Hypotelorism, Tracheoesophageal fistula, Esophageal atresia, Hy... OMIM:227646
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Increased nuchal translucency, Plagiocephaly ORPHA:77300
Tetanus
Respiratory distress, Autonomic bladder dysfunction, Tachypnea, Trismus, Abnormal autonomic nervo... ORPHA:3299
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Smooth philtrum, Everted lower ... ORPHA:261144
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Oligohydramnios, Brachycephaly, Ulnar deviation of the hand, Metaphyse... OMIM:263210
Myotonic Dystrophy 1
Cholelithiasis, Respiratory distress, Hypogonadism, Facial diplegia, Testicular atrophy OMIM:160900
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Cranial asymme... OMIM:614886
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Nasal polyposis, Sinusitis OMIM:606763
Rodrigues Blindness
Tooth malposition, Narrow nasal bridge, Nasal flaring OMIM:268320
Lujan-Fryns Syndrome
Camptodactyly of finger, Arachnodactyly, Brachycephaly, Atrial septal defect, Brachydactyly ORPHA:776
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Triangular mouth, Exertional dyspnea, High palate, Facial ... ORPHA:98915
Kury-Isidor Syndrome
Finger syndactyly, Frontal bossing, Ventricular septal defect, Talipes equinovarus, Brachycephaly... OMIM:619762
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Respiratory distress, Cryptorchidism, Thin upper li... OMIM:607143
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Paresis of extensor muscles of the big toe, Abnormal spinal cord morphology ORPHA:99947
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Broad nasal tip... ORPHA:363611
Mucopolysaccharidosis-Plus Syndrome
Wide nasal bridge, Optic atrophy, Respiratory distress, Death in childhood, Thick vermilion borde... OMIM:617303
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Depressed nasal bridge, Respiratory distress, Neonatal death, Central apnea, Hydrocephalus OMIM:616482
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal dental pulp morphology, Long philtrum, Abnormality of the sphenoid sinus, Micrognathia, ... ORPHA:363700
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Decreased r... OMIM:610978
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Broad thumb, Arachnodactyly, Talipes equinovarus, Brachycephaly, Clinodactyly o... ORPHA:251019
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Broad thumb, Toe syndactyly, Flat occiput, Overlapping toe, Ventricular septal defect, Arachnodac... ORPHA:505237
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Respiratory distress, Death in childhood, Exertional dyspnea, High palate OMIM:220110
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly ORPHA:320385
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Sudden episodic apnea, Bilatera... ORPHA:466722
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intestinal malrotation, Hypotelorism, Deeply set eye, Tachypnea, High palate, Bile duct prolifera... OMIM:613658
Chromosome 17P13.1 Deletion Syndrome
Plagiocephaly, Broad hallux, Umbilical hernia, Long hallux, Oligohydramnios, Turricephaly, Arachn... OMIM:613776
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Metaphyseal cupping, Plagiocephaly, Short middle phalanx of finge... OMIM:618853
Familial Adenomatous Polyposis
Stomach cancer, Neoplasm of the adrenal gland, Colorectal polyposis, Abnormal cementum morphology... ORPHA:733
Isolated Atp Synthase Deficiency
Respiratory distress, Optic atrophy, Hypothyroidism, Hypogonadism ORPHA:254913
Congenital Disorder Of Glycosylation, Type Il
Ascites, Brachycephaly, Atrial septal defect, Pericardial effusion, Hydrops fetalis, Frontal bossing OMIM:608776
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly OMIM:615031
Kleefstra Syndrome 2
Plagiocephaly OMIM:617768
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy ORPHA:79312
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Brachycephaly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Keppen-Lubinsky Syndrome
Proptosis, Underdeveloped nasal alae, Narrow naris, Decreased testicular size, Narrow nasal bridg... ORPHA:435628
Cerebellar-Facial-Dental Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long ... ORPHA:444072
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Bifid uvula, Respiratory distress, Malar flattening, Cleft palate, Pierre-Ro... OMIM:183900
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Broad thumb, Flat occiput, Overlapping toe, Ventricular septal defect, Talipes equinovarus, Brach... OMIM:617452
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Brachycephaly, Clinodactyly of the 5th finger, Short foot, Proximal p... OMIM:300882
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing ORPHA:314575
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Brachycephaly OMIM:309541
Shprintzen Omphalocele Syndrome
Flared nostrils, Wide nasal bridge, Hypoplasia of the pharynx, Short columella, Thin vermilion bo... OMIM:182210
Vulto-Van Silfhout-De Vries Syndrome
2-3 toe cutaneous syndactyly, Brachycephaly, Frontal bossing, Prominent fingertip pads OMIM:615828
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Fryns Syndrome
Wide nasal bridge, Long philtrum, Duodenal atresia, Intestinal malrotation, Anteverted nares, Mic... ORPHA:2059
Grant Syndrome
Bowing of the long bones, Brachycephaly, Frontal bossing ORPHA:2097
Chromosome 2Q37 Deletion Syndrome
Short toe, Type E brachydactyly, Brachycephaly, Subvalvular aortic stenosis, Short fourth metatar... OMIM:600430
Mgat2-Cdg
Dental crowding, Respiratory distress, Open mouth, Hypoplastic nipples, Convex nasal ridge, Hyper... ORPHA:79329
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Adrenocorticotropin deficient adrenal insufficiency... ORPHA:293978
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Hypoplasia of the maxilla, Retrognathia, Respiratory distress, ... ORPHA:2554
Craniosynostosis And Dental Anomalies
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow palate, Proptosis, Dental malocclusion,... OMIM:614188
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly OMIM:618603
ERI1-related disease
Slender metacarpals, Oligodactyly, Abnormal heart morphology, Clinodactyly of the 5th finger, Tri... OMIM:608739
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Frontal bossing, Tapered finger OMIM:616801
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly OMIM:607313
Achard Syndrome
Arachnodactyly, Brachycephaly, Broad skull OMIM:100700
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, High palate OMIM:619272
6Q25 Microdeletion Syndrome
Clinodactyly of the 5th finger, Rocker bottom foot, Plagiocephaly, Camptodactyly of finger ORPHA:251056
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly, Sandal gap OMIM:615516
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Narrow mouth, Deeply se... ORPHA:314647
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Acrodysostosis
Cone-shaped metacarpal epiphyses, Short toe, Micromelia, Abnormal diaphysis morphology, Frontal b... ORPHA:950
Arboleda-Tham Syndrome
Bifid nasal tip, Optic atrophy, Broad nasal tip, Proptosis, Microretrognathia, Downturned corners... OMIM:616268
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Talipes equinovarus, Plagiocephaly OMIM:617481
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation ORPHA:2140
Achondroplasia
Depressed nasal bridge, Respiratory distress, Malar flattening, Death in infancy, Choanal stenosi... OMIM:100800
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Respiratory distress, Micrognathia, Malar flattening, Death in childho... OMIM:613848
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Frontal bossing, Anterior plagiocephaly, Abnormal femo... ORPHA:163649
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Abnormal spinal cord morphology ORPHA:494
Robinow-Sorauf Syndrome
Broad thumb, Plagiocephaly, Broad hallux, Duplication of the distal phalanx of the hallux, Hallux... OMIM:180750
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in childhood, Death in infancy, High palate, Mandibular prognathia OMIM:620278
Schinzel-Giedion Syndrome
Streak ovary, Micrognathia, Hypertelorism, High palate, Short nose, Neural tube defect, Broad nas... ORPHA:798
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Small hand, Plagiocephaly, Sandal gap, Clinodactyly, Short foot, Tapered finger OMIM:618089
Pseudohypoparathyroidism Type 1B
Depressed nasal bridge, Pituitary resistance to thyroid hormone, Elevated circulating parathyroid... ORPHA:94089
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... OMIM:610921
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Ventricular septal defect, Postaxial polydactyly, 2-3... ORPHA:435638
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Dysplastic pulmonary valve OMIM:300958
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress OMIM:620375
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Ventricul... OMIM:620073
Diamond-Blackfan Anemia 10
Choanal atresia, Respiratory distress, Micrognathia, Malar flattening, Cleft palate OMIM:613309
Familial Adenomatous Polyposis 1
Carious teeth, Adrenocortical adenoma, Eruption failure, Adenomatous colonic polyposis, Duodenal ... OMIM:175100
Campomelic Dysplasia
Depressed nasal ridge, Recurrent upper respiratory tract infections, Spinal dysraphism, Depressed... OMIM:114290
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Brachycephaly, Tapered finger ORPHA:261652
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Plagiocephaly, Clinodactyly, Prominent occiput, Polyhydramnios, Ventricular septal defect, Atrial... OMIM:617360
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Aganglionic megaco... OMIM:614749
Bresek Syndrome
Neonatal death, Plagiocephaly, Hydrocephalus, Postaxial hand polydactyly ORPHA:85284
Kyphoscoliotic Ehlers-Danlos Syndrome
Micrognathia, High palate, Abnormal nasal bridge morphology, Hypotelorism ORPHA:536545
Hyperparathyroidism, Transient Neonatal
Wide nasal bridge, Hyperparathyroidism, Depressed nasal bridge, Respiratory distress, Anteverted ... OMIM:618188
Omphalocele Syndrome, Shprintzen-Goldberg Type
Downturned corners of mouth, Hypoplasia of the pharynx, Short columella, Thin upper lip vermilion... ORPHA:3164
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly OMIM:619927
Treacher-Collins Syndrome
Iris coloboma, Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Pontocerebellar Hypoplasia, Type 3
Brachycephaly OMIM:608027
Houge-Janssens Syndrome 2
Plagiocephaly, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus OMIM:616362
Gardner Syndrome
Abnormality of the dentition, Esophageal carcinoma, Adrenocortical adenoma, Adenomatous colonic p... ORPHA:79665
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Plagiocephaly, Sandal gap, Brachycephaly, Clinodactyly of the 5th finger, Frontal bossing, Tapere... OMIM:618430
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Arterial Tortuosity Syndrome
Respiratory distress, Esophagitis, Median cleft palate, Malar flattening, Hiatus hernia, Hypertel... ORPHA:3342
Smith-Magenis Syndrome
Abnormal heart morphology, Brachycephaly, Brachydactyly, Short palm OMIM:182290
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly ORPHA:93950
Arthrogryposis, Distal, Type 4
Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes, Talipes eq... OMIM:609128
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea ORPHA:178320
Hoxha-Aliu Syndrome
Short fifth metatarsal, Short distal phalanx of finger, Short 4th toe, Short fourth metatarsal, F... OMIM:620662
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Nasal congestion, Episodic respiratory distress, Dev... ORPHA:141083
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad nasal tip, Retrognathia, Underdeveloped nasal alae, Widely spaced teeth, Decreased response... ORPHA:268261
Alagille Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Ventricular septal defect, Brachy... ORPHA:52
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Tachypnea, Increased circulating procalcitonin concentration, Dyspnea, Diab... ORPHA:36238
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Branchial cyst, Optic disc coloboma, Intrauterine growth retardation, Patent foramen... OMIM:620186
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Abnorm... ORPHA:2095
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Mitral valve prol... ORPHA:371428
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the ma... ORPHA:306542
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Mitral valve prolapse, Talipes equinovarus, Radioulnar synostos... OMIM:245600
Primary Dystonia, Dyt4 Type
Respiratory distress, Open mouth ORPHA:98805
Noonan Syndrome 13
Plagiocephaly, Clinodactyly, Lymphedema, Overlapping toe, Mitral valve prolapse, Atrial septal de... OMIM:619087
Williams-Beuren Region Duplication Syndrome
Brachycephaly, Hydrocephalus, Patent ductus arteriosus OMIM:609757
Congenital Pulmonary Lymphangiectasia
Respiratory distress ORPHA:2414
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress OMIM:250940
Tsh-Secreting Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... ORPHA:91347
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Brachycephaly OMIM:615419
Congenital Myasthenic Syndrome
Microretrognathia, Narrow jaw, Episodic respiratory distress, Apneic episodes precipitated by ill... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Narrow jaw, Episodic respiratory distress, Apneic episodes precipitated by ill... ORPHA:98914
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea ORPHA:264675
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea ORPHA:411703
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate, Hypotelorism OMIM:614557
Larsen-Like Syndrome
Radial deviation of the 4th finger, Talipes equinovarus, Brachycephaly, Bipartite calcaneus, Clin... OMIM:608545
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
Aica-Ribosiduria Due To Atic Deficiency
Brachycephaly, Secundum atrial septal defect, Frontal bossing OMIM:608688
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Depressed nasal bridge, Stillbirth OMIM:151210
Atelosteogenesis Type Ii
Genu valgum, Broad phalanx, Bilateral talipes equinovarus, Short metacarpal, Plagiocephaly, Tibia... ORPHA:56304
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Abnormal neuron branching, Esophageal varix ORPHA:367
Apert Syndrome
Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cutaneou... OMIM:101200
Inhalational Anthrax
Respiratory distress, Abnormal sweat gland morphology, Dyspnea ORPHA:247257
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Plagiocephaly, Talipes equinovarus, Clinodactyly of the 5th finge... OMIM:619293
Desanto-Shinawi Syndrome
Brachycephaly OMIM:616708
Avian Influenza
Respiratory distress, Tachypnea, Dyspnea, Miscarriage ORPHA:454836
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Type I diabetes mellitus OMIM:620166
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Depressed nasal bridge, Neonatal death OMIM:231680
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal heart morphology, Ventricula... ORPHA:404440
Williams-Beuren Syndrome
Depressed nasal bridge, Colonic diverticula, Broad nasal tip, Dental malocclusion, Long philtrum,... OMIM:194050
Frontonasal Dysplasia 2
Parietal foramina, Calvarial skull defect, Oligohydramnios, Encephalocele, Anterior plagiocephaly... OMIM:613451
Keppen-Lubinsky Syndrome
Proptosis, Underdeveloped nasal alae, Narrow naris, Narrow nasal bridge, Micrognathia, Open mouth... OMIM:614098
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Sandal gap, Finger syndactyly, Ventricular septal defect, Brachycephaly, Atrial... ORPHA:254346
Microphthalmia, Syndromic 2
Bifid nasal tip, Bifid uvula, Broad nasal tip, Dental malocclusion, Delayed eruption of teeth, Lo... OMIM:300166
8Q24.3 Microdeletion Syndrome
Branchial cyst, Retinal coloboma, Abnormal heart morphology, Atrioventricular canal defect, Intra... ORPHA:508488
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Brachycephaly, Skull asymmetry, Turricephaly OMIM:601853
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Hereditary Angioedema Type 1
Respiratory distress, Intestinal edema, Dyspnea, Abnormal soft palate morphology, Abnormal uvula ... ORPHA:100050
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ... OMIM:123500
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Brachycephaly, Brachydactyly, Ventricular septal defect OMIM:619995
Birk-Barel Syndrome
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Submucous cleft soft palate, High pal... OMIM:612292
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Brachycephaly, Atrial septal defect, Polyhydramnios, Craniosynostosis, Patent duc... ORPHA:1790
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Respiratory distress, Breast hypoplasia, Micrognathia, Narrow mouth, C... OMIM:224690
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Cryptor... ORPHA:289
Limb Body Wall Complex
Broad hallux, Abnormal heart morphology, Aplasia of the proximal phalanges of the hand, Cutaneous... ORPHA:2369
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Immunodeficiency 47
Death in infancy, Hypotelorism OMIM:300972
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Contra... ORPHA:457279
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, Adenoma sebaceum, Supernum... ORPHA:3353
Acquired Methemoglobinemia
Respiratory distress, Dyspnea ORPHA:464453
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Hydrocephalus, Polyhydramnios, Hammertoe, Coxa valga OMIM:619833
Developmental And Epileptic Encephalopathy 1
Plagiocephaly OMIM:308350
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal thalamus morphology, Abnormal pattern of resp... ORPHA:79139
Esophageal Atresia
Choanal atresia, Barrett esophagus, Cleft lip, Respiratory distress, Intestinal malrotation, Esop... ORPHA:1199
Townes-Brocks Syndrome 1
Chorioretinal coloboma, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Atrial ... OMIM:107480
Apc-Related Attenuated Familial Adenomatous Polyposis
Esophageal carcinoma, Adrenocortical adenoma, Adenomatous colonic polyposis, Duodenal adenocarcin... ORPHA:247806
2Q23.1 Microdeletion Syndrome
Clinodactyly of the 5th finger, Brachycephaly, Sandal gap, Short palm ORPHA:228402
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Brachycephaly, Long fingers, Tapered finger OMIM:218000
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Hydrocephalus, Coxa valga OMIM:109120
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Wide nasal bridge, Dental malocclusion, Long philtrum, Micrognathia, Hypoplastic sweat glands, Co... ORPHA:73223
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Microretrognathia, Lobulated tongue, Bilateral cryptorchidism, Hamartoma... ORPHA:434179
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly OMIM:618731
19P13.13 Microdeletion Syndrome
Sandal gap, Clinodactyly, Increased nuchal translucency, Syringomyelia, Brachycephaly, Long finge... ORPHA:357001
Trisomy 20P
Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Umbilical h... ORPHA:261318
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Bulbous ... ORPHA:466943
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Notched primary central incisor, Depressed nasal bridge, Cleft lip OMIM:620519
Wieacker-Wolff Syndrome, Female-Restricted
Radial deviation of the hand, Talipes equinovarus, Brachycephaly, Polyhydramnios, Rocker bottom foot OMIM:301041
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Wide nasal base, Flared nostrils, Tooth malposition, High palate, Anal atresia, Choanal atresia, ... ORPHA:480880
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Ventricular septal defect, Atrial septal defect, Brachydactyly, Craniosynostosis, ... ORPHA:457193
Odontoonychodermal Dysplasia
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... OMIM:257980
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Bulbous nose, Micrognathia, Trismus OMIM:616271
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Talipes equinovarus, Brachycephaly, Polyhydramnios, Clinodactyly of the 5th finger OMIM:619859
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Depressed nasal bridge, Respiratory distress, Aplasia of the epiglottis, Median cleft upper lip, ... OMIM:617088
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea ORPHA:1302
Stevenson-Carey Syndrome
Camptodactyly, Brachycephaly, Atrial septal defect OMIM:611961
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve morphology, ... ORPHA:500
Xq28 (MECP2) duplication
Brachycephaly DECIPHER:45
Al Kaissi Syndrome
Brachycephaly, Small hand, Clinodactyly, Atrial septal defect OMIM:617694
Martsolf Syndrome 1
Broad femoral neck, Short toe, Slender ulna, Cardiomyopathy, Avascular necrosis of the capital fe... OMIM:212720
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Short 5th finger, Small hand, Toe syndactyly, Plagiocephaly, Frontal bossing, Ventricular septal ... OMIM:610759
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Small hand, Plagiocephaly, Frontal bossing, Arachnodactyly, Talipes equinovarus, Tapered distal p... ORPHA:371364
Antley-Bixler Syndrome
Camptodactyly of finger, Femoral bowing, Turricephaly, Arachnodactyly, Brachycephaly, Craniosynos... ORPHA:83
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Cleft lip, Long philtrum, Anteverted nares, H... OMIM:620568
Choanal Atresia
Respiratory distress, Chronic sinusitis, Nasal congestion ORPHA:137914
Rothmund-Thomson Syndrome
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,... ORPHA:2909
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Cryptorchidism OMIM:616202
Multicentric Osteolysis, Nodulosis, And Arthropathy
Thin metatarsal cortices, Distal tapering of metatarsals, Finger swelling, Carpal osteolysis, Thi... OMIM:259600
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes ORPHA:70588
Biotinidase Deficiency
Optic atrophy, Myelopathy, Respiratory distress, Apnea, Hyperventilation, Optic neuropathy ORPHA:79241
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Polyhydramnios, Brachycephaly, Plagiocephaly, Frontal bossing OMIM:617296
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Spina bifida occulta, Plagiocephaly OMIM:619227
Intellectual Disability-Strabismus Syndrome
Plagiocephaly, Talipes equinovarus, Atrial septal defect, Congenital finger flexion contractures,... ORPHA:363528
Adnp Syndrome
Depressed nasal bridge, Recurrent upper respiratory tract infections, Thick lower lip vermilion, ... ORPHA:404448
Sweeney-Cox Syndrome
Short distal phalanx of finger, Polyhydramnios, Patent foramen ovale, 2-4 finger syndactyly, 2-5 ... OMIM:617746
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Respiratory distress, Hydrocephalus, Thick vermilion border, Macroglossia, Short nose ORPHA:505248
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Plagiocephaly, Atrioventricular canal defect, Patent ductus arteriosus, Spina bifida, Dolichoceph... OMIM:619480
Aica-Ribosiduria
Brachycephaly ORPHA:250977
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Congenital ... ORPHA:209905
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly OMIM:620240
Malan Overgrowth Syndrome
Scaphocephaly, Plagiocephaly, Frontal bossing ORPHA:420179
Slc35A1-Cdg
Respiratory distress ORPHA:238459
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Respiratory distress, Intestinal malrotation, Abse... ORPHA:210122
Cartilage-Hair Hypoplasia
Small hand, Spinal dysraphism, Rhizomelia, Micromelia, Abnormal diaphysis morphology, Cardiomyopa... ORPHA:175
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Turricephaly, Talipes equinovarus, Hydrocephalus, Polyhydramnios, Frontal bossing,... OMIM:613603
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Beck-Fahrner Syndrome
Cardiomegaly, Brachycephaly, Ventricular septal defect OMIM:618798
Congenital Disorder Of Glycosylation, Type Iiw
Type I diabetes mellitus, Bilateral choanal atresia, Underdeveloped nasal alae, Ankyloglossia, Mi... OMIM:619525
Cerebellar Ataxia-Hypogonadism Syndrome
Clinodactyly of the 5th finger, Brachycephaly ORPHA:1173
Microphthalmia With Linear Skin Defects Syndrome
Wide nasal bridge, Retrognathia, Respiratory distress, Abnormal dental enamel morphology, Abnorma... ORPHA:2556
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Restrictive cardiomyopathy, Brachycephaly, Hypoplasia of the ulna, P... OMIM:615398
Neuroblastoma
Respiratory distress, Elevated circulating catecholamine level, Proptosis, Horner syndrome ORPHA:635
Acrofrontofacionasal Dysostosis 2
Broad thumb, Broad hallux, Brachycephaly, Hand polydactyly, Syndactyly OMIM:239710
Chopra-Amiel-Gordon Syndrome
Brachycephaly OMIM:619504
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis, Plagiocephaly ORPHA:1973
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Micromelia, Camptodactyly of finger, Brachycephaly, ... ORPHA:1784
Norrie Disease
Optic atrophy, Narrow nasal bridge, Cryptorchidism, Hypotelorism, Deeply set eye, Malar flattenin... ORPHA:649
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Nabais Sa-De Vries Syndrome, Type 1
Clinodactyly of the 5th finger, Brachycephaly OMIM:618828
Developmental And Epileptic Encephalopathy 110
Small hand, Posterior plagiocephaly OMIM:620149
Triosephosphate Isomerase Deficiency
Cholelithiasis, Respiratory distress, Death in infancy, Death in adolescence, Optic disc pallor OMIM:615512
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Ulnar deviation of finger, Plagiocephaly, Umbilical hernia, Camptodactyly of finger, Talipes equi... ORPHA:1101
Frontofacionasal Dysplasia
Brachycephaly, Encephalocele ORPHA:1791
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Ulnar deviation of the hand or of fingers of the hand, Arachnodactyly, Talipes equinovarus, Brach... ORPHA:562528
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Broad phalanges of the hand, Ventricular septal defect, Brachycephaly, Bra... OMIM:277600
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Respiratory distress, Smooth philtrum, Hydrocephalus, Glossitis, Stomatitis ORPHA:79282
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Anteriorly placed anus ORPHA:26793
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly OMIM:616083
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Brachycephaly, Abnormal cardiac s... ORPHA:96147
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Brachyceph... ORPHA:2211
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Wide nasal bridge, Cholelithiasis, Pancreatic hypoplasia, Underdeveloped nasal alae, Retrognathia... ORPHA:83617
Infantile Krabbe Disease
Respiratory distress, Decreased nerve conduction velocity, Optic atrophy, Delayed brainstem audit... ORPHA:206436
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, Aphalangy of the hands, Aplasia... OMIM:218600
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Intestinal malrotation, Cryptor... ORPHA:353281
Opitz-Kaveggia Syndrome
Broad thumb, Plagiocephaly, Prominent fingertip pads, Clinodactyly, Radial deviation of finger, B... OMIM:305450
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Brachycephaly, Sagittal... OMIM:603116
Menkes Disease
Brachycephaly, Metaphyseal spurs, Metaphyseal widening OMIM:309400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Talon cusp, Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Inte... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Talon cusp, Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Inte... ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 38
Depressed nasal bridge, Downturned corners of mouth, Tented upper lip vermilion, Deeply set eye, ... OMIM:616393
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Congenital hypothyroidism, Cryptorchidism, Supernumerary nipple ORPHA:2519
Perlman Syndrome
Wide nasal bridge, Depressed nasal bridge, Distal ileal atresia, Everted upper lip vermilion, Vol... OMIM:267000
Mercury Poisoning
Respiratory distress, Dyspnea ORPHA:330021
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Broad phalanges of the hand, Short finger, Umbilical hernia, Broad skull, ... OMIM:608328
Humeroradial Synostosis
Brachycephaly, Humeroradial synostosis OMIM:236400
Infant Acute Respiratory Distress Syndrome
Tachypnea, Nasal flaring ORPHA:70587
20Q11.2 Microduplication Syndrome
Palpebral edema, Trigonocephaly, Brachycephaly, Periorbital edema, Clinodactyly of the 5th finger... ORPHA:363659
Hyperphosphatasia-Intellectual Disability Syndrome
Plagiocephaly, Clinodactyly, Oligohydramnios, Brachycephaly, Shortening of all distal phalanges o... ORPHA:247262
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Stomatitis OMIM:612852
Frontonasal Dysplasia 3
Brachycephaly OMIM:613456
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Umbilical hernia OMIM:616579
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormal spinal cord morphology ORPHA:53721
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Short thumb, Syringomyelia, Brachycephaly, Clinodactyly of the 5th finger, Frontal bossing, Tethe... OMIM:616728
Alternating Hemiplegia Of Childhood
Downturned corners of mouth, Respiratory distress, Apnea, Exaggerated cupid's bow, Abnormal auton... ORPHA:2131
7Q31 Microdeletion Syndrome
Plagiocephaly, Clinodactyly of the 2nd finger, Prominent fingertip pads, Atrial septal defect, Pa... ORPHA:251061
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Brachycephaly, Short foot OMIM:300260
Aymé-Gripp Syndrome
Plagiocephaly, Radioulnar synostosis, Brachycephaly, Hydrocephalus, Craniosynostosis, Camptodacty... ORPHA:1272
Apert Syndrome
Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Brachyturricephaly, Aplasia/Hypoplasi... ORPHA:87
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Lambdoidal ... OMIM:101400
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue, Respiratory distress, Apnea, Hypothyroidism, Abnorma... ORPHA:3206
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Macroglossia, Apnea, Hydrocephalus OMIM:261740
Microphthalmia, Syndromic 1
High, narrow palate, Tooth malposition, Dental crowding, Optic disc coloboma, Cleft upper lip, Cr... OMIM:309800
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Intellectual Developmental Disorder, Autosomal Dominant 64
Clinodactyly of the 5th finger, Plagiocephaly, Prominent fingertip pads OMIM:619188
Galloway-Mowat Syndrome 4
Plagiocephaly, Tapered finger OMIM:617730
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Parachute mitral valve, Tetralogy of Fallot, Atrioventricular canal defec... OMIM:265380
Kleefstra Syndrome 1
Talipes equinovarus, Brachycephaly, Conotruncal defect, Brachydactyly OMIM:610253
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Flared metaphysis, Mitral valve prolapse, Ventricular septal defec... OMIM:249420
Au-Kline Syndrome
Plagiocephaly, Overlapping toe, Syringomyelia, Postaxial polydactyly, Dolichocephaly, Sagittal cr... OMIM:616580
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Broad distal phalanx of finger, Enlarged interphalangeal joints, Abnormality of the epiphysis of ... ORPHA:2988
Cerebrooculonasal Syndrome
Brachycephaly, Postaxial hand polydactyly ORPHA:66625
Distal Deletion 3P
Umbilical hernia, Atrioventricular canal defect, Brachycephaly, Postaxial hand polydactyly, Clino... ORPHA:1620
Branchiooculofacial Syndrome
Retinal coloboma, Intrauterine growth retardation, Branchial anomaly, Low posterior hairline, Sho... OMIM:113620
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Micromelia, Broad hallux, Brachycephaly, Brachydactyly, Syndactyly OMIM:614800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Respiratory distress, Ileus, Abnormal intestine morphology, Gastritis, ... ORPHA:37042
Cerebrooculonasal Syndrome
Proboscis, Encephalocele, Postaxial polydactyly, Brachycephaly, Hydrocephalus, Postaxial hand pol... OMIM:605627
Hamamy Syndrome
Complete atrioventricular canal defect, Long toe, Tapered finger, Brachycephaly, Atrial septal de... OMIM:611174
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Small hand, Plagiocephaly, Genu valgum, Metatarsus adductus, Normal pressure hydrocephalus, Short... ORPHA:300570
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly OMIM:612379
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Small hand, Plagiocephaly, Brachycephaly, Hydrocephalus, Short foot ORPHA:500055
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Anteverted nares, Open mouth, Hypertelorism, Decreased sensory nerve conduc... OMIM:615273
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal femur morphology, Plagiocephaly, Abnormal fibula morphology ORPHA:2063
Trisomy 9P
Clinodactyly of the 5th finger, Brachycephaly, Brachydactyly ORPHA:236
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Brachyce... OMIM:101800
Congenital Disorder Of Glycosylation, Type Iit
Brachycephaly, Small hand, Short foot, Sandal gap OMIM:618885
Momo Syndrome
Brachycephaly, Frontal bossing, Large hands OMIM:157980
Cranioectodermal Dysplasia 2
Rhizomelia, Plagiocephaly, Clinodactyly, Patent foramen ovale, Polydactyly, Dolichocephaly, Left ... OMIM:613610
Dihydropyrimidinase Deficiency
Talipes equinovarus, Short phalanx of finger, Plagiocephaly OMIM:222748
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Plagiocephaly, Clinodactyly, Broad 2nd toe, Umbilical hernia, Tetralogy of Fallot, Ventricular se... OMIM:280000
Alg9-Cdg
Rhizomelia, Flared metaphysis, Abnormal heart morphology, Oligohydramnios, Ventricular septal def... ORPHA:79328
Down Syndrome
Sandal gap, Clinodactyly, Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventr... OMIM:190685
White-Sutton Syndrome
Broad thumb, Patent foramen ovale, Brachycephaly, Atrial septal defect, Brachydactyly, Patent duc... OMIM:616364
Loeys-Dietz Syndrome 5
Bilateral coxa valga, Patent foramen ovale, Ventricular septal defect, Arachnodactyly, Talipes eq... OMIM:615582
Fucosidosis
Cardiomegaly, Brachycephaly ORPHA:349
Carpenter Syndrome 2
Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, Atrial septal defect, Dextrocardia... OMIM:614976
X-Linked Intellectual Disability, Wilson Type
Brachycephaly ORPHA:85290
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Brachycephaly, Metatarsus adductus, Camptodactyly, Calcaneovalgus deformity OMIM:612513
9P13 Microdeletion Syndrome
Clinodactyly of the 5th finger, Brachycephaly, Umbilical hernia ORPHA:324313
Cryptococcosis
Respiratory distress, Dyspnea, Abnormal cranial nerve morphology, Hydrocephalus ORPHA:1546
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections ORPHA:333
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Decreased amplitude of sensory action ... OMIM:618733
De Barsy Syndrome
Umbilical hernia, Ventricular septal defect, Talipes equinovarus, Brachycephaly, Adducted thumb, ... ORPHA:2962
Den Hoed-De Boer-Voisin Syndrome
Small hand, Sandal gap, Oligohydramnios, Ventricular septal defect, 2-3 toe syndactyly, Brachycep... OMIM:619229
Cree Impaired Intellectual Development Syndrome
Brachycephaly, Cutaneous finger syndactyly, Rocker bottom foot OMIM:606851
Craniofrontonasal Syndrome
Coronal craniosynostosis, Toe syndactyly, Broad hallux, Umbilical hernia, Brachycephaly, Brachyda... OMIM:304110
Pseudohypoparathyroidism Type 1C
Depressed nasal bridge, Pituitary resistance to thyroid hormone, Elevated circulating parathyroid... ORPHA:79444
Trichohepatoneurodevelopmental Syndrome
Plagiocephaly, Overlapping toe, Fibular bowing, Ventricular septal defect, Talipes equinovarus, B... OMIM:618268
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Broad thumb, Plagiocephaly, Short thumb, Broad hallux, Turricephaly, Bilateral talipes equinovaru... OMIM:620224
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fifth metatarsal, Plagiocephaly, 2-3 toe syndactyly, Clinodactyly of the 5th toe, Short fou... OMIM:261990
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Lig4 Syndrome
Clinodactyly of the 5th finger, Brachycephaly, Biparietal narrowing ORPHA:99812
Ulbright-Hodes Syndrome
Depressed nasal bridge, Respiratory distress, Micrognathia, Narrow mouth, Cryptorchidism, Materna... ORPHA:3404
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy OMIM:618426
Intellectual Developmental Disorder, Autosomal Dominant 1
Sandal gap, Brachycephaly, Clinodactyly of the 5th finger, Short foot, Frontal bossing, Short mid... OMIM:156200
Congenital Enterovirus Infection
Respiratory distress ORPHA:292
Alg12-Cdg
Posterior plagiocephaly, Sandal gap, Biventricular hypertrophy, Muscular ventricular septal defec... ORPHA:79324
48,Xxxy Syndrome
Talipes equinovarus, Radioulnar synostosis, Brachycephaly, Clinodactyly of the 5th finger, Coxa v... ORPHA:96263
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea, Sinusitis ORPHA:36234
Down Syndrome
Secundum atrial septal defect, Sandal gap, Umbilical hernia, Tetralogy of Fallot, Atrioventricula... ORPHA:870
Oculopharyngodistal Myopathy 1
Respiratory distress, High palate, Facial palsy OMIM:164310
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormal finger morphology, Abnormal toe morphology, Cranial asymmetry OMIM:163200
2P15P16.1 Microdeletion Syndrome
Toe clinodactyly, Sandal gap, Camptodactyly of finger, Brachycephaly, Metatarsus adductus, Polyhy... ORPHA:261349
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Complete atrioventricular canal defect, F... OMIM:617925
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hand clenching, Clubbing of toes, Plagiocephaly, Arachnodactyly, Metaphyseal widening, Slender lo... OMIM:620083
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Ventricula... OMIM:263520
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Short foot, Plagiocephaly OMIM:615471
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Brachycephaly, Flat occiput OMIM:618797
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal cupping, Bowing of the long bones, Metaphyseal chondrodysplasia, Brachycephaly, Clino... OMIM:156400
Dysostosis, Stanescu Type
Micromelia, Bowing of the long bones, Brachycephaly, Brachydactyly, Abnormal metaphysis morphology ORPHA:1798
Momo Syndrome
Brachycephaly, Femoral bowing, Frontal bossing, Large hands ORPHA:2563
Kleefstra Syndrome
Tetralogy of Fallot, Ventricular septal defect, Talipes equinovarus, Bicuspid aortic valve, Brach... ORPHA:261494
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,... OMIM:150400
Hunter-Macdonald Syndrome
Umbilical hernia, Mitral valve prolapse, 2-3 toe syndactyly, Bicuspid aortic valve, Brachycephaly... OMIM:611962
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Humeroradial synostosis, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis... ORPHA:95699
Mosaic Variegated Aneuploidy Syndrome 1
Oligohydramnios, Brachycephaly, Hydrocephalus, Atrial septal defect, Pulmonic stenosis OMIM:257300
Joubert Syndrome 1
Postaxial foot polydactyly, Plagiocephaly, Clinodactyly, Occipital myelomeningocele, Postaxial ha... OMIM:213300
9Q33.3Q34.11 Microdeletion Syndrome
Plagiocephaly, Patellar hypoplasia, Patellar aplasia, Talipes equinovarus, Brachycephaly, Bilater... ORPHA:495818
Mosaic Trisomy 20
Craniofacial asymmetry, Clinodactyly, Abnormal mitral valve morphology, Dysplastic tricuspid valv... ORPHA:1724
Congenital Disorder Of Glycosylation, Type Iia
Brachycephaly, Proximal placement of thumb, Coxa valga, Ventricular septal defect OMIM:212066
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Myelomeningocele, Posteriorly placed anus, Hydrocephalus, Hypertelorism, Aq... OMIM:306955
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Macroglossia ORPHA:308552
Fibrochondrogenesis
Plagiocephaly, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Brachydactyly,... ORPHA:2021
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... ORPHA:3103
Marshall Syndrome
Thickened calvaria, Brachycephaly, Genu valgum, Frontal bossing ORPHA:560
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea, Dyspnea OMIM:610913
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Brachycephaly OMIM:614222
Gorlin Syndrome
Cardiac fibroma, Arachnodactyly, Brachycephaly, Hydrocephalus, Brachydactyly, Frontal bossing ORPHA:377
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Short thumb, Ectrodactyly, Oligodactyly, Absent hand, Truncus arteriosus, Abnormal... ORPHA:2538
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Aplasia of the parotid gland, Delayed erupt... OMIM:149730
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Ventricular septal defect, Brachycephaly, Hydrocephalus, Atrial septal def... ORPHA:96121
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Orofacial cleft, Apnea ORPHA:17
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Plagiocephaly, Brachydactyly, Postaxial hand polydactyly ORPHA:2916
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Tarsal synostosis, Fro... ORPHA:85199
Alpha-Mannosidosis, Infantile Form
Cranial hyperostosis, Umbilical hernia, Genu valgum, Cortical thickening of long bone diaphyses, ... ORPHA:309282
Duane Retraction Syndrome
Plagiocephaly, Preaxial hand polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, T... ORPHA:233
Developmental And Epileptic Encephalopathy 84
Plagiocephaly OMIM:618792
Tuberous Sclerosis Complex
Pituitary adenoma, Respiratory distress, Pheochromocytoma, Parathyroid hyperplasia, Carcinoid tum... ORPHA:805
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Upper limb undergrowth, Abnormal heart morphology, Brachycephaly, Atr... ORPHA:369837
Angelman Syndrome
Brachycephaly, Flat occiput OMIM:105830
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro... OMIM:164210
Warburg Micro Syndrome 4
Brachycephaly OMIM:615663
Lujo Hemorrhagic Fever
Respiratory distress, Rhinitis ORPHA:319213
Witteveen-Kolk Syndrome
Iris coloboma, Intrauterine growth retardation, Branchial fistula OMIM:613406
Osteogenesis Imperfecta, Type Xi
Brachycephaly, Coxa vara OMIM:610968
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Ulnar deviation of the 2nd finger, Ulnar deviation of the 3rd finger, Brachycephaly, Long fingers... ORPHA:456312
Specc1L-Related Hypertelorism Syndrome
Short toe, Finger syndactyly, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, B... ORPHA:1519
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Episodic respiratory distress, Gastritis, Tachypnea, Facial palsy ORPHA:31826
Pseudohypoparathyroidism Type 1A
Depressed nasal bridge, Pituitary resistance to thyroid hormone, Elevated circulating parathyroid... ORPHA:79443
Warburg Micro Syndrome 2
Clinodactyly of the 5th toe, Brachycephaly, Overlapping toe, Clinodactyly of the 4th toe OMIM:614225
Cartilage-Hair Hypoplasia
Metaphyseal cupping, Femoral bowing, Brachycephaly, Metaphyseal widening, Metaphyseal dysplasia, ... OMIM:250250
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Talipes equinovarus, Brachycephaly, Atrial septal defect, Long fingers, Postaxia... OMIM:213980
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Brachycephaly, Double outlet... OMIM:618223
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress OMIM:620306
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Thumb contracture, Large placenta, Ventricular septal defect, Small proximal tibial ... ORPHA:96334
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Camptodactyly, Flexion contracture of finger, Abnormal spinal cord morphology ORPHA:88628
Carey-Fineman-Ziter Syndrome 1
Talipes equinovarus, Plagiocephaly, Abnormal cardiac septum morphology, Tapered finger OMIM:254940
Turnpenny-Fry Syndrome
Small hand, Plagiocephaly, Clinodactyly, Overlapping toe, Mitral valve prolapse, Prominent interp... OMIM:618371
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Adenylosuccinase Deficiency
Brachycephaly OMIM:103050
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Macroglossia, Exertional dyspnea, Orthopnea ORPHA:365
Fontaine Progeroid Syndrome
Short distal phalanx of finger, Coronal craniosynostosis, Umbilical hernia, Abnormal heart morpho... OMIM:612289
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Plagiocephaly OMIM:618644
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Respiratory distress, Erosion of oral mucosa, Enamel hypoplasia,... ORPHA:79404
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology ORPHA:139396
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Long hallux, Thickened calvaria, Talipes equinovarus, Brachycephaly, Long fingers, Hyperextensibi... OMIM:309583
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Frontal bossing OMIM:617193
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly OMIM:618106
Acute Disseminated Encephalomyelitis
Cerebral edema, Myelitis, Abnormal spinal cord morphology ORPHA:83597
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Prominent nose, Narrow mouth, Hypertelorism OMIM:614748
Septopreoptic Holoprosencephaly
Precocious puberty, Anteriorly placed anus, Central diabetes insipidus, Ethmoidal encephalocele, ... ORPHA:280195
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Brachycephaly, Atrial septal defect, Metatarsus adductus, Clinodactyly... OMIM:244450
Linear Nevus Sebaceus Syndrome
Prominent occiput, Plagiocephaly, Biparietal narrowing, Frontal bossing ORPHA:2612
Cocaine Intoxication
Respiratory distress, Colitis, Tachypnea, Hyperventilation, Intestinal perforation ORPHA:90068
Sepsis In Premature Infants
Dyspnea, Nasal flaring, Enterocolitis ORPHA:90051
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Apnea, Episodic respiratory distress, Dyspnea, Hyperventilation ORPHA:255210
Cerebrofaciothoracic Dysplasia
Polyhydramnios, Brachycephaly ORPHA:1394
Osteogenesis Imperfecta
Rhizomelia, Micromelia, Umbilical hernia, Abnormal tibia morphology, Abnormal femur morphology, G... ORPHA:666
White-Sutton Syndrome
Abnormal heart morphology, Brachycephaly ORPHA:468678
Shwachman-Diamond Syndrome 1
Respiratory distress, Steatorrhea OMIM:260400
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Polyhydramnios, Plagiocephaly ORPHA:496641
Peters Plus Syndrome
Hypoplastic left heart, Rhizomelia, Toe syndactyly, Short toe, Micromelia, Umbilical hernia, Clin... ORPHA:709
Neurofaciodigitorenal Syndrome
Plagiocephaly, Abnormal distal phalanx morphology of finger, Brachycephaly, Triphalangeal thumb, ... ORPHA:2673
Bifid Nose With Or Without Anorectal And Renal Anomalies
Brachycephaly, Ebstein anomaly of the tricuspid valve OMIM:608980
Cornelia De Lange Syndrome 1
Finger aplasia, Micromelia, Hypoplastic radial head, Ventricular septal defect, 2-3 toe syndactyl... OMIM:122470
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly OMIM:619244
Pmm2-Cdg
Mandibular prognathia, Elevated circulating thyroid-stimulating hormone concentration, Increased ... ORPHA:79318
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Broad thumb, Camptodactyly of finger, Brachycephaly, Frontal bossing, Tapered finger ORPHA:1236
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Toxic Epidermal Necrolysis
Respiratory distress, Tracheoesophageal fistula, Intestinal perforation ORPHA:537
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly, Proximal radio-ulnar synostosis, Large hands ORPHA:2062
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Parietal foramina, Preaxial foot pol... OMIM:603671
Skin Creases, Congenital Symmetric Circumferential, 1
Brachycephaly, Long fingers OMIM:156610
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dolichocephaly, Plagiocephaly, Frontal bossing, Increased femoral anteversion OMIM:619005
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Finger clinodactyly, Brachycephaly, Brachydactyly, Camptodactyly, Rocker bottom foot, Tapered finger OMIM:601353
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Respiratory distress, Abnormal stomach morphology, Trache... ORPHA:141127
Coccidioidomycosis
Respiratory distress, Abnormality of the endocrine system, Hydrocephalus ORPHA:228123
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ascites, Brachycephaly, Plagiocephaly, Tapered finger OMIM:301072
Ayme-Gripp Syndrome
Craniofacial asymmetry, Radioulnar synostosis, Tapered finger, Brachycephaly, Brachydactyly, Camp... OMIM:601088
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Toe clinodactyly, Posterior plagiocephaly, Sandal gap, Umbilical hernia, Scaphocephaly, Ventricul... OMIM:620330
Congenital Tracheomalacia
Recurrent upper respiratory tract infections, Intercostal retractions, Apnea, Tracheoesophageal f... ORPHA:95430
Gitelman Syndrome
Type I diabetes mellitus, Graves disease, Respiratory distress, Type II diabetes mellitus, Hashim... ORPHA:358
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy OMIM:617156
Intellectual Developmental Disorder, Autosomal Dominant 29
Broad hallux, Sandal gap, Cutaneous finger syndactyly, Brachycephaly, Frontal bossing OMIM:616078
Gapo Syndrome
Plagiocephaly, Frontal bossing, Umbilical hernia OMIM:230740
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Brachycephaly, Calcaneovalgus deformity, Long fingers, Tapered finger ORPHA:521445
Q Fever
Respiratory distress ORPHA:781
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Frontal bossing, Decreased fibular diameter, Dysplasia of the femoral head, Genu valg... OMIM:619127
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Plagiocephaly, Secundum atrial septal defect, Tibial torsion, Talipes equinovarus... OMIM:613355
Branchioskeletogenital Syndrome
Umbilical hernia, Upper limb peromelia, Blepharochalasis, Thickened calvaria, Brachycephaly, Amel... ORPHA:1299
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Colitis, Dyspnea ORPHA:3260
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress OMIM:256810
Colchicine Poisoning
Respiratory distress ORPHA:31824
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Epistaxis, Dyspnea ORPHA:340
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Umbilical hernia, Mitral valve prolapse, Arachnodactyly, Talipes equinovarus, Tricuspid valve pro... OMIM:601776
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Polyhydramnios, Plagiocephaly OMIM:618548
Listeriosis
Respiratory distress, Miscarriage ORPHA:533
Roberts-Sc Phocomelia Syndrome
Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Stillbirth, Polyhydramnio... OMIM:268300
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:139399
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Brachycephaly, Brachydactyly, Clinodactyly of the 5th finger, Short foot, Fron... ORPHA:1974
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly OMIM:300749
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Plagiocephaly, Hypoplasia of proximal radius, Abnormal heart morphology, Patent foram... ORPHA:444077
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short distal phalanx of finger, Tethered cord, Brachycephaly, Brachydactyly, Polyhydramnios, Shor... OMIM:617157
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Ulnar deviation of the 2nd finger, Ulnar deviation of the 3rd finger, Talipes equinovarus, Brachy... OMIM:616263
Kbg Syndrome
Radial deviation of finger, Ulnar deviation of the 2nd finger, Brachycephaly, Cutaneous syndactyl... OMIM:148050
X-Linked Intellectual Disability, Snyder Type
Arachnodactyly, Long toe, Slender toe, Brachycephaly, Camptodactyly, Cerebral edema ORPHA:3063
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly, Broad hallux, Postaxial polydactyly, Hydrocephalus, Clinodactyly of the 5th finger ORPHA:457284
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions ORPHA:1329
Helsmoortel-Van Der Aa Syndrome
Small hand, Posterior plagiocephaly, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad h... OMIM:615873
Chromosome 1P36 Deletion Syndrome, Distal
Short 5th finger, Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Frontal b... OMIM:607872
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Colon cancer, Abnormality of the sphenoid sinus, Sialade... ORPHA:449563
X-Linked Intellectual Disability, Armfield Type
Small hand, Brachycephaly, Abnormal cardiac septum morphology, Short foot, Patent ductus arteriosus ORPHA:85276
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Xerostomia, Oral synechia, Respiratory distress, Oral mucosal blisters, Abnormality of the anus, ... ORPHA:95455
Tetrasomy 9P
Small hand, Umbilical hernia, Abnormal mitral valve morphology, Patent foramen ovale, Talipes equ... ORPHA:3310
Kasabach-Merritt Phenomenon
Respiratory distress, Hypopnea ORPHA:2330
Monosomy 9P
Trigonocephaly, Abnormality of the tarsal bones, Calvarial skull defect, Brachycephaly, Postaxial... ORPHA:261112
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Unilateral brachydactyly, Plagiocephaly, Syndactyly ORPHA:1521
Nocardiosis
Respiratory distress, Abnormality of the adrenal glands, Dyspnea, Thyroiditis ORPHA:31204
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Plagiocephaly, Genu valgum, Ventricular septal defect, Talipes equinovarus, Bicuspid aortic valve... OMIM:619475
1P36 Deletion Syndrome
Dilated cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Tetralogy of Fa... ORPHA:1606
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Brachycephaly, Broad thumb, Short metacarpal OMIM:201180
Arthrogryposis And Ectodermal Dysplasia
Camptodactyly, Brachycephaly OMIM:601701
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Frontal bossing, Short humerus, 2-3 toe syndactyly, Thickened calvaria, ... ORPHA:3455
Faciodigitogenital Syndrome, Autosomal Recessive
Brachycephaly, Metatarsus adductus, Camptodactyly, Clinodactyly of the 5th finger, Short foot, Sy... OMIM:227330
Plague
Inflammation of the large intestine, Chapped lip, Respiratory distress, Ileitis, Enterocolitis, G... ORPHA:707
Renpenning Syndrome 1
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Tetralogy of Fallot, Sit... OMIM:309500
Viss Syndrome
Coronary sinus enlargement, Umbilical hernia, Genu valgum, Right ventricular hypertrophy, Mitral ... OMIM:619472
Congenital Fibrosis Of Extraocular Muscles
Finger aplasia, Plagiocephaly ORPHA:45358
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Brachycephaly, Hallux valgus, Mitral valve ca... ORPHA:2072
Scimitar Syndrome
Respiratory distress ORPHA:185
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Osteopetrosis With Renal Tubular Acidosis
Thickened calvaria, Brachycephaly, Oligohydramnios, Plagiocephaly ORPHA:2785
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Oligodactyly, Increased nuchal tran... ORPHA:199
Liver Disease, Severe Congenital
Plagiocephaly, Umbilical hernia, Ascites, Dilatation of the ventricular cavity, Patent foramen ov... OMIM:619991
Amoebiasis Due To Free-Living Amoebae
Cerebral edema, Abnormal spinal cord morphology, Myocardial necrosis ORPHA:68
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Retrognathia, Increased circulating prolactin concentration, Cryptorchidism, ... ORPHA:438213
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Brachycephaly, Prominent fingertip pads, Long fingers, Tapered finger OMIM:619950
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Small hand, Plagiocephaly, Secundum atrial septal defect, Finger clinodactyly, Sagittal craniosyn... OMIM:620455
Congenital Myopathy 13
Bilateral talipes equinovarus, Brachycephaly OMIM:255995
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short femoral neck, Flared metaphysis, Carpal bone hypoplasia, Brachycephaly, Metaphyseal striati... OMIM:610442
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:247245
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Plagiocephaly ORPHA:51
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Carpal synostosis, Femoral bowing, Oligohydramnios, Humeroradial synostosis, Ulnar bowing, Arachn... OMIM:201750
6Q Terminal Deletion Syndrome
Dolichocephaly, Plagiocephaly, Hallux valgus, Clinodactyly ORPHA:75857
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Aicardi Syndrome
Small hand, Plagiocephaly ORPHA:50
Faundes-Banka Syndrome
Fetal ascites, Plagiocephaly, Frontal bossing, Flexion contracture of toe OMIM:619376
Trichorhinophalangeal Syndrome, Type Ii
2-4 toe syndactyly, Plagiocephaly, Skull asymmetry, Avascular necrosis of the capital femoral epi... OMIM:150230
Igg4-Related Kidney Disease
Chronic sinusitis, Abnormality of the anterior pituitary, Thyroiditis, Sialadenitis ORPHA:449395
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Long philtrum, Thin vermilion border, Retrognathia ORPHA:99646
Common Variable Immunodeficiency
Brachycephaly ORPHA:1572
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Toe syndactyly, Plagiocephaly, Finger syndactyly, Thumb contracture,... OMIM:607932
Eisenmenger Syndrome
Respiratory distress, Exertional dyspnea ORPHA:97214
Leptospirosis
Respiratory distress, Papilledema ORPHA:509
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Plagiocephaly, Hydrocephalus ORPHA:3042
Primary Sjögren Syndrome
Xerostomia, Abnormal spinal cord morphology ORPHA:289390
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pancreatic calcification, Adrenal calcification ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Exertional dyspnea, Paroxysmal dyspnea, Apneic episodes in infancy ORPHA:99125
Mowat-Wilson Syndrome
Aortic valve stenosis, Broad hallux, Abnormal heart morphology, Tetralogy of Fallot, Genu valgum,... ORPHA:2152
Aspartylglucosaminuria
Thickened calvaria, Brachycephaly OMIM:208400
Primrose Syndrome
Short distal phalanx of finger, Brachycephaly, Genu valgum, Metatarsus adductus OMIM:259050

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Disp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Disp1.

No publications found that use IMPC mice or data for Disp1.

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