Global developmental delay, and Epidermal acanthosis

Diseases related with Global developmental delay and Epidermal acanthosis

In the following list you will find some of the most common rare diseases related to Global developmental delay and Epidermal acanthosis that can help you solving undiagnosed cases.

Top matches:

High match NEVUS, EPIDERMAL

Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994).A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, {113800}), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994).Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015).Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012).Also see giant pigmented hairy nevus (OMIM ) and malignant melanoma (OMIM ).

NEVUS, EPIDERMAL Is also known as nevus, keratinocytic, nonepidermolytic

Related symptoms:

  • Global developmental delay
  • Hyperkeratosis
  • Palmoplantar keratoderma
  • Nevus
  • Epidermal acanthosis


SOURCES: OMIM MENDELIAN

More info about NEVUS, EPIDERMAL

NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES

Other less relevant matches:

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

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.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Medium match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Top 5 symptoms//phenotypes associated to Global developmental delay and Epidermal acanthosis

Symptoms // Phenotype % cases
Acanthosis nigricans Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Epidermal acanthosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus Growth delay Delayed skeletal maturation Flexion contracture Depressed nasal bridge Failure to thrive Severe short stature Frontal bossing Osteoporosis Congestive heart failure Abnormality of the skeletal system Midface retrusion Ventriculomegaly Craniosynostosis Redundant skin Proptosis Cloverleaf skull Hypertriglyceridemia Ptosis Respiratory distress Hypertension Bradycardia Generalized hypotonia Lipodystrophy Microcephaly Hyperinsulinemia Insulin resistance Hirsutism Sensorineural hearing impairment Palmoplantar keratoderma

Rare Symptoms - Less than 30% cases

Abnormality of upper lip Joint stiffness Pancreatitis Myalgia Atherosclerosis Hyperlordosis Precocious puberty Accelerated skeletal maturation Respiratory insufficiency Palpitations Brachydactyly Macrocephaly Hepatic steatosis Muscle stiffness Prominent umbilicus Growth hormone deficiency Ventricular hypertrophy Atrial fibrillation Mandibular prognathia Hypoplasia of the corpus callosum Brachycephaly Arrhythmia Short stature Scoliosis Muscle weakness Hepatomegaly Megalencephaly Myopathy Femoral bowing Splenomegaly High palate Wide anterior fontanel Recurrent infections Pulmonary arterial hypertension Protuberant abdomen Diabetes mellitus Hyperkeratosis Osteopenia Micromelia Platyspondyly Dysphagia Skeletal dysplasia Elevated hepatic transaminase Respiratory failure Kyphosis Feeding difficulties Optic atrophy Oxycephaly High, narrow palate Hypoglycemia Loss of subcutaneous adipose tissue in limbs Downslanted palpebral fissures Exercise-induced myalgia Abnormality of the dentition Hypertelorism Hypothyroidism Prolonged QTc interval Atlantoaxial dislocation Dysmenorrhea Abnormal levels of creatine kinase in blood Curly hair Congenital generalized lipodystrophy Recurrent bacterial infections Abnormality of skeletal muscle fiber size Cryptorchidism Polycystic ovaries Peripheral neuropathy Ichthyosis Immunodeficiency Craniofacial dysostosis Hyperhidrosis Generalized lipodystrophy Prominent superficial veins Anteverted nares Progressive proximal muscle weakness IgA deficiency Secondary amenorrhea Thickened skin Lipoatrophy Spinal rigidity Melanocytic nevus Pyloric stenosis Skeletal muscle hypertrophy Prominent supraorbital ridges Melanoma Malar flattening Short palm Short foot Abnormality of the face Choanal atresia Abnormal cardiac septum morphology Autistic behavior Hypopigmentation of the skin Subcutaneous nodule Tracheoesophageal fistula Dental malocclusion Radial deviation of finger Cone-shaped epiphysis Small nail Overgrowth Low anterior hairline Trigonocephaly Febrile seizures Dolichocephaly Increased intracranial pressure Prominent nasal bridge Hypopigmented skin patches Bilateral sensorineural hearing impairment Plagiocephaly Abnormality of the eye Thickened helices Clinodactyly Apnea Choanal stenosis Low-set ears Preauricular skin furrow Palmoplantar cutis gyrata Abnormality of the skull Skin tags Hypoplasia of the zygomatic bone Prominent scrotal raphe Hearing abnormality Breech presentation Abnormality of the pancreas Palmoplantar cutis laxa Aplasia/Hypoplasia of the earlobes Short middle phalanx of finger Redundant neck skin Cognitive impairment Hyperreflexia Gingival overgrowth Reduced number of teeth Anxiety Abnormality of the nail Narrow palate Prominent forehead Arnold-Chiari malformation Abnormality of vision Syndactyly Turricephaly Bifid scrotum Ventricular septal defect Limited elbow extension Natal tooth Anteriorly placed anus Underdeveloped supraorbital ridges Visceral angiomatosis Elevated serum creatine phosphokinase Broad hallux Prolonged QT interval Generalized muscle hypertrophy Atlantoaxial instability Polymorphic ventricular tachycardia Fasting hyperinsulinemia Ileus Supraventricular tachycardia Reduced subcutaneous adipose tissue Mildly elevated creatine phosphokinase Muscle mounding Increased variability in muscle fiber diameter Cutis marmorata Ventricular fibrillation Failure to thrive in infancy Ventricular arrhythmia Reduced bone mineral density Delayed gross motor development Ventricular tachycardia Cervical spine instability Adipose tissue loss Exercise intolerance Abnormality of the hair Arterial stenosis Bone cyst Broad foot Oligomenorrhea Growth hormone excess Glomerulopathy Large hands Generalized hirsutism Myocardial infarction Cardiomyopathy Recurrent fractures Nephropathy Hepatic failure Cirrhosis Abnormality of skin pigmentation Abnormality of the foot Hypertrophic cardiomyopathy Renal insufficiency Hyperlipidemia Pointed chin Hypermelanotic macule Abnormality of the head Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Parietal foramina Lambdoidal craniosynostosis Anterior plagiocephaly Low-frequency sensorineural hearing impairment Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Esophageal atresia Hypopigmentation of hair Tarsal synostosis Unicoronal synostosis Thimble-shaped middle phalanges of hand Sparse and thin eyebrow Protruding ear Long eyelashes Thin skin Sudden cardiac death Generalized muscle weakness Tachycardia Spastic paraplegia Muscular dystrophy Distal muscle weakness Postnatal growth retardation Talipes equinovarus Proximal muscle weakness Neonatal hypotonia Rigidity Hepatosplenomegaly Constipation Umbilical hernia Dilatation Vomiting Low-set, posteriorly rotated ears Flat face Macrotia Parakeratosis Trichorrhexis nodosa Amniotic constriction ring Subungual hyperkeratosis Generalized osteoporosis Hypergranulosis Pili torti Oral leukoplakia Ankylosis Neoplasm of the lung Squamous cell carcinoma Alopecia universalis Anhidrosis Mutism Cutis laxa Neoplasm of the skin Osteolysis Opacification of the corneal stroma Abnormality of the fingernails Skin ulcer Inflammatory abnormality of the skin Abnormality of the tongue Abnormal cornea morphology Ectodermal dysplasia Anal fissure Rhizomelia Lumbar hyperlordosis High myopia Generalized-onset seizure Otitis media Brain atrophy Severe global developmental delay Gastroesophageal reflux Intellectual disability, severe Skin fissure Plantar hyperkeratosis Circumungual hyperkeratosis Agenesis of premolar Ainhum Foot pain Autoamputation Hidrotic ectodermal dysplasia Palmoplantar hyperhidrosis Abnormality of the gingiva Abnormal oral mucosa morphology Nail dysplasia Hypodontia Sleep apnea Edema Focal-onset seizure Stage 5 chronic kidney disease Retinopathy Developmental regression Mental deterioration Abnormality of the nervous system Proteinuria Micropenis Hypogonadism Ataxia Lymphopenia Congenital giant melanocytic nevus Epidermal thickening Nevus sebaceous Numerous nevi Epidermal nevus Congenital bullous ichthyosiform erythroderma Woolly hair Hamartoma Nevus Nephrotic syndrome Hypocalcemia Carious teeth Alopecia Hypotrichosis Nail dystrophy Pruritus Papule Corneal opacity Sparse hair Erythema Joint laxity Carcinoma Pain Hypoalbuminemia Absent testis Congenital nephrotic syndrome Steroid-resistant nephrotic syndrome Diffuse mesangial sclerosis Primary hypothyroidism Primary adrenal insufficiency Adrenal insufficiency Focal segmental glomerulosclerosis Focal impaired awareness seizure Glomerulosclerosis Exotropia Thoracic hypoplasia Narrow mouth Patent ductus arteriosus Abnormality of the metaphysis Split hand Intellectual disability, profound Decreased fetal movement Limb undergrowth Polymicrogyria Narrow chest Abnormality of the kidney Polyhydramnios Atrial septal defect Heterotopia Muscular hypotonia Onychauxis Postprandial hyperglycemia Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Bowing of the long bones Short ribs Long penis Increased nuchal translucency Agenesis of corpus callosum Cleft palate Wide-cupped costochondral junctions Small abnormally formed scapulae Small foramen magnum Lethal short-limbed short stature Short sacroiliac notch Severe platyspondyly Severe short-limb dwarfism Excessive wrinkled skin Short long bone Lethal skeletal dysplasia Small face Hypoplastic ilia Short femur Aplasia/Hypoplasia of the lungs Flared metaphysis Abnormality of neuronal migration Metaphyseal irregularity Radioulnar synostosis Disproportionate short-limb short stature Advanced eruption of teeth Fasting hypoglycemia Mesomelia Abnormal facial shape Blepharophimosis Wide mouth Telecanthus Coarse facial features Retrognathia Dyspnea Upslanted palpebral fissure Myopia Epicanthus Micrognathia Small for gestational age Neoplasm Nystagmus Enlarged cerebellum Aplasia/Hypoplasia of the mandible Fibular bowing Metaphyseal chondrodysplasia Central apnea Abnormality of the clavicle Tibial bowing Short philtrum Smooth philtrum Thick nail Narrow face Abnormality of the optic nerve Long foot Ketoacidosis Insulin-resistant diabetes mellitus Ovarian neoplasm Flat occiput Absent eyebrow Hyperglycemia Clitoral hypertrophy Preauricular skin tag Arachnodactyly Hypertrichosis Short palpebral fissure Microdontia Specific learning disability Sepsis Abdominal distention Microcornea Thin vermilion border Long face Dry skin Abnormal oral cavity morphology


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