Macrocephaly, and Interphalangeal joint contracture of finger

Diseases related with Macrocephaly and Interphalangeal joint contracture of finger

In the following list you will find some of the most common rare diseases related to Macrocephaly and Interphalangeal joint contracture of finger that can help you solving undiagnosed cases.

Top matches:

Low match MASA SYNDROME

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Low match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Other less relevant matches:

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

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

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

DESBUQUOIS SYNDROME Is also known as desbuquois dysplasia|dbqd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about DESBUQUOIS SYNDROME

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Top 5 symptoms//phenotypes associated to Macrocephaly and Interphalangeal joint contracture of finger

Symptoms // Phenotype % cases
Camptodactyly of finger Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Interphalangeal joint contracture of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Pectus excavatum Long philtrum Seizures Severe short stature Short neck Brachydactyly Micrognathia Cryptorchidism Strabismus Glaucoma Hip dislocation Spasticity Cognitive impairment Delayed speech and language development Short palm Muscular hypotonia Growth delay Broad thumb Joint hyperflexibility Finger syndactyly Low-set, posteriorly rotated ears Broad foot Inguinal hernia Intrauterine growth retardation Atrial septal defect Hemivertebrae Microcephaly Clinodactyly of the 5th finger Cleft palate Talipes equinovarus Anteverted nares Agenesis of corpus callosum Pes cavus Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Accelerated skeletal maturation Elbow dislocation Abnormality of the metaphysis Macrotia Coxa vara Hypoplasia of penis Round face Broad forehead Deep philtrum Retrognathia Abnormality of cardiovascular system morphology Coxa valga Respiratory distress Hypoplasia of the maxilla Prominent forehead Respiratory insufficiency Low-set ears Abnormality of the voice Flexion contracture High palate Frontal bossing Ventricular septal defect Dilatation Umbilical hernia Brachycephaly Large hands Autism Abnormal form of the vertebral bodies Thin upper lip vermilion Aggressive behavior Joint laxity Optic atrophy Protruding ear Hypospadias Prominent nasal bridge Short philtrum Downslanted palpebral fissures Hypertelorism Feeding difficulties Micromelia Kyphosis Joint stiffness Hyperlordosis Spastic paraplegia Abnormal facial shape Myopia Intellectual disability, severe Intellectual disability, mild Clinodactyly Upslanted palpebral fissure Shuffling gait Aplasia/Hypoplasia of the corpus callosum Hypermetropia Paraplegia High, narrow palate Low frustration tolerance Babinski sign Ventriculomegaly Blue sclerae Hyperreflexia Pectus carinatum Proptosis Gait disturbance Urticaria Hydrocephalus Gingival overgrowth Onychogryposis of fingernail Clitoral hypoplasia Narrow chest Euryblepharon Femoral hernia Fingernail dysplasia Epispadias Hypotrichosis Median cleft lip and palate Postnatal growth retardation Lower limb hyperreflexia Pes planus Obesity Abnormality of the gingiva Abnormality of the penis Hypoplastic labia minora Progressive spastic paraplegia Curly eyelashes Naevus flammeus of the eyelid Ridged fingernail Diastema Multiple cafe-au-lait spots Oligodontia Specific learning disability Long eyelashes Hip dysplasia Hypodontia Downturned corners of mouth Wide nose Posteriorly rotated ears Alopecia Midface retrusion Short nose Wide nasal bridge Epicanthus Ptosis Sacral dimple Open bite Restlessness Anodontia Avascular necrosis of the capital femoral epiphysis Bifid tongue Facial hypotonia Distal lower limb amyotrophy Hypoplastic labia majora Furrowed tongue Alopecia areata Hearing impairment Lower limb hypertonia Capillary hemangioma Increased number of teeth Small forehead Long palpebral fissure Talipes calcaneovarus Synophrys Knee dislocation Flat face Congenital hip dislocation Mask-like facies Hypoplasia of the brainstem Congenital muscular dystrophy Plagiocephaly Lissencephaly Holoprosencephaly Knee flexion contracture EMG abnormality Bradycardia Increased variability in muscle fiber diameter Preauricular skin tag Pachygyria Encephalocele Cerebellar vermis hypoplasia Brain atrophy Generalized muscle weakness Abnormal cerebellum morphology Retinal detachment Polymicrogyria Skeletal muscle hypertrophy Calf muscle hypertrophy Congenital cataract Buphthalmos Cephalocele Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Agyria Cerebellar cyst Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Myocardial fibrosis Multiple joint contractures Retinal dysplasia Ankle contracture Anencephaly Atrophy/Degeneration affecting the brainstem Weak cry Transposition of the great arteries Spinal rigidity Cortical dysplasia Generalized amyotrophy Pulmonic stenosis Arthrogryposis multiplex congenita Hirsutism Epiphyseal dysplasia Genu recurvatum Bell-shaped thorax Patellar dislocation Abnormal eyelash morphology Short clavicles Truncal obesity Short femoral neck Acne Metaphyseal widening Aplasia/Hypoplasia of the abdominal wall musculature Radioulnar synostosis Relative macrocephaly Disproportionate short-limb short stature Short long bone Short phalanx of finger Short metacarpal Single transverse palmar crease Small hand Thick vermilion border Broad ribs Toe clinodactyly Abnormality of the cerebral white matter Elevated serum creatine phosphokinase Dolichocephaly Dilated cardiomyopathy Muscular dystrophy Abnormality of the pinna Apnea Neonatal hypotonia Rigidity EEG abnormality Cerebellar hypoplasia Areflexia Advanced ossification of carpal bones Microphthalmia Myopathy Skeletal muscle atrophy Motor delay Visual impairment Cataract Muscle weakness Abnormality of the femoral neck or head region Decreased body weight Intellectual disability, progressive Arachnodactyly Decreased testicular size Deep-set nails Abnormality of metabolism/homeostasis Splenomegaly Fever Hepatomegaly Anemia Abnormally low-pitched voice Thin nail Arthralgia Hypoplastic toenails Redundant skin Sandal gap Abnormality of the fingernails Hoarse voice Tall stature Fine hair Abdominal pain Myalgia Hypertonia Cranial nerve paralysis Recurrent aphthous stomatitis Abnormality of the nose Uveitis Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Restrictive ventilatory defect Abnormal palate morphology Conjunctivitis Arthritis Vasculitis Abnormality of the genital system Nephrotic syndrome Nephropathy Ichthyosis Delayed puberty Skin rash Feeding difficulties in infancy Aplasia/Hypoplasia of the thymus Hernia of the abdominal wall Progressive spasticity Immunodeficiency Failure to thrive Severe hydrocephalus Hand clenching Aqueductal stenosis Down-sloping shoulders Hyperactive deep tendon reflexes Aphasia Osteopenia Hemiplegia/hemiparesis Adducted thumb Spastic paraparesis Paraparesis Muscle stiffness Lumbar hyperlordosis Abnormality of the nervous system Osteoporosis Coarse facial features Abnormality of the adrenal glands Polycystic ovaries Abnormality of the gastrointestinal tract Osteomalacia Abnormality of the musculature Telangiectasia of the skin Steatorrhea Abnormality of dental morphology Increased susceptibility to fractures Recurrent bacterial infections Malabsorption Skin ulcer Hyperpigmentation of the skin Lymphedema Chronic diarrhea Thickened skin Subcutaneous nodule Recurrent fractures Episcleritis Renal amyloidosis Tapered finger Nasal speech Narrow nasal bridge Long nose Disproportionate tall stature Emotional lability Obsessive-compulsive behavior Aortic aneurysm Schizophrenia Aortic root aneurysm Abnormality of the genitourinary system Short chin Narrow face Hallucinations Anorexia Dental crowding Open mouth Slender finger Macroorchidism Long face Mandibular prognathia Short foot Short distal phalanx of finger Falls Smooth philtrum Poor speech Intellectual disability, moderate Deeply set eye Micropenis Abnormality of the rib cage Absent speech Abnormally folded helix Cat cry Oppositional defiant disorder Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Psychosis Neurological speech impairment Congestive heart failure Abnormality of the ribs Short thorax Preaxial polydactyly Abnormality of the urinary system Spina bifida occulta Scapular winging Spina bifida Abnormal vertebral morphology Congenital diaphragmatic hernia Vertebral segmentation defect Confusion Respiratory tract infection Kyphoscoliosis Respiratory failure Polydactyly Recurrent respiratory infections Hernia Prominent occiput Abnormality of immune system physiology Attention deficit hyperactivity disorder Cervical C2/C3 vertebral fusion High forehead Hyperactivity Behavioral abnormality Abnormality of the dentition Rib segmentation abnormalities Abnormality of the odontoid process Block vertebrae Abnormality of the intervertebral disk Abnormality of the ureter Urogenital fistula Abnormality of female internal genitalia Anomalous pulmonary venous return Rib fusion Disproportionate short-trunk short stature Meningocele Double outlet right ventricle Hypoplasia of the pyramidal tract


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