RECON progeroid syndrome
Summary
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Delayed eruption of permanent teeth
Delayed eruption of permanent teeth
- MedGen UID: 340353
- Concept ID: C1849540
- Finding: Finding
Abnormality of head or neck
- Dental crowding
Dental crowding
- MedGen UID: 11850
- Concept ID: C0040433
- Finding: Finding
Abnormality of head or neck
- Narrow nasal ridge
Narrow nasal ridge
- MedGen UID: 373404
- Concept ID: C1837761
- Finding: Finding
Abnormality of head or neck
- Prominent nasal bridge
Prominent nasal bridge
- MedGen UID: 343051
- Concept ID: C1854113
- Finding: Finding
Abnormality of head or neck
- Round face
Round face
- MedGen UID: 116087
- Concept ID: C0239479
- Finding: Finding
Abnormality of head or neck
- Smooth philtrum
Smooth philtrum
- MedGen UID: 222980
- Concept ID: C1142533
- Finding: Finding
Abnormality of head or neck
- Thin vermilion border
Thin vermilion border
- MedGen UID: 108294
- Concept ID: C0578038
- Finding: Finding
Abnormality of head or neck
- Underdeveloped nasal alae
Underdeveloped nasal alae
- MedGen UID: 322332
- Concept ID: C1834055
- Finding: Congenital Abnormality
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Arachnodactyly
Arachnodactyly
- MedGen UID: 2047
- Concept ID: C0003706
- Finding: Congenital Abnormality
Abnormality of limbs
- Long thumb
Long thumb
- MedGen UID: 322130
- Concept ID: C1833148
- Finding: Finding
Abnormality of limbs
- Proximal placement of thumb
Proximal placement of thumb
- MedGen UID: 356033
- Concept ID: C1865572
- Finding: Finding
Abnormality of limbs
- Arachnodactyly
- Abnormality of the eye
- Deeply set eye
Deeply set eye
- MedGen UID: 473112
- Concept ID: C0423224
- Finding: Finding
Abnormality of the eye
- Red eye
Red eye
- MedGen UID: 68614
- Concept ID: C0235267
- Finding: Sign or Symptom
Abnormality of the eye
- Deeply set eye
- Abnormality of the immune system
- Keratoconjunctivitis sicca
Keratoconjunctivitis sicca
- MedGen UID: 9620
- Concept ID: C0022575
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Keratoconjunctivitis sicca
- Abnormality of the integument
- Absent lower eyelashes
Absent lower eyelashes
- MedGen UID: 870379
- Concept ID: C4024824
- Finding: Finding
Abnormality of the integument
- Cutaneous photosensitivity
Cutaneous photosensitivity
- MedGen UID: 87601
- Concept ID: C0349506
- Finding: Pathologic Function
Abnormality of the integument
- Dry skin
Dry skin
- MedGen UID: 56250
- Concept ID: C0151908
- Finding: Sign or Symptom
Abnormality of the integument
- Hirsutism
Hirsutism
- MedGen UID: 42461
- Concept ID: C0019572
- Finding: Disease or Syndrome
Abnormality of the integument
- Hyperconvex thumb nails
Hyperconvex thumb nails
- MedGen UID: 383650
- Concept ID: C1855290
- Finding: Finding
Abnormality of the integument
- Keratosis pilaris
Keratosis pilaris
- MedGen UID: 82664
- Concept ID: C0263383
- Finding: Disease or Syndrome
Abnormality of the integument
- Livedo reticularis
Livedo reticularis
- MedGen UID: 43223
- Concept ID: C0085642
- Finding: Disease or Syndrome
Abnormality of the integument
- Progeroid facial appearance
Progeroid facial appearance
- MedGen UID: 341830
- Concept ID: C1857710
- Finding: Finding
Abnormality of the integument
- Scaling skin
Scaling skin
- MedGen UID: 472970
- Concept ID: C0237849
- Finding: Finding
Abnormality of the integument
- Thin skin
Thin skin
- MedGen UID: 140848
- Concept ID: C0423757
- Finding: Finding
Abnormality of the integument
- Absent lower eyelashes
- Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Prominence of the premaxilla
Prominence of the premaxilla
- MedGen UID: 412683
- Concept ID: C2749369
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
- Ear malformation
- Attached earlobe
Attached earlobe
- MedGen UID: 867017
- Concept ID: C4021375
- Finding: Finding
Ear malformation
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Ear malformation
- Attached earlobe
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Growth delay
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