Abnormal facial shape, and Papule
Diseases related with Abnormal facial shape and Papule
In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Papule that can help you solving undiagnosed cases.
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A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.
LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn
Related symptoms:
- Seizures
- Hypertelorism
- Neoplasm
- Failure to thrive
- Hydrocephalus
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about LARGE CONGENITAL MELANOCYTIC NEVUS
Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia
Related symptoms:
- Ataxia
- Nystagmus
- Strabismus
- Spasticity
- Hyperreflexia
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about SPINOCEREBELLAR ATAXIA TYPE 34
Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.
KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de
Related symptoms:
- Hearing impairment
- Microcephaly
- Sensorineural hearing impairment
- Cleft palate
- Cognitive impairment
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about KERATODERMA HEREDITARIUM MUTILANS
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Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch
Related symptoms:
- Hearing impairment
- Sensorineural hearing impairment
- Muscle weakness
- Cognitive impairment
- Depressed nasal bridge
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2
Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).
JUVENILE HYALINE FIBROMATOSIS Is also known as puretic syndrome|murray-puretic-drescher syndrome|hyalinosis, systemic
Related symptoms:
- Neoplasm
- Failure to thrive
- Pain
- Flexion contracture
- Skeletal muscle atrophy
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about JUVENILE HYALINE FIBROMATOSIS
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
Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.
CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Growth delay
- Sensorineural hearing impairment
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about CINCA SYNDROME
Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).
VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A Is also known as generalized resistance to 1,25-dihydroxyvitamin d|rickets-alopecia syndrome|vitamin d-dependent rickets, type 2a, with or without alopecia|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hypocalcemic vitamin d-
Related symptoms:
- Generalized hypotonia
- Hearing impairment
- Growth delay
- Failure to thrive
- Sensorineural hearing impairment
SOURCES:
OMIM
MENDELIAN
More info about VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A
Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Hypertelorism
- Micrognathia
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about PROLIDASE DEFICIENCY
Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.
FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type
Related symptoms:
- Short stature
- Micrognathia
- Cataract
- Hypertension
- Hepatomegaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE
Top 5 symptoms//phenotypes associated to Abnormal facial shape and Papule
Symptoms // Phenotype |
% cases |
Hearing impairment |
Uncommon - Between 30% and 50% cases
|
Hyperkeratosis |
Uncommon - Between 30% and 50% cases
|
Sensorineural hearing impairment |
Uncommon - Between 30% and 50% cases
|
Subcutaneous nodule |
Uncommon - Between 30% and 50% cases
|
Depressed nasal bridge |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Abnormal facial shape and Papule. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Generalized hirsutism
Hepatomegaly
Micrognathia
Dry skin
Aplasia/Hypoplasia of the skin
Splenomegaly
Failure to thrive
Rare Symptoms - Less than 30% cases
Intellectual disability
Global developmental delay
Coarse facial features
Intellectual disability, mild
Erythema
Growth delay
Anemia
Skin ulcer
Hirsutism
Facial asymmetry
Peripheral axonal neuropathy
Abnormality of the skin
Urticaria
Xanthomatosis
Low posterior hairline
Ptosis
Osteolysis
Abnormality of the skeletal system
Abnormality of the nail
Cognitive impairment
Alopecia
Palmoplantar keratoderma
Visual impairment
Hypertelorism
Diarrhea
Neoplasm
Elevated erythrocyte sedimentation rate
Short nose
Prominent forehead
Reduced bone mineral density
Pruritus
High forehead
Thin skin
Round face
Skeletal muscle atrophy
Aminoaciduria
Lymphedema
Obesity
Thickened skin
Skin rash
Osteopenia
Frontal bossing
Carious teeth
Proptosis
Hepatosplenomegaly
Myalgia
Recurrent infections
Osteoporosis
Vomiting
Bulging epiphyses
Intellectual disability, severe
Malar flattening
Delayed speech and language development
Arachnodactyly
Abnormality of metabolism/homeostasis
Genu valgum
Thrombocytopenia
Elevated hepatic transaminase
Downslanted palpebral fissures
Recurrent respiratory infections
High palate
Enlargement of the ankles
Sparse bone trabeculae
Secondary hyperparathyroidism
Increased serum 1,25-dihydroxyvitamin D3
Deformed rib cage
Bulging of the costochondral junction
Subperiosteal bone resorption
Seizures
Abdominal wall muscle weakness
Generalized hypotonia
Hypoplasia of dental enamel
Recurrent fractures
Delayed eruption of teeth
Irritability
Difficulty walking
Epicanthus
Motor delay
Muscular hypotonia
Abnormal granulocyte morphology
Hypocalcemia
Retrobulbar optic neuritis
Pseudopapilledema
Abnormality of neutrophils
Inflammatory abnormality of the eye
Elevated C-reactive protein level
Delayed closure of the anterior fontanelle
Abnormal thrombocyte morphology
Juvenile rheumatoid arthritis
Uveitis
Bone pain
Elevated alkaline phosphatase
Enlargement of the wrists
Delayed epiphyseal ossification
Widely patent fontanelles and sutures
Fibular bowing
Hypocalcemic seizures
Difficulty standing
Generalized aminoaciduria
Alopecia universalis
Alopecia totalis
Thin bony cortex
Elevated circulating parathyroid hormone level
Premature loss of teeth
Rickets
Asthma
Osteomalacia
Hyperparathyroidism
Tibial bowing
Femoral bowing
Hypophosphatemia
Bowing of the legs
Flat occiput
Metaphyseal irregularity
Protuberant abdomen
Systemic lupus erythematosus
Convex nasal ridge
Lipoatrophy
Peripheral arterial stenosis
Osteolytic defects of the phalanges of the hand
Maternal diabetes
Abnormality of lipid metabolism
Insulin-resistant diabetes mellitus
Short clavicles
Hyperuricemia
Secondary amenorrhea
Glomerulopathy
Cellulitis
Angina pectoris
Reduced subcutaneous adipose tissue
Coronary artery atherosclerosis
Skeletal muscle hypertrophy
Hyperglycemia
Hyperinsulinemia
Lipodystrophy
Polycystic ovaries
Cranial nerve paralysis
Hyperlipidemia
Prominent superficial veins
Decreased HDL cholesterol concentration
Acanthosis nigricans
Increased intraabdominal fat
Labial pseudohypertrophy
Myelin tomacula
Enlarged peripheral nerve
Loss of truncal subcutaneous adipose tissue
Sunken cheeks
Increased facial adipose tissue
Abnormality of complement system
Adipose tissue loss
Osteopoikilosis
Abnormality of skeletal muscle fiber size
Advanced eruption of teeth
Increased adipose tissue around the neck
Eclampsia
Congenital generalized lipodystrophy
Dysmenorrhea
Loss of subcutaneous adipose tissue in limbs
Absence of subcutaneous fat
Generalized lipodystrophy
Abnormality of the menstrual cycle
Acute pancreatitis
Hyperlipoproteinemia
Atherosclerosis
Pancreatitis
Dehydration
Psoriasiform dermatitis
Concave nasal ridge
Chronic lung disease
Hypoplasia of the zygomatic bone
Prolonged neonatal jaundice
Abnormality of the immune system
Abnormality of the hip bone
Petechiae
Increased antibody level in blood
Osteomyelitis
Arthropathy
Abnormality of the middle ear
Abnormality of the fingernails
Recurrent pneumonia
Bilateral single transverse palmar creases
Low anterior hairline
Abnormality of retinal pigmentation
Abnormal lung morphology
Inflammatory abnormality of the skin
Depressed nasal ridge
Cutaneous photosensitivity
Hepatitis
White forelock
Poliosis
Spontaneous abortion
Diabetes mellitus
Insulin resistance
Myocardial infarction
Hypertriglyceridemia
Epidermal acanthosis
Hepatic steatosis
Thin vermilion border
Infertility
Narrow chest
Hypertrophic cardiomyopathy
Pectus excavatum
Facial hirsutism
Dilatation
Congestive heart failure
Myopathy
Cardiomyopathy
Hypertension
Cataract
Short stature
Recurrent cystitis
Diffuse telangiectasia
Crusting erythematous dermatitis
Amyloidosis
Macrocephaly
Abnormal joint morphology
Orthostatic hypotension
Cleft lip
Cleft palate
Microcephaly
Supranuclear ophthalmoplegia
Supranuclear gaze palsy
Impaired smooth pursuit
Abnormality of the musculature
Macule
Ichthyosis
Dysdiadochokinesis
Macular degeneration
Fasciculations
Limb ataxia
Hypohidrosis
Intention tremor
Hypotension
Progressive cerebellar ataxia
Hypotrichosis
Hypogonadotrophic hypogonadism
Ophthalmoplegia
Epidermal thickening
Vertigo
Abnormality of the cerebral white matter
Distal muscle weakness
Abnormality of the eye
Cerebral atrophy
Peripheral neuropathy
Muscle weakness
Honeycomb palmoplantar keratoderma
Ainhum
Mutism
Autoamputation of digits
Abnormality of the spinal cord
Plantar hyperkeratosis
Leukonychia
Amniotic constriction ring
Abnormal toenail morphology
Self-injurious behavior
Palmoplantar hyperkeratosis
Abnormality of movement
Neurological speech impairment
Thick vermilion border
Neoplasm of the skin
Narrow nasal bridge
Hypermelanotic macule
Melanocytic nevus
Deep philtrum
Sarcoma
Melanoma
Hypopigmented skin patches
Open mouth
Periorbital fullness
Nevus
Full cheeks
Broad nasal tip
Everted lower lip vermilion
Abnormality of skin pigmentation
Broad forehead
Long philtrum
Hydrocephalus
Calvarial skull defect
Rhabdomyosarcoma
Abnormal pyramidal sign
Spasticity
Gait ataxia
Constipation
Babinski sign
Hyporeflexia
Cerebellar atrophy
Gait disturbance
Dysarthria
Hyperreflexia
Strabismus
Thick hair
Nystagmus
Ataxia
Nevus spillus
Congenital giant melanocytic nevus
Prominence of the premaxilla
Epidermal nevus
Cutaneous melanoma
Narrow nasal ridge
Distal sensory impairment
Polyneuropathy
Progressive sensorineural hearing impairment
Hallux valgus
Shoulder dislocation
Squared iliac bones
Knee dislocation
Thin eyebrow
Abnormality of the vasculature
Thoracic scoliosis
Atrophic scars
Bilateral ptosis
Bursitis
Redundant skin
Hyperextensible skin
Cutis laxa
Narrow palate
Osteoarthritis
Mitral valve prolapse
Webbed neck
Bruising susceptibility
Ventral hernia
Brachydactyly
Scarring
Migraine
Leukocytosis
Increased intracranial pressure
Purpura
Joint dislocation
Vasculitis
Meningitis
Overgrowth
Premature birth
Lymphadenopathy
Fever
Nausea and vomiting
Arthritis
EEG abnormality
Arthralgia
Skeletal dysplasia
Blindness
Edema
Fatigue
Hip dislocation
Pes planus
Bilateral sensorineural hearing impairment
Progressive distal muscle weakness
Telangiectasia of the oral mucosa
White mater abnormalities in the posterior periventricular region
Distal sensory impairment of all modalities
Increased urinary O-linked sialopeptides
Lip telangiectasia
Angiokeratoma corporis diffusum
Angiokeratoma
Motor polyneuropathy
Flexion contracture
Abnormality of the periventricular white matter
Telangiectasia of the skin
Axonal degeneration
Tinnitus
Opacification of the corneal stroma
Telangiectasia
Thick lower lip vermilion
Cardiomegaly
Pain
Respiratory distress
Macrotia
Abnormality of the gastrointestinal tract
Inguinal hernia
Hernia
Short neck
Cryptorchidism
Progressive flexion contractures
Intractable diarrhea
Abnormal diaphysis morphology
Gingival fibromatosis
Severe failure to thrive
Joint stiffness
Abnormality of the skull
Growth abnormality
Elbow flexion contracture
Cardiac arrest
Abnormality of the hair
Gingival overgrowth
Chronic diarrhea
Abnormality of the face
Increased intramuscular fat
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Downslanted palpebral fissures and Dystonia, related diseases and genetic alterations
Melanoma and Atrial fibrillation, related diseases and genetic alterations
Dysarthria and Blindness, related diseases and genetic alterations
Low-set ears and Prominent nasal bridge, related diseases and genetic alterations
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