Acromelic frontonasal dysostosis
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (13 available)
Clinical features
Help- Abnormality of head or neck
- Bifid nasal tip
Bifid nasal tip
- MedGen UID: 140870
- Concept ID: C0426428
- Finding: Finding
Abnormality of head or neck
- Bifid nose
Bifid nose
- MedGen UID: 66379
- Concept ID: C0221363
- Finding: Congenital Abnormality
Abnormality of head or neck
- Broad nasal tip
Broad nasal tip
- MedGen UID: 98424
- Concept ID: C0426429
- Finding: Finding
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft upper lip
Cleft upper lip
- MedGen UID: 40327
- Concept ID: C0008924
- Finding: Congenital Abnormality
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Midline defect of the nose
Midline defect of the nose
- MedGen UID: 870948
- Concept ID: C4025411
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Midline facial cleft
Midline facial cleft
- MedGen UID: 867619
- Concept ID: C4022007
- Finding: Congenital Abnormality
Abnormality of head or neck
- Submucous cleft soft palate
Submucous cleft soft palate
- MedGen UID: 868770
- Concept ID: C4023175
- Finding: Congenital Abnormality
Abnormality of head or neck
- Telecanthus
Telecanthus
- MedGen UID: 140836
- Concept ID: C0423113
- Finding: Finding
Abnormality of head or neck
- U-Shaped upper lip vermilion
U-Shaped upper lip vermilion
- MedGen UID: 383857
- Concept ID: C1856202
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Bifid nasal tip
- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Mesomelic leg shortening
Mesomelic leg shortening
- MedGen UID: 369436
- Concept ID: C1969178
- Finding: Finding
Abnormality of limbs
- Patellar hypoplasia
Patellar hypoplasia
- MedGen UID: 327021
- Concept ID: C1840068
- Finding: Finding
Abnormality of limbs
- Polydactyly of a biphalangeal thumb
Polydactyly of a biphalangeal thumb
- MedGen UID: 237235
- Concept ID: C1395852
- Finding: Congenital Abnormality
Abnormality of limbs
- Preaxial foot polydactyly
Preaxial foot polydactyly
- MedGen UID: 389171
- Concept ID: C2112942
- Finding: Finding
Abnormality of limbs
- Short tibia
Short tibia
- MedGen UID: 338005
- Concept ID: C1850259
- Finding: Finding
Abnormality of limbs
- Syndactyly
Syndactyly
- MedGen UID: 52619
- Concept ID: C0039075
- Finding: Congenital Abnormality
Abnormality of limbs
- Clubfoot
- Abnormality of prenatal development or birth
- Absent fetal nasal bone
Absent fetal nasal bone
- MedGen UID: 672184
- Concept ID: C0685228
- Finding: Congenital Abnormality
Abnormality of prenatal development or birth
- Absent fetal nasal bone
- Abnormality of the cardiovascular system
- Basilar artery fenestration
Basilar artery fenestration
- MedGen UID: 1863741
- Concept ID: C5937515
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Dilation of Virchow-Robin spaces
Dilation of Virchow-Robin spaces
- MedGen UID: 342926
- Concept ID: C1853618
- Finding: Finding
Abnormality of the cardiovascular system
- Persistent falcine venous sinus
Persistent falcine venous sinus
- MedGen UID: 861183
- Concept ID: C4012746
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Basilar artery fenestration
- Abnormality of the eye
- Glaucoma
Glaucoma
- MedGen UID: 42224
- Concept ID: C0017601
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic nerve hypoplasia
Optic nerve hypoplasia
- MedGen UID: 137901
- Concept ID: C0338502
- Finding: Disease or Syndrome
Abnormality of the eye
- Persistent hyperplastic primary vitreous
Persistent hyperplastic primary vitreous
- MedGen UID: 120583
- Concept ID: C0266568
- Finding: Congenital Abnormality
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Glaucoma
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the integument
- Onychogryposis
Onychogryposis
- MedGen UID: 82671
- Concept ID: C0263537
- Finding: Disease or Syndrome
Abnormality of the integument
- Onychogryposis
- Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Large sella turcica
Large sella turcica
- MedGen UID: 334811
- Concept ID: C1843677
- Finding: Finding
Abnormality of the musculoskeletal system
- Parietal foramina
Parietal foramina
- MedGen UID: 505331
- Concept ID: CN002451
- Finding: Finding
Abnormality of the musculoskeletal system
- Vertical clivus
Vertical clivus
- MedGen UID: 336757
- Concept ID: C1844702
- Finding: Finding
Abnormality of the musculoskeletal system
- Brachycephaly
- Abnormality of the nervous system
- Absent septum pellucidum
Absent septum pellucidum
- MedGen UID: 96561
- Concept ID: C0431371
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Aplasia of the olfactory bulb
Aplasia of the olfactory bulb
- MedGen UID: 1696661
- Concept ID: C5139362
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Calcification of falx cerebri
Calcification of falx cerebri
- MedGen UID: 237237
- Concept ID: C1397139
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cavum septum pellucidum
Cavum septum pellucidum
- MedGen UID: 327087
- Concept ID: C1840380
- Finding: Finding
Abnormality of the nervous system
- Choroid plexus cyst
Choroid plexus cyst
- MedGen UID: 87376
- Concept ID: C0338597
- Finding: Finding
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Encephalocele
Encephalocele
- MedGen UID: 1646412
- Concept ID: C4551722
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Gray matter heterotopia
Gray matter heterotopia
- MedGen UID: 452349
- Concept ID: C0266491
- Finding: Finding
Abnormality of the nervous system
- Hypopituitarism
Hypopituitarism
- MedGen UID: 9386
- Concept ID: C0020635
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Midline central nervous system lipomas
Midline central nervous system lipomas
- MedGen UID: 870525
- Concept ID: C4024973
- Finding: Neoplastic Process
Abnormality of the nervous system
- Periventricular nodular heterotopia
Periventricular nodular heterotopia
- MedGen UID: 358387
- Concept ID: C1868720
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Retrocerebellar cyst
Retrocerebellar cyst
- MedGen UID: 335172
- Concept ID: C1845370
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Tubulonodular pericallosal lipoma
Tubulonodular pericallosal lipoma
- MedGen UID: 1813061
- Concept ID: C5558383
- Finding: Neoplastic Process
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Absent septum pellucidum
- Abnormality of the respiratory system
- Upper airway obstruction
Upper airway obstruction
- MedGen UID: 149266
- Concept ID: C0740852
- Finding: Finding
Abnormality of the respiratory system
- Upper airway obstruction
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
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