Delayed speech and language development, and Subcutaneous nodule

Diseases related with Delayed speech and language development and Subcutaneous nodule

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Subcutaneous nodule that can help you solving undiagnosed cases.


Top matches:

Medium match LIPOID PROTEINOSIS OF URBACH AND WIETHE

Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).

LIPOID PROTEINOSIS OF URBACH AND WIETHE Is also known as lipoid proteinosis, urbach-wiethe disease, hyalinosis cutis et mucosae;hyalinosis cutis et mucosae; urbach-wiethe disease

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • High palate


SOURCES: SCTID MESH GARD DOID OMIM NCIT UMLS ORPHANET MONDO

More info about LIPOID PROTEINOSIS OF URBACH AND WIETHE

Medium match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL Is also known as ;haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Failure to thrive


SOURCES: ORPHANET SCTID MESH GARD OMIM UMLS MONDO NCIT

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Medium match BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS Is also known as bannayan-zonana syndrome;bzs, riley-smith syndrome, ruvalcaba-myhre-smith syndrome;rmss, macrocephaly, pseudopapilledema, and multiple hemangiomata, macrocephaly, multiple lipomas, and hemangiomata;brrs; myhre-riley-smith syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID GARD NCIT MONDO SCTID ORPHANET OMIM ICD10

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS

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Other less relevant matches:

Low match TUBEROUS SCLEROSIS 2; TSC2

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 (OMIM ), caused by mutation in the TSC1 gene (OMIM ) on chromosome 9q34.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Motor delay


SOURCES: NCIT MONDO OMIM GARD UMLS

More info about TUBEROUS SCLEROSIS 2; TSC2

Low match CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS

CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS Is also known as ;cagsss

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET UMLS MONDO

More info about CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS

Low match PAGET DISEASE OF BONE 5, JUVENILE-ONSET; PDB5

Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014).For discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

PAGET DISEASE OF BONE 5, JUVENILE-ONSET; PDB5 Is also known as juvenile paget disease;jpd, hyperostosis corticalis deformans juvenilis, hyperphosphatasia, familial idiopathic, hyperphosphatasemia, chronic congenital idiopathic, osteoectasia, familial;familial osteoectasia; hereditary hyperphosphatasia; hyperostosis corticalis deformans juvenilis; jpg; juvenile paget's disease

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM SCTID NCIT MONDO MESH UMLS GARD

More info about PAGET DISEASE OF BONE 5, JUVENILE-ONSET; PDB5

Low match MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscular hypotonia


SOURCES: ORPHANET UMLS

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Low match FARBER LIPOGRANULOMATOSIS; FRBRL

Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by Alves et al., 2013).

FARBER LIPOGRANULOMATOSIS; FRBRL Is also known as farber disease, ceramidase deficiency, acid ceramidase deficiency, ac deficiency, n-laurylsphingosine deacylase deficiency;acid ceramidase deficiency; farber lipogranulomatosis

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: ORPHANET SCTID DOID UMLS MESH GARD MONDO OMIM NCIT

More info about FARBER LIPOGRANULOMATOSIS; FRBRL

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, neuromata, mucosal, with endocrine tumors, wagenmann-froboese syndrome, multiple endocrine neoplasia, type iii, formerly;men3, formerly;men2b; multiple endocrine neoplasia type 3; wagenmann-froboese syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET SCTID OMIM UMLS ICD10

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Low match BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS Is also known as beare-stevenson syndrome, cutis gyrata syndrome of beare and stevenson;beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Ptosis


SOURCES: OMIM ORPHANET NCIT DOID MESH SCTID GARD UMLS MONDO

More info about BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Subcutaneous nodule

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Motor delay Uncommon - Between 30% and 50% cases
Acrania Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Subcutaneous nodule. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm Pain Autosomal recessive inheritance Short stature Autosomal dominant inheritance Nevus Macrocephaly Lipoma Cafe-au-lait spot Abnormality of vision Abnormality of the eye Anteverted nares Atrial septal defect Long philtrum Edema Oxycephaly Milia Muscular hypotonia Retinopathy Scoliosis Visceral angiomatosis Multiple lipomas Ptosis Hamartoma Kyphosis Optic atrophy Fibroma Pica Cerebral calcification Scarring High palate Carcinoma

Rare Symptoms - Less than 30% cases


Myopathy Sensorineural hearing impairment Muscle weakness Cataract Depressed nasal bridge Peripheral neuropathy Hypertelorism Narrow mouth Specific learning disability Generalized hypotonia Achalasia Thick eyebrow Proptosis Abnormal nasolacrimal system morphology Skin tags Astrocytoma Abnormal eyelid morphology Capillary hemangioma Abnormality of the skull Abnormality of the eyelashes Muscle stiffness Nystagmus Periarticular subcutaneous nodules Downslanted palpebral fissures Narrow palate Visual loss Melanocytic nevus Thick vermilion border Thyroid carcinoma Abnormality of the optic nerve Abnormality of retinal pigmentation Underdeveloped supraorbital ridges Severe short stature Acanthosis nigricans Osteoporosis Progressive Hearing impairment Macule Overgrowth Hypertension Lymphedema Lymphoma Wide nose Dolichocephaly Autism Macrotia Pectus excavatum Amblyopia Strabismus Corneal opacity Hoarse voice Abnormality of the skin Abnormality of the face Thick lower lip vermilion Ventriculomegaly Rigidity Thickened skin Acne Spasticity Hydrocephalus Hypertonia Behavioral abnormality Microphthalmia Agenesis of corpus callosum Neurological speech impairment Skeletal dysplasia Papule Abnormality of the genital system Cryptorchidism Hemangioma Mutism Alopecia Recurrent respiratory infections Failure to thrive Hemiparesis Tics Cellulitis Myopia Wide nasal bridge Epicanthus Hypoplasia of the zygomatic bone Elevated serum acid phosphatase Microcephaly Hydroxyprolinemia Venous thrombosis Pleural effusion Anophthalmia Hydroxyprolinuria Macular scar Angioid streaks of the fundus Blindness Hearing abnormality Upslanted palpebral fissure Skin ulcer Sloping forehead Abnormality of the hair Natal tooth Full cheeks Status epilepticus Anteriorly placed anus Limited elbow extension Glaucoma Leukemia Retinal detachment Dry skin Turricephaly Protruding ear Pointed chin Bifid scrotum Retinal dystrophy Subcutaneous neurofibromas Limb pain Multiple skeletal anomalies Redundant neck skin Pneumonia Abnormality of the dentition Thickened helices Cloverleaf skull Craniofacial dysostosis Palmoplantar cutis laxa Prominent umbilicus Cervical spinal canal stenosis Thoracic kyphoscoliosis Respiratory failure Prominent scrotal raphe Prelingual sensorineural hearing impairment Fasting hypoglycemia Palmoplantar cutis gyrata Spinal canal stenosis Progressive sensorineural hearing impairment Spondyloepiphyseal dysplasia Sensorimotor neuropathy Congenital hip dislocation Brachycephaly Pectus carinatum Cranial hyperostosis Premature loss of teeth Rough bone trabeculation Lower limb pain Ankylosis Arnold-Chiari malformation Hyperphosphatemia Choanal stenosis Abnormality of the pancreas Severe sensorineural hearing impairment Barrel-shaped chest Breech presentation Retinal degeneration Abnormality of the clavicle Thickened calvaria Hyperuricemia Hyperostosis Aplasia/Hypoplasia of the earlobes Elevated alkaline phosphatase Increased bone mineral density Bowing of the long bones Recurrent fractures Scaling skin Anemia Retinal dysplasia Malar flattening Goiter Aganglionic megacolon Polyneuropathy Cleft palate High, narrow palate Hyperlordosis Joint laxity Photophobia Midface retrusion Disproportionate tall stature Coarse facial features Constipation Pes cavus Diarrhea Abnormal facial shape Lipogranulomatosis Cherry red spot of the macula Hoarse cry Granulomatosis Failure to thrive in infancy Freckling Juvenile rheumatoid arthritis Ganglioneuroma Elevated urinary epinephrine Schizencephaly Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Elevated calcitonin Neuroma Medullary thyroid carcinoma Lisch nodules Ganglioneuromatosis Abnormality of the thyroid gland Nodular goiter Prominent corneal nerve fibers Colonic diverticula Parathyroid hyperplasia Flushing Pheochromocytoma Neoplasm of the endocrine system Neurofibromas Multiple mucosal neuromas Psychomotor deterioration Histiocytosis Gangrene Splenomegaly Gingival overgrowth Jaundice Abnormality of the nail Arthralgia Arthritis Erythema Respiratory insufficiency Redundant skin Hepatomegaly Joint stiffness Inguinal freckling Reduced number of teeth Melanonychia Chorioretinal dysplasia Panniculitis Erysipelas Chylothorax Leukonychia Abnormal toenail morphology Hepatosplenomegaly Irritability Nonimmune hydrops fetalis Joint swelling Respiratory distress Umbilical hernia Low-set, posteriorly rotated ears Motor deterioration Sensory impairment Craniosynostosis Prominent nasal bridge Palmoplantar keratoderma Choanal atresia Rheumatoid arthritis Nephropathy Epidermal acanthosis Decreased muscle mass Pulmonary fibrosis Laryngomalacia Small nail Decreased liver function Hydrops fetalis Ascites Spontaneous abortion Epiphyseal dysplasia Generalized seizures Bilateral sensorineural hearing impairment Peripheral pulmonary artery stenosis Tricuspid valve prolapse Subcutaneous lipoma Abnormal anterior chamber morphology Abnormal aortic morphology Interrupted aortic arch Aplasia cutis congenita of scalp Porencephalic cyst Bone cyst Subvalvular aortic stenosis Hemihypertrophy Epibulbar dermoid Ectopia pupillae Craniofacial hyperostosis Nevus flammeus Xanthomatosis Dysostosis multiplex Echolalia Sclerocornea Hypoplasia of the iris Eyelid coloboma Alopecia areata Hemiatrophy Arachnoid cyst Skeletal muscle atrophy Hypoglycemia Proximal muscle weakness Abnormal heart morphology Dilatation Delayed skeletal maturation Abnormality of cardiovascular system morphology Intellectual disability, mild Short nose Frontal bossing Micrognathia Subcortical cerebral atrophy Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Somatic mosaicism Glioma Aplasia cutis congenita Joint hyperflexibility Pustule Tongue nodules Abnormality of the gingiva Patchy alopecia Paranoia Abnormal oral mucosa morphology Nasal polyposis Verrucae Microglossia Alopecia of scalp Delusions Bilateral intracranial calcifications Fragile skin Hallucinations Abnormal blistering of the skin Memory impairment Aggressive behavior Hyperkeratosis Absent speech Dystonia Dysphagia White papule Ventricular septal defect Absent septum pellucidum Pulmonary arterial hypertension Cortical dysplasia Aphasia Dysphasia Hemiplegia Lipodystrophy Sacral dimple Osteolysis Aortic valve stenosis Dandy-Walker malformation Intellectual disability, profound Hypoplasia of the corpus callosum Coarctation of aorta Paralysis Tetraplegia Iris coloboma Coloboma Sporadic Hydronephrosis Cerebral cortical atrophy Cerebellar hypoplasia Cerebral atrophy Postnatal growth retardation Joint hypermobility Hip dysplasia Atrioventricular block Shagreen patch Third degree atrioventricular block Wolff-Parkinson-White syndrome Adenoma sebaceum Rhabdomyosarcoma Gingival fibromatosis Infantile spasms Renal cell carcinoma Abnormality of neuronal migration Precocious puberty Optic nerve glioma Sarcoma Bradycardia Renal cyst Attention deficit hyperactivity disorder Anxiety Hypothyroidism Heterogeneous Arrhythmia Coma Ependymoma Angiofibromas Abnormal large intestine morphology Abnormality of the skeletal system Growth hormone deficiency Sensory neuropathy Distal sensory impairment Genu valgum Congenital cataract Hip dislocation Osteopenia Prominent forehead Hyporeflexia Flexion contracture Cardiac rhabdomyoma Subungual fibromas Achromatic retinal patches Subependymal nodules Chordoma Hypomelanotic macule Cortical tubers Ungual fibroma Renal angiomyolipoma Rhabdomyoma Cognitive impairment Neoplasm of the adrenal cortex Juvenile onset Incoordination Hematochezia Scaphocephaly Papilledema Arteriovenous malformation Megalencephaly Multiple cafe-au-lait spots Irregular hyperpigmentation Supernumerary nipple Delayed gross motor development Cerebral hemorrhage Hashimoto thyroiditis Intracranial hemorrhage Cutis marmorata Aortic aneurysm Drooling Cachexia Telangiectasia Exotropia Tall stature Broad thumb Thyroiditis Meningioma Abnormally prominent line of Schwalbe Angiokeratoma Birth length greater than 97th percentile Cutaneous angiolipomas Uterine neoplasm Cutis marmorata telangiectatica congenita Pseudopapilledema Progressive macrocephaly Thick corpus callosum Intussusception Abdominal wall muscle weakness Macrodactyly Angina pectoris Intestinal polyp Lymphangioma Subcutaneous hemorrhage Hamartomatous polyposis Neoplasm of the breast Long penis Venous malformation Intestinal polyposis Cavernous hemangioma Decreased plasma carnitine Preauricular skin furrow



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