Global developmental delay, and Hypotrichosis

Diseases related with Global developmental delay and Hypotrichosis

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

Top matches:

Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.

ATRICHIA WITH PAPULAR LESIONS Is also known as papular atrichia

Related symptoms:

  • Global developmental delay
  • Alopecia
  • Hyperhidrosis
  • Papule
  • Hypotrichosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ATRICHIA WITH PAPULAR LESIONS

Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Medium match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

Other less relevant matches:

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Is also known as hsan iv|hsan4|cip-anhidrosis syndrome|neuropathy, congenital sensory, with anhidrosis|hereditary sensory and autonomic neuropathy type iv|hereditary sensory and autonomic neuropathy iv|familial dysautonomia, type ii|congenital insensitivity to pain-anhidr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

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

Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BIOTINIDASE DEFICIENCY

Medium match SHORT SYNDROME

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Hypotrichosis

Symptoms // Phenotype % cases
Alopecia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypodontia Sensorineural hearing impairment Wide nasal bridge Inflammatory abnormality of the skin Sparse hair Corneal opacity Carious teeth Midface retrusion Nail dysplasia Hyperkeratosis Opacification of the corneal stroma Hyperhidrosis Anhidrosis Generalized hypotonia

Rare Symptoms - Less than 30% cases

Thickened skin Hyperlordosis Brachydactyly Flexion contracture Neurological speech impairment Protruding ear Ichthyosis Mandibular prognathia Hypertelorism Short stature Joint laxity Ectodermal dysplasia Reduced subcutaneous adipose tissue Pili torti Abnormal facial shape Microdontia Pain Micrognathia Malar flattening Recurrent infections Abnormality of dental enamel Intrauterine growth retardation Hip dislocation Nail dystrophy Macrotia Skin ulcer Severe short stature Low-set ears Delayed skeletal maturation Hypertonia Lactic acidosis Lethargy Skin rash Feeding difficulties in infancy Acidosis Weight loss Vomiting Coma Muscular hypotonia Ataxia Myopia Alopecia universalis Sparse and thin eyebrow Sparse eyelashes Papule Metabolic acidosis Irritability Aciduria Keratoconjunctivitis Organic aciduria Perioral eczema Hyperventilation Hyperammonemia Tachypnea Desquamation of skin soon after birth Microcephaly Abnormality of the dentition Eczema Cleft palate Splenomegaly Visual loss Abnormality of the gingiva Abnormality of the nervous system Diarrhea Optic atrophy Abnormal oral mucosa morphology Hidrotic ectodermal dysplasia Palmoplantar hyperhidrosis Ainhum Hepatomegaly Anal fissure Spasticity Autoamputation Skin fissure Abnormal cornea morphology Circumungual hyperkeratosis Foot pain Muscle weakness Agenesis of premolar Plantar hyperkeratosis Neoplasm of the skin Abnormality of the tongue Atlantoaxial dislocation Carcinoma Osteoporosis Hypoplastic iliac body Cervical subluxation Cervical cord compression Broad phalanx J-shaped sella turcica Pruritus Shallow acetabular fossae Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Small epiphyses Hypoplastic ilia Ovoid vertebral bodies Erythema Palmoplantar keratoderma Trichorrhexis nodosa Neoplasm of the lung Amniotic constriction ring Subungual hyperkeratosis Generalized osteoporosis Hypergranulosis Oral leukoplakia Ankylosis Parakeratosis Epidermal acanthosis Curly hair Squamous cell carcinoma Mutism Melanoma Cutis laxa Osteolysis Abnormality of the fingernails Apnea Failure to thrive Developmental regression Increased body weight Hyperglycemia Radial deviation of finger Lipodystrophy Prominent supraorbital ridges Short chin Nephrocalcinosis Congenital hip dislocation Insulin resistance Congenital glaucoma Decreased body weight Abnormality of the face Thin skin Bilateral sensorineural hearing impairment Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Triangular face Glucose intolerance Lipoatrophy Delayed eruption of teeth Excessive wrinkled skin Hypoplastic facial bones Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Abnormality of the mandible Narrow naris Abnormal anterior chamber morphology Dimple chin Abnormality of the immune system Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Insulin-resistant diabetes mellitus Megalocornea Poor appetite Microcornea Downturned corners of mouth Abnormal cerebellum morphology Bronchitis Laryngeal stridor Diffuse cerebellar atrophy Recurrent fungal infections Alcoholism Seborrheic dermatitis Diffuse cerebral atrophy Iris hypopigmentation Basal ganglia calcification Decreased biotinidase activity Infantile spasms Visual field defect Stridor Urticaria Recurrent skin infections Conjunctivitis High myopia Generalized myoclonic seizures Metabolic ketoacidosis Nystagmus Short palm Prominent forehead Joint hypermobility Joint hyperflexibility Small for gestational age Telecanthus Deeply set eye Glaucoma Diabetes mellitus Inguinal hernia Metaphyseal dysplasia Abnormal heart morphology Clinodactyly Depressivity Hernia Frontal bossing Macrocephaly Delayed speech and language development Cataract Thoracic kyphosis Abnormality of the ear Disproportionate short stature Impaired pain sensation Recurrent corneal erosions Lack of skin elasticity Heat intolerance Self-mutilation Aseptic necrosis Episodic fever Bowel incontinence Lichenification Osteomyelitis Keratitis Emotional lability Self-injurious behavior Abnormal autonomic nervous system physiology Febrile seizures Poor wound healing Pain insensitivity Sensory neuropathy Postural hypotension with compensatory tachycardia Proteinuria Dilatation Renal insufficiency Edema Epicanthus Hypertension Decreased number of small peripheral myelinated nerve fibers Corneal scarring Autoamputation of digits Neuropathic arthropathy Acral ulceration Palmar hyperkeratosis Corneal ulceration Abnormality of dental color Hypotrichosis of the scalp Decreased antibody level in blood Hyperactivity Stage 5 chronic kidney disease Respiratory distress Cryptorchidism Scoliosis Congenital lactic acidosis Anorexia Nausea and vomiting Thrombocytopenia Generalized papillary lesions Intellectual disability, severe Abnormality of the sweat gland Hypopigmented streaks Alopecia totalis Milia Rickets Sparse eyebrow Falls Hydrocephalus Microphthalmia Hyporeflexia Plagiocephaly Behavioral abnormality Fever Peripheral neuropathy Hypoplasia of the bladder Abnormality of brain morphology Optic nerve hypoplasia Hemivertebrae Iris coloboma Renal dysplasia Aganglionic megacolon Renal hypoplasia Postaxial hand polydactyly Decreased testicular size Convex nasal ridge Vesicoureteral reflux Prominent nasal bridge Thick vermilion border Short finger Dystrophic toenail Progressive hypotrichosis Abnormality of the philtrum Anteverted ears Cutaneous syndactyly of toes Dystrophic fingernails Sparse lateral eyebrow Bilateral cleft lip and palate Anemia Anodontia Abnormality of the ureter Cutaneous finger syndactyly Abnormality of dental morphology Scaling skin Pterygium Palmoplantar hyperkeratosis Neoplasm Short neck Bilateral single transverse palmar creases Short toe Flared metaphysis Rocker bottom foot Metaphyseal irregularity Metaphyseal widening Elbow flexion contracture Aortic valve stenosis Rhizomelia Respiratory insufficiency Lumbar hyperlordosis Hypotelorism Tetraplegia Platyspondyly Kyphoscoliosis Kyphosis Intellectual disability, mild Scrotal hypoplasia Hypohidrosis Broad nasal tip Freckling Arteriosclerosis Nonimmune hydrops fetalis Hydrocele testis Narrow nose Absent eyelashes Palpebral edema Long nose Oval face Absent eyebrow Glomerulonephritis Pyloric stenosis Chronic kidney disease Hydrops fetalis Lymphedema Telangiectasia Membranoproliferative glomerulonephritis Pulmonary lymphangiectasia Wide intermamillary distance Cleft lip Highly arched eyebrow Oral cleft Cleft upper lip Toe syndactyly Synophrys Finger syndactyly EEG abnormality Choroid plexus calcification Hypogonadism Recurrent respiratory infections Syndactyly Downslanted palpebral fissures Telangiectasia of extensor surfaces Facial telangiectasia in butterfly midface distribution Epidermal hyperkeratosis Abnormality of the zygomatic bone


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