Abnormal facial shape, and Scarring

Diseases related with Abnormal facial shape and Scarring

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Scarring that can help you solving undiagnosed cases.


Top matches:

Low match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Low match CHERUBISM


Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.

CHERUBISM Is also known as crbm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHERUBISM

Low match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

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Other less relevant matches:

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Low match POIKILODERMA WITH NEUTROPENIA


Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B


Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

Low match BETHLEM MYOPATHY


Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Low match ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION


ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Low match CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY


Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.

CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY Is also known as bone fragility-contractures-arterial rupture-deafness syndrome|lh3 deficiency|connective tissue disorder due to lh3 deficiency|lysyl hydroxylase 3 deficiency

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Scarring

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Respiratory failure Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Scarring. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


High palate Talipes equinovarus Long philtrum Hernia Inguinal hernia Generalized hypotonia Bruising susceptibility Splenomegaly Low-set ears Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Scoliosis Abnormality of the pinna Frontal bossing Downslanted palpebral fissures Motor delay Pain Muscle weakness Cholestasis Joint laxity Oligohydramnios Renal cyst Abnormality of the liver Macrotia Growth delay Failure to thrive Renal insufficiency Myopathy Malar flattening Short nose Hyperextensible skin Cataract Hyperkeratosis Abnormality of the vasculature Atrophic scars Cutis laxa Hip dislocation Osteopenia Abnormality of the skeletal system Joint dislocation Flexion contracture Mitral valve prolapse Generalized muscle weakness Atrial septal defect Joint hypermobility Arachnodactyly Talipes Protruding ear Mandibular prognathia Midface retrusion Short stature Anteverted nares Progressive visual loss Telecanthus Visual impairment Ptosis Feeding difficulties in infancy Proptosis Round face Respiratory insufficiency Hypertension Hepatomegaly Ventricular septal defect Growth hormone deficiency Pachygyria Cachexia Muscular dystrophy Camptodactyly of finger Congenital hip dislocation Lissencephaly Torticollis Respiratory insufficiency due to muscle weakness EMG abnormality Increased variability in muscle fiber diameter Abnormality of mitochondrial metabolism Limb-girdle muscular dystrophy Congenital muscular dystrophy Facial palsy Multiple joint contractures Mildly elevated creatine phosphokinase Generalized amyotrophy Difficulty climbing stairs Spinal rigidity Ankle contracture Progressive proximal muscle weakness Recurrent lower respiratory tract infections Proximal amyotrophy Follicular hyperkeratosis Type 1 muscle fiber predominance Joint stiffness Hyperhidrosis Proximal muscle weakness Pulmonary insufficiency Bulbous nose Recurrent fractures Convex nasal ridge Overgrowth Congenital diaphragmatic hernia Bradycardia Spina bifida Narrow palpebral fissure Aortic aneurysm Emphysema Aortic root aneurysm Soft skin Arterial stenosis Narrow naris Neonatal hypotonia Biventricular hypertrophy Arterial tortuosity Intussusception Multiple joint dislocation Prominence of the premaxilla Pulmonary artery aneurysm Generalized arterial tortuosity Pulmonary artery dilatation Ataxia Feeding difficulties Kyphosis Muscle fiber necrosis Kyphoscoliosis Rigidity Slender build Respiratory distress Nocturnal hypoventilation Flat face Poor coordination Pulmonary artery stenosis Wolff-Parkinson-White syndrome Cholestatic liver disease Peripheral pulmonary artery stenosis Butterfly vertebrae Dark urine Axenfeld anomaly Hearing impairment Sensorineural hearing impairment Myopia Intrauterine growth retardation Postnatal growth retardation Platyspondyly Downturned corners of mouth Posterior embryotoxon Nail dysplasia Bilateral sensorineural hearing impairment Elbow flexion contracture Coarse hair Hemiplegia Pathologic fracture Dilatation of the cerebral artery Shallow orbits Porencephalic cyst Hypoplasia of the capital femoral epiphysis Diaphragmatic eventration Thenar muscle atrophy J-shaped sella turcica Decreased palmar creases Exocrine pancreatic insufficiency Renal tubular acidosis Impaired mastication Pulmonic stenosis Hyperextensibility at wrists Blindness Increased laxity of ankles Cognitive impairment Patent ductus arteriosus Abnormal heart morphology Acidosis Jaundice Proteinuria Abnormal cardiac septum morphology Retinopathy Stroke Broad forehead Pruritus Malabsorption Long nose Cirrhosis Hepatic failure Hematuria Triangular face Cyanosis Pigmentary retinopathy Tetralogy of Fallot Coarctation of aorta Renal hypoplasia Renal dysplasia Increased body weight Pointed chin Rickets Heart murmur Increased laxity of fingers Subungual hyperkeratosis Prominent forehead Clubbing Hematemesis Potter facies Periportal fibrosis Hypoplasia of the ear cartilage Azotemia Absence of renal corticomedullary differentiation Clubbing of fingers Upper airway obstruction Obstructive sleep apnea Optic neuropathy Striae distensae Constriction of peripheral visual field Abnormality of dental morphology Abnormality of the voice Portal fibrosis Oligodontia Cerebral atrophy Full cheeks Craniosynostosis Brachycephaly Narrow mouth Arthralgia Myalgia Camptodactyly Reduced visual acuity Visual loss Abnormality of the dentition Optic atrophy Peripheral neuropathy Hypersplenism Biliary tract abnormality Mitral regurgitation Bone cyst Congestive heart failure Lower eyelid retraction Marcus Gunn pupil Hepatosplenomegaly Low-set, posteriorly rotated ears Abnormality of the kidney Broad jaw Stage 5 chronic kidney disease Pulmonary hypoplasia Macular scar Dehydration Abnormality of the mandible Depressed nasal ridge Abnormal lung morphology Tubulointerstitial fibrosis Hepatic fibrosis Renal hypoplasia/aplasia Chronic kidney disease Polycystic kidney dysplasia Portal hypertension Enlarged kidney Multiple renal cysts Chronic lung disease Atelectasis Esophageal varix Cholangitis Congenital hepatic fibrosis Pancreatic cysts Hepatic cysts Blue sclerae Dental crowding Pectus excavatum Palmoplantar keratoderma Apraxia Highly arched eyebrow Nyctalopia Alopecia Pneumonia Recurrent respiratory infections Hydronephrosis Respiratory tract infection Skin rash Cough Nail dystrophy Carious teeth Neutropenia Asthma Ventral hernia Otitis media Eczema Cutaneous photosensitivity Recurrent otitis media Recurrent pneumonia Conjunctivitis Myelodysplasia Increased antibody level in blood Wheezing Blepharitis Osteosarcoma Poikiloderma Microcephaly Rod-cone dystrophy Bursitis Shoulder dislocation Neoplasm Pes planus Delayed gross motor development Adducted thumb Intellectual disability Patent foramen ovale Bilateral talipes equinovarus Fragile skin Facial hypotonia Hypoplasia of the musculature Cryptorchidism Molar tooth sign on MRI Short neck Osteoporosis Cone/cone-rod dystrophy Oculomotor apraxia Squared iliac bones Papule Webbed neck Low posterior hairline Osteoarthritis Narrow palate Multicystic kidney dysplasia Redundant skin Bilateral ptosis Hallux valgus Recurrent urinary tract infections Thoracic scoliosis Cerebellar vermis hypoplasia Thin eyebrow Knee dislocation Arterial rupture



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