Global developmental delay, and Thin skin
Diseases related with Global developmental delay and Thin skin
In the following list you will find some of the most common rare diseases related to Global developmental delay and Thin skin that can help you solving undiagnosed cases.
Top matches:
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Scoliosis
- Nystagmus
More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED
Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.
SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY Is also known as proc deficiency, autosomal recessive|autosomal recessive thrombophilia due to pc deficiency|autosomal recessive thrombophilia due to congenital protein c deficiency|protein c deficiency, autosomal recessive
Related symptoms:
- Seizures
- Global developmental delay
- Blindness
- Abnormality of skin pigmentation
- Tetraplegia
SOURCES: OMIM ORPHANET MENDELIAN
More info about SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCYHigh match CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3
Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Scoliosis
More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3
Other less relevant matches:
High match KEPPEN-LUBINSKY SYNDROME
Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).
KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Scoliosis
SOURCES: ORPHANET OMIM MENDELIAN
More info about KEPPEN-LUBINSKY SYNDROMEHigh match GERODERMA OSTEODYSPLASTICA
Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
GERODERMA OSTEODYSPLASTICA Is also known as walt disney dwarfism|gerodermia osteodysplastica
Related symptoms:
- Intellectual disability
- Global developmental delay
- Microcephaly
- Scoliosis
- Growth delay
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about GERODERMA OSTEODYSPLASTICAHigh match ABLEPHARON MACROSTOMIA SYNDROME
Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).
Related symptoms:
- Global developmental delay
- Hearing impairment
- Microcephaly
- Growth delay
- Hypertelorism
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about ABLEPHARON MACROSTOMIA SYNDROMEHigh match KNOBLOCH SYNDROME
Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.
KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Nystagmus
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about KNOBLOCH SYNDROMEHigh match ARTERIAL TORTUOSITY SYNDROME
Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.
ARTERIAL TORTUOSITY SYNDROME Is also known as ats
Related symptoms:
- Intellectual disability
- Global developmental delay
- Scoliosis
- Hypertelorism
- Strabismus
More info about ARTERIAL TORTUOSITY SYNDROME
High 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 SYNDROMEHigh match PROLIDASE DEFICIENCY
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 DEFICIENCYTop 5 symptoms//phenotypes associated to Global developmental delay and Thin skin
| Symptoms // Phenotype | % cases |
|---|---|
| Microcephaly | Common - Between 50% and 80% cases |
| Scoliosis | Uncommon - Between 30% and 50% cases |
| Delayed speech and language development | Uncommon - Between 30% and 50% cases |
| Malar flattening | Uncommon - Between 30% and 50% cases |
| Micrognathia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms
Patients with Global developmental delay and Thin skin. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Intellectual disability Hypertelorism Joint hyperflexibility Myopia Hip dislocation Hernia Growth delay Premature skin wrinkling Depressed nasal bridge Prominent forehead Dry skin Strabismus Muscular hypotonia Cataract Cutis laxa Low-set ears Macrocephaly Talipes equinovarus Inguinal hernia Short nose Underdeveloped nasal alae Abnormal facial shape Visual impairment Dental malocclusion Microdontia Redundant skin Generalized hypotonia Seizures Hearing impairment Corneal opacity NystagmusRare Symptoms - Less than 30% cases
Intellectual disability, severe High palate Ectodermal dysplasia Arachnodactyly Proptosis Failure to thrive Dyspnea Excessive wrinkled skin Syndactyly Reduced subcutaneous adipose tissue Hypoplasia of the zygomatic bone Shallow orbits Recurrent pneumonia Deeply set eye Prematurely aged appearance Hyperextensible skin Abnormality of the outer ear Congenital hip dislocation Hypoplasia of the maxilla Microcornea Feeding difficulties Camptodactyly Joint laxity Abnormality of the zygomatic bone Increased susceptibility to fractures Severe short stature Motor delay Intellectual disability, mild Abnormality of the immune system Narrow naris Dimple chin Progeroid facial appearance Short chin Lipodystrophy Macrotia Flexion contracture Alopecia Abnormal heart morphology Pyloric stenosis Sparse hair Intrauterine growth retardation Frontal bossing Abnormality of skin pigmentation Blindness Osteopenia Aplasia/Hypoplasia of the skin Postnatal growth retardation Midface retrusion Glaucoma Wormian bones Triangular face Congenital cataract Median cleft lip and palate Band keratopathy Wide nasal bridge Brachydactyly Sensorineural hearing impairment Keratoglobus Long palm Abnormal carotid artery morphology Short stature Lymphangioma Cerebellar malformation Phthisis bulbi Abnormal vitreous humor morphology Lens luxation Respiratory failure Macular hypoplasia Meningocele Occipital encephalocele Weight loss Diabetes mellitus Absent septum pellucidum Aplasia cutis congenita Delayed skeletal maturation Acute lymphoblastic leukemia Clinodactyly Abnormality of the dentition Depressivity Vitreoretinopathy Calvarial skull defect Large forehead Femoral hernia Aplasia cutis congenita of scalp Total anomalous pulmonary venous return Anomalous pulmonary venous return Esophagitis Arterial stenosis Respiratory distress Cardiac arrest Myocardial infarction Short palpebral fissure Specific learning disability Fatigue Hip dysplasia Long face Congestive heart failure Coxa vara Dilated cardiomyopathy Small for gestational age Blepharophimosis Dilatation Craniosynostosis Hypertrophic cardiomyopathy Gastroesophageal reflux Coxa valga Aortic aneurysm Avascular necrosis of the capital femoral epiphysis Cardiorespiratory arrest Abnormal myocardium morphology Exudative retinal detachment Myocarditis Clinodactyly of the 5th finger Peripapillary atrophy Aortic dissection Occipital meningocele Hiatus hernia Rocker bottom foot Bifid ureter Cephalocele Pulmonary artery stenosis Aortic root aneurysm Hypertension Keratoconus Telangiectasia of the skin Telecanthus Lipoatrophy Neurological speech impairment Asthma Abnormal lung morphology Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Low posterior hairline Hepatitis Dehydration Convex nasal ridge Palmoplantar keratoderma Lymphedema Hirsutism Genu valgum Carious teeth Pruritus Papule Skin rash Erythema Elevated hepatic transaminase Hepatosplenomegaly Abnormality of retinal pigmentation Skin ulcer Hyperkeratosis Abnormality of the hip bone Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Prolonged neonatal jaundice Elevated erythrocyte sedimentation rate Low anterior hairline Petechiae Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Abnormality of the fingernails Generalized hirsutism Bilateral single transverse palmar creases High forehead Recurrent respiratory infections Hypotrichosis Increased body weight Congenital glaucoma Glucose intolerance Hyperglycemia Radial deviation of finger Prominent supraorbital ridges Opacification of the corneal stroma Abnormality of dental enamel Nephrocalcinosis Insulin resistance Poor appetite Decreased body weight Abnormality of the face Bilateral sensorineural hearing impairment Abnormality of the skin Hypodontia Delayed eruption of teeth Downturned corners of mouth Short palm Joint hypermobility Cortical dysplasia Megalocornea Obesity Ptosis Thrombocytopenia Abnormality of metabolism/homeostasis Recurrent infections Splenomegaly Diarrhea Vomiting Downslanted palpebral fissures Hepatomegaly Anemia Hypoplastic facial bones Insulin-resistant diabetes mellitus Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Abnormality of the mandible Abnormal anterior chamber morphology Abnormal pupil morphology Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Chorioretinal atrophy Overbite Dextrocardia Decreased testicular size Opisthotonus Mask-like facies Tented upper lip vermilion Spastic tetraparesis Gingival overgrowth Open mouth Intellectual disability, profound Febrile seizures Self-mutilation High, narrow palate Abnormality of eye movement Severe global developmental delay Short philtrum Polyhydramnios Hypertonia Respiratory insufficiency Hyperreflexia Narrow nasal bridge Abnormally large globe Small foramen magnum Osteoporosis Talipes Platyspondyly Pectus carinatum Abnormality of the eye EEG abnormality Pes planus Kyphoscoliosis Mandibular prognathia Abnormality of the forehead Upper airway obstruction Narrow nasal tip Tented philtrum Loss of facial adipose tissue Congenital generalized lipodystrophy Absence of subcutaneous fat Generalized lipodystrophy Prominent nasal tip Narrow nasal ridge Spasticity Dermal translucency Abnormal form of the vertebral bodies Purpura Abnormality of the cerebral vasculature Hypercoagulability Deep venous thrombosis Gangrene Pulmonary embolism Spastic diplegia Venous thrombosis Cerebral palsy Spastic tetraplegia Venous insufficiency Tetraplegia Premature loss of primary teeth Fragile nails Widely spaced teeth Broad thumb Sparse scalp hair Prominent nasal bridge Abnormal cardiac septum morphology Peritonitis Vitreous hemorrhage Calcaneovalgus deformity Broad forehead Spinal canal stenosis Delayed cranial suture closure Brisk reflexes Unilateral renal agenesis Adducted thumb Aortic regurgitation Spontaneous abortion Oligohydramnios Autistic behavior Disseminated intravascular coagulation Protruding ear Autism Warfarin-induced skin necrosis Priapism Reduced protein C activity Superficial thrombophlebitis Recurrent deep vein thrombosis Multifocal seizures Recurrent fractures Bowing of the long bones Ectopia lentis Microtia, third degree Hydrocephalus Ventriculomegaly Epicanthus Ataxia Long uvula Ventral hernia Absent hair Ablepharon Cerebral atrophy Cryptophthalmos Abnormality of female external genitalia Short upper lip Abnormal nasal morphology Breast hypoplasia Absent nipple Aplasia/Hypoplasia of the nipples High-frequency hearing impairment Cerebellar atrophy Visual loss Conical tooth Progressive visual loss Corneal dystrophy Macular degeneration Horizontal nystagmus Narrow face Abnormality of the hair Pachygyria Encephalocele High myopia Vesicoureteral reflux Patent ductus arteriosus Retinal detachment Bulbous nose Polymicrogyria Retinal degeneration Leukemia Nyctalopia Mental deterioration Retrognathia Labial hypoplasia Abnormal hair pattern Abnormality of epiphysis morphology Biconcave vertebral bodies Camptodactyly of finger Wide mouth Abnormality of the pinna Umbilical hernia Anteverted nares Stooped posture Pseudoepiphyses Abnormal bone ossification Hyperextensibility of the finger joints Finger syndactyly Vertebral compression fractures Beaking of vertebral bodies Periodontitis Irregular vertebral endplates Protuberant abdomen Tibial bowing Femoral bowing Abnormality of vision Microtia Toe syndactyly Corneal erosion Sacral dimple Abnormality of finger Abnormality of the mouth Absent eyelashes Hypoplastic nipples Absent eyebrow Ectropion Sparse eyebrow Atresia of the external auditory canal Cutaneous syndactyly Thin vermilion border Abnormality of the genital system Omphalocele Hypertrichosis Fine hair Interphalangeal joint contracture of finger Hypoplasia of penis Ambiguous genitalia Short metacarpal Recurrent cystitisIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Leukodystrophy, related diseases and genetic alterations Neuroblastoma and Joint hypermobility, related diseases and genetic alterations Skeletal muscle atrophy and Umbilical hernia, related diseases and genetic alterations High palate and Coarctation of aorta, related diseases and genetic alterations Breast carcinoma and Brain atrophy, related diseases and genetic alterations Anemia and Stomach cancer, related diseases and genetic alterations