Abnormal facial shape, and Subcutaneous nodule

Diseases related with Abnormal facial shape and Subcutaneous nodule

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


Top matches:

Low match WINCHESTER SYNDROME; WNCHRS


Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about WINCHESTER SYNDROME; WNCHRS

Low match LARGE CONGENITAL MELANOCYTIC NEVUS


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

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


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

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Other less relevant matches:

Low match JUVENILE HYALINE FIBROMATOSIS


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

Low match INFANTILE SYSTEMIC HYALINOSIS


Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Low match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B


Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Low match MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR


Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Low match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Low match TOWNES-BROCKS SYNDROME


Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

TOWNES-BROCKS SYNDROME Is also known as renal-ear-anal-radial syndrome|tbs|rear syndrome|townes syndrome|imperforate anus with hand, foot and ear anomalies|sensorineural deafness with imperforate anus and hypoplastic thumbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about TOWNES-BROCKS SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Subcutaneous nodule

Symptoms // Phenotype % cases
Coarse facial features Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Thickened skin Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Scoliosis Failure to thrive Thick vermilion border Gingival overgrowth Osteoporosis Severe short stature Skin ulcer Depressed nasal bridge Intellectual disability, mild Global developmental delay Generalized hypotonia Corneal opacity Ptosis Intellectual disability Papule Sensorineural hearing impairment Osteopenia Flexion contracture Neoplasm Hypertelorism Osteolysis Cataract Lymphedema Thick lower lip vermilion

Rare Symptoms - Less than 30% cases


Brachydactyly Short neck Growth delay Abnormality of the gastrointestinal tract Wide nasal bridge Microphthalmia Abnormal pulmonary valve morphology Chronic diarrhea Abnormality of the face Joint stiffness Diarrhea Pain Telangiectasia of the skin Spina bifida occulta Proptosis Micrognathia Cryptorchidism Mandibular prognathia Neonatal hypotonia Specific learning disability Freckling Cafe-au-lait spot Constipation Visual loss Pectus excavatum Abnormality of cardiovascular system morphology Kyphosis Abnormality of the ear Hypospadias Bilateral sensorineural hearing impairment Delayed puberty Pes planus Tetralogy of Fallot Hypothyroidism Brachycephaly Pes cavus Abnormality of the kidney Atrial septal defect Polyneuropathy Generalized osteoporosis Long philtrum Broad nasal tip Full cheeks Cognitive impairment Hyperkeratosis Hypermelanotic macule Melanocytic nevus Dry skin Deep philtrum Melanoma Narrow nasal bridge Arthritis Prominent forehead Arthropathy Nevus Epibulbar dermoid Underdeveloped supraorbital ridges Cellulitis Chorioretinal atrophy Cortical gyral simplification Low-set ears Gangrene Toe clinodactyly Agitation Flat occiput Anophthalmia Partial duplication of thumb phalanx Crossed fused renal ectopia Abnormal eyelash morphology Panniculitis Erysipelas Myopic astigmatism Abnormal nasolacrimal system morphology Retinal thinning Prominent nasal tip Congenital microcephaly Exudative vitreoretinopathy Chorioretinal dysplasia Retinal fold Chorioretinal lacunae Scaling skin Chylothorax Leukonychia Melanonychia Retinal dysplasia Abnormal toenail morphology Vitreoretinopathy Venous thrombosis Patent foramen ovale Macrotia Attention deficit hyperactivity disorder Retinopathy Protruding ear Aggressive behavior Abnormality of the tragus Rigidity Thin upper lip vermilion Reduced visual acuity Hypermetropia Glaucoma Hyperactivity Upslanted palpebral fissure Rectoperineal fistula Hypertonia Blindness Intellectual disability, severe Edema Leukemia Astigmatism Bilateral ptosis Sloping forehead Optic nerve hypoplasia Dilatation Pointed chin Muscle stiffness Abnormality of retinal pigmentation Amblyopia Status epilepticus Absent toe Pigmentary retinopathy Wide nose Overgrowth Bifid uterus Urethral valve Lymphoma Microcornea Sleep disturbance Retinal detachment Retinal dystrophy Intrauterine growth retardation Delayed skeletal maturation Abnormal vagina morphology Excessive wrinkled skin Spina bifida Cranial nerve paralysis Arnold-Chiari malformation Abnormality of vision Overfolded helix Abnormal endocardium morphology Multiple lentigines Abnormality of the pulmonary artery Preauricular skin tag Abnormal localization of kidney Abnormal aortic valve morphology Chorioretinal coloboma Shield chest Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Redundant neck skin Triphalangeal thumb Hypoplasia of the ovary Numerous nevi Wolff-Parkinson-White syndrome Abnormality of the foot Renal hypoplasia Hypoplasia of penis Broad thumb Vesicoureteral reflux Iris coloboma Anal atresia Facial asymmetry Abnormal vertebral morphology Toe syndactyly Strabismus Microtia Abnormal cardiac septum morphology Blepharophimosis Wide mouth Agenesis of corpus callosum Clinodactyly of the 5th finger Patent ductus arteriosus Renal insufficiency Cupped ear Bifid scrotum Abnormality of the uterus Broad hallux phalanx Myocardial infarction External ear malformation Mitral valve prolapse Multiple renal cysts Webbed neck Triangular face Joint hyperflexibility Pulmonic stenosis Ulnar deviation of finger Pectus carinatum Lower limb asymmetry Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Posteriorly rotated ears Abnormality of the ribs Arrhythmia Rectovaginal fistula Abnormality of the genital system Anteriorly placed anus Right ventricular hypertrophy Decreased fertility Preaxial hand polydactyly Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Curly hair Neuroblastoma Hypoplasia of the corpus callosum Atrioventricular canal defect External genital hypoplasia Bowel incontinence Bundle branch block Bilateral cryptorchidism Abnormality of the voice Myelodysplasia Hyperextensible skin Ectopic kidney Scapular winging Left ventricular hypertrophy Multiple cafe-au-lait spots Failure to thrive in infancy Anteverted nares Abnormality of the hair Abnormal diaphysis morphology Gingival fibromatosis Severe failure to thrive Abnormality of the skull Aplasia/Hypoplasia of the skin Growth abnormality Elbow flexion contracture Cardiac arrest Recurrent infections Progressive flexion contractures Respiratory distress Skeletal muscle atrophy 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 Intractable diarrhea Feeding difficulties Progressive distal muscle weakness Increased susceptibility to fractures Gait disturbance Aplasia/Hypoplasia of the thymus Abnormality of the adrenal glands Osteomalacia Abnormality of the musculature Steatorrhea Abnormality of dental morphology Urticaria Polycystic ovaries Macrocephaly Recurrent bacterial infections Hyperpigmentation of the skin Recurrent fractures Short palm Micromelia Malabsorption Camptodactyly of finger Immunodeficiency Angiokeratoma Motor polyneuropathy Diabetes mellitus Round face Rhabdomyosarcoma Periorbital fullness Calvarial skull defect Sarcoma Hypopigmented skin patches Neoplasm of the skin Generalized hirsutism Open mouth Everted lower lip vermilion Narrow nasal ridge Abnormality of skin pigmentation Pruritus Broad forehead Short nose Hydrocephalus Osteolysis involving bones of the upper limbs Osteolysis involving bones of the feet Rheumatoid arthritis Thick hair Cutaneous melanoma Abnormality of the periventricular white matter Peripheral axonal neuropathy Axonal degeneration Tinnitus Opacification of the corneal stroma Aminoaciduria Telangiectasia Cardiomegaly Distal sensory impairment Vertigo Abnormality of the cerebral white matter Epidermal nevus Distal muscle weakness Abnormality of the eye Cerebral atrophy Peripheral neuropathy Muscle weakness Nevus spillus Congenital giant melanocytic nevus Prominence of the premaxilla Frontal bossing Kyphoscoliosis Downslanted palpebral fissures Acne Parathyroid hyperplasia Pheochromocytoma Thyroid carcinoma Achalasia Neoplasm of the endocrine system Flushing Neurofibromas Disproportionate tall stature Goiter Medullary thyroid carcinoma Aganglionic megacolon Hemiparesis Abnormality of the skin High, narrow palate Thick eyebrow Hyperlordosis Joint laxity Carcinoma Lisch nodules Colonic diverticula Myopathy Prominent corneal nerve fibers Optic atrophy Myopia Epicanthus Spasticity Nystagmus Microcephaly Multiple mucosal neuromas Ganglioneuromatosis Inguinal freckling Ganglioneuroma Elevated urinary epinephrine Subcutaneous neurofibromas Neuroma Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Nodular goiter Elevated calcitonin Schizencephaly Photophobia Abnormality of the skeletal system Arthralgia Knee flexion contracture Vertebral compression fractures Antinuclear antibody positivity Ankylosis Ankle contracture Hip contracture Abnormality of the thyroid gland Abnormality of the thorax Metaphyseal widening Decreased body weight Wrist flexion contracture Split hand Hypertrichosis Interphalangeal joint contracture of finger Hypoplasia of the maxilla Delayed eruption of teeth Small hand Hirsutism Bulbous nose Delayed closure of the anterior fontanelle Generalized hypertrichosis High palate Thin metacarpal cortices Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Carpal osteolysis Camptodactyly of toe Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Aplasia/Hypoplasia of the 3rd toe



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