Cognitive impairment, and Short distal phalanx of finger

Diseases related with Cognitive impairment and Short distal phalanx of finger

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Short distal phalanx of finger that can help you solving undiagnosed cases.


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Low match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Low match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Low match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE


Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

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Other less relevant matches:

Low match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Low match MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME


Smith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).

MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME Is also known as minds syndrome|macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism|macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|smith-kingsmore syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME

Low match ATYPICAL RETT SYNDROME


Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL RETT SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A


Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH ). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, {188540}) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006).In contrast, pseudopseudohypoparathyroidism (PPHP ) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006).PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.

PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A Is also known as albright hereditary osteodystrophy with multiple hormone resistance|php ia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

Low match CHOROID PLEXUS CARCINOMA


Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.

CHOROID PLEXUS CARCINOMA Is also known as sgs

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOROID PLEXUS CARCINOMA

Top 5 symptoms//phenotypes associated to Cognitive impairment and Short distal phalanx of finger

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Short distal phalanx of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Hypoplasia of the corpus callosum Brachydactyly Depressed nasal bridge Generalized hypotonia Microcephaly Prominent forehead Delayed eruption of teeth Dilatation High forehead Midface retrusion Abnormality of the skeletal system Malar flattening Smooth philtrum Ventriculomegaly Abnormal facial shape Spasticity Confusion Thin upper lip vermilion Anxiety EEG abnormality Wide mouth Long philtrum Atrial septal defect Ventricular septal defect Low-set ears High palate Failure to thrive Upslanted palpebral fissure Growth delay Talipes equinovarus Cryptorchidism Short foot Hypothyroidism Intellectual disability, severe Deeply set eye Abnormality of the dentition Cataract Hypertension Hearing impairment Short neck Hypertelorism Macrocephaly Frontal bossing Osteoporosis

Rare Symptoms - Less than 30% cases


Thrombocytopenia Scoliosis Intellectual disability, mild Alopecia Hydronephrosis Pulmonic stenosis Cutis laxa Asthma Wide nose Congenital hepatic fibrosis Short proximal phalanx of finger Short palm Underdeveloped nasal alae Short phalanx of finger Muscular hypotonia Prominent nasal bridge Camptodactyly of finger Sloping forehead Pulmonary arterial hypertension Aggressive behavior Decreased body weight Wide anterior fontanel Multiple cafe-au-lait spots Obesity Inability to walk Pneumonia Short nose Umbilical hernia Postnatal growth retardation Abnormal heart morphology Hypoglycemia Sparse scalp hair Cafe-au-lait spot Polymicrogyria Accelerated skeletal maturation Arachnoid cyst Hypertonia Shortening of all distal phalanges of the fingers Esodeviation Pulmonary artery stenosis Intrauterine growth retardation Wide nasal bridge Abnormality of cardiovascular system morphology Telangiectasia Renal cyst Syndactyly Hernia Muscular hypotonia of the trunk Ataxia Macrotia Craniosynostosis Nystagmus Wormian bones Skeletal dysplasia Apnea Coarse facial features Abnormality of the fingernails Narrow chest Short toe Abnormality of the kidney Blue sclerae Small face Paralysis Hypoplasia of the maxilla Progressive neurologic deterioration Macroglossia Increased bone mineral density Abnormality of the metacarpal bones Hypospadias Pectus excavatum Autism Growth hormone deficiency Micropenis Anemia Clinodactyly Small nail Depressivity Hepatomegaly Hydrocephalus Prolonged QT interval Delayed speech and language development Kyphosis Toe syndactyly Cirrhosis Cleft upper lip Premature birth Gastrointestinal hemorrhage Leukemia Esotropia Nail dysplasia Tetralogy of Fallot Talipes Ascites Respiratory insufficiency Coarctation of aorta Cutis marmorata Nonprogressive encephalopathy Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Hypocapnia Aplasia/Hypoplasia of the skin Gait apraxia Cortical dysplasia Hypoplastic left heart Supernumerary nipple Portal hypertension Hemiparesis Visual impairment Bicuspid aortic valve Epicanthus Leukopenia Meningitis Aortic valve stenosis Renal insufficiency Pachygyria Encephalocele Split hand Finger syndactyly Polydactyly Visual loss Thoracic dysplasia Aplasia of the middle phalanx of the hand Frontal upsweep of hair Accessory oral frenulum Pyelonephritis Hepatic fibrosis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Short ribs Cholangitis Widely spaced teeth Cone-shaped epiphyses of the phalanges of the hand Exotropia Trigonocephaly Cone-shaped epiphysis Short femoral neck Recurrent lower respiratory tract infections Short thorax Nephronophthisis Scaphocephaly Prominent metopic ridge Abnormal retinal morphology Acute kidney injury Absence of renal corticomedullary differentiation Cleft palate Abnormal cardiac septum morphology Patent ductus arteriosus Sparse hair Osteopenia Cerebellar hypoplasia Rod-cone dystrophy Posteriorly rotated ears Cleft lip Low-set, posteriorly rotated ears Scarring Stage 5 chronic kidney disease Oral cleft Retinal degeneration Recurrent urinary tract infections Abnormality of skin pigmentation Postaxial polydactyly Retinal dystrophy Nephropathy Bifid uvula Microdontia Narrow forehead Cholestasis Renal dysplasia Microphthalmia Central hypotonia Muscle cramps Double outlet right ventricle Cerebral atrophy Diabetes insipidus Tricuspid regurgitation Radioulnar synostosis Scrotal hypoplasia Abnormality of the genital system Hypertrichosis Hypsarrhythmia Postaxial hand polydactyly Sensory impairment Single transverse palmar crease Neurodegeneration Hepatic steatosis Camptodactyly Anteverted nares Opisthotonus Neoplasm Broad 1st metacarpal Hyperostosis frontalis interna Osteoma cutis Pituitary resistance to thyroid hormone Broad distal phalanx of the thumb Choroid plexus calcification Low urinary cyclic AMP response to PTH administration Short fifth metatarsal Short 3rd metacarpal Subcutaneous calcification Abdominal symptom Ectopic ossification Elevated calcitonin Hydroureter Tibial bowing Hypocalcemic tetany Hyperconvex nail Increased density of long bones Aplasia/Hypoplasia of the pubic bone Metopic suture patent to nasal root Primitive neuroectodermal tumor Hypoplasia of first ribs Sacrococcygeal teratoma Facial hemangioma Thickened cortex of long bones Hypoplastic labia minora Ureteral stenosis Embryonal neoplasm Widely patent fontanelles and sutures Hepatoblastoma Abnormality of the nasopharynx Infantile spasms Teratoma Sclerosis of skull base Wide cranial sutures Long clavicles Alacrima Short sternum Bicornuate uterus Short 1st metacarpal Broad ribs Hypoplastic labia majora Choanal stenosis Vocal cord paralysis Shallow orbits Hypoplastic nipples Abnormal platelet function Myoclonic spasms Calvarial skull defect Absent toe Paresthesia Irritability Dyspnea Hypogonadism Hyporeflexia Diarrhea Sensorineural hearing impairment Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Abnormal pulmonary valve morphology Full cheeks Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Abnormality of the antitragus Chest pain Band keratopathy Oligomenorrhea Prolactin deficiency Hypocalcemic seizures Parathyroid hyperplasia Pseudohypoparathyroidism Laryngeal dystonia Constrictive median neuropathy Short 5th metacarpal Tetany Elevated circulating parathyroid hormone level Calcinosis Short 4th metacarpal Hyperphosphatemia Spinal cord compression Exocrine pancreatic insufficiency Round face Congenital hypothyroidism Thickened calvaria Basal ganglia calcification Polyphagia Short finger Short metatarsal Reduced bone mineral density Conjunctivitis Hypocalcemia Hypergonadotropic hypogonadism Subcutaneous nodule Hypoplasia of dental enamel Choreoathetosis Short metacarpal Intermittent hyperventilation Intestinal polyp Respiratory alkalosis Lower limb hypertonia Synophrys Small for gestational age Retrognathia Narrow mouth Diabetes mellitus Severe short stature Delayed skeletal maturation Motor delay Talipes calcaneovarus Small forehead Low frustration tolerance Alopecia areata Small hand Diastema Furrowed tongue Shuffling gait Distal lower limb amyotrophy Facial hypotonia Restlessness Progressive spastic paraplegia Lower limb hyperreflexia Large hands Intellectual disability, progressive Interphalangeal joint contracture of finger Decreased testicular size Thin vermilion border Everted lower lip vermilion High, narrow palate Radial deviation of finger Broad finger Perimembranous ventricular septal defect Abnormality of the rib cage Maternal diabetes Severe failure to thrive Severe intrauterine growth retardation Reduced subcutaneous adipose tissue Truncal obesity Delayed cranial suture closure High pitched voice Agitation Lipodystrophy Highly arched eyebrow Patent foramen ovale Pterygium Acanthosis nigricans Sandal gap Finger clinodactyly Epidermal acanthosis Type II diabetes mellitus Wide intermamillary distance Webbed neck Lymphoma Broad nasal tip Triangular face Tapered finger Falls Prominent scalp veins Abnormality of epiphysis morphology Abnormality of dental morphology Abnormality of the thorax Back pain Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Sleep apnea Osteolysis Narrow palate Abnormality of the nail Bone pain Abnormal vertebral morphology Abnormality of the face Prominent occiput Abnormality of the skin Prominent nose Hypodontia Postural instability Recurrent fractures Carious teeth Hyperlordosis Hepatosplenomegaly Proptosis Brachycephaly Splenomegaly Pain Osteomyelitis Agenesis of permanent teeth Paraplegia Osteolytic defects of the distal phalanges of the hand Poor speech Hypermetropia Spastic paraplegia Protruding ear Intellectual disability, moderate Mandibular prognathia Babinski sign Absent speech Myopia Hyperreflexia Abnormal pelvis bone ossification Persistent open anterior fontanelle Spondylolysis Abnormality of the vertebral column Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Low back pain Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Osteopetrosis Abnormality of the clavicle Rieger anomaly Hypoplastic facial bones Short distal phalanx of the thumb Constipation Autistic behavior Developmental regression Mental deterioration Abnormality of the nervous system Rigidity Kyphoscoliosis Gastroesophageal reflux Gait ataxia Cerebral cortical atrophy Hyperactivity Dementia Clinodactyly of the 5th finger Muscular dystrophy Encephalopathy Dystonia Tremor Skeletal muscle atrophy Progressive macrocephaly Deep plantar creases Perisylvian polymicrogyria Deep palmar crease Breech presentation Preeclampsia Diastasis recti Megalencephaly Attention deficit hyperactivity disorder Abnormality of movement Curly hair Thoracic scoliosis Abnormal muscle tone Prolonged QTc interval Abnormal T-wave Astrocytosis Motor deterioration Developmental stagnation Alkalosis Bruxism Hyperventilation Progressive encephalopathy Loss of speech Overweight Alzheimer disease Thick vermilion border Aplasia/Hypoplasia of the cerebellum Cachexia Cerebral palsy Spastic paraparesis Paraparesis Truncal ataxia Nephrolithiasis Postnatal microcephaly Fine hair Intellectual disability, profound Apraxia Generalized-onset seizure IgA deficiency Large for gestational age Burkitt lymphoma Short thumb Mixed hearing impairment Emphysema Aortic aneurysm Nasal speech Dermal atrophy Deep philtrum Growth abnormality Progressive hearing impairment Spontaneous abortion Leukodystrophy Sinusitis Recurrent otitis media Epiphyseal stippling Cerebral calcification Memory impairment Otitis media Long face Infertility Hypotrichosis Respiratory tract infection Carcinoma Respiratory failure Recurrent respiratory infections Optic atrophy Increased serum insulin-like growth factor 1 Recurrent sinusitis Irregular vertebral endplates Short chin Soft, doughy skin Rhizomelia Open mouth Limb undergrowth Iris coloboma Coloboma Downslanted palpebral fissures Feeding difficulties Cartilaginous ossification of larynx Premature fusion of phalangeal epiphyses Cartilaginous ossification of nose Calcification of the auricular cartilage Costal cartilage calcification Tracheal atresia Chronic sinusitis Calcification of cartilage Arterial calcification Pulmonary artery hypoplasia Obstructive lung disease Abdominal aortic aneurysm Papillary thyroid carcinoma Short nail Peripheral pulmonary artery stenosis Thyroid carcinoma Chronic obstructive pulmonary disease Recurrent bronchitis Short hallux Wide distal femoral metaphysis



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