Brachydactyly, and Headache

Diseases related with Brachydactyly and Headache

In the following list you will find some of the most common rare diseases related to Brachydactyly and Headache that can help you solving undiagnosed cases.


Top matches:

Low match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

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Other less relevant matches:

Low match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Low match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Low match SAETHRE-CHOTZEN SYNDROME


Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SAETHRE-CHOTZEN SYNDROME

Low match ACROOSTEOLYSIS


Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Low match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II


'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

Top 5 symptoms//phenotypes associated to Brachydactyly and Headache

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Dry skin Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Headache. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Low-set ears Downslanted palpebral fissures Hearing impairment Microcephaly Anemia Splenomegaly Migraine Growth delay Joint hyperflexibility Skeletal dysplasia Dental malocclusion Telecanthus Hypospadias Abnormality of cardiovascular system morphology Micrognathia Scoliosis Hypertelorism Cleft palate Abnormality of the dentition Abnormal facial shape Craniosynostosis Proportionate short stature Hepatomegaly Hydrocephalus Abnormality of the fingernails Recurrent respiratory infections Low anterior hairline Postnatal growth retardation Dolichocephaly Strabismus Failure to thrive Sensorineural hearing impairment Hypermetropia Macrocephaly Abnormality of the voice Full cheeks Wormian bones Proptosis Arthralgia Downturned corners of mouth Short neck Short distal phalanx of finger Trigonocephaly Thin vermilion border Patent ductus arteriosus Increased intracranial pressure Umbilical hernia Malar flattening Generalized hirsutism Open bite Convex nasal ridge Prominent nasal bridge Cataract Myopia Clinodactyly of the 5th finger Intrauterine growth retardation Arnold-Chiari malformation Abnormality of the skeletal system Hypertension Anteverted nares Frontal bossing Abnormal heart morphology Vomiting Inguinal hernia Conductive hearing impairment Posteriorly rotated ears Osteopenia High forehead Hypoplasia of the maxilla Brachycephaly Joint laxity

Rare Symptoms - Less than 30% cases


Cognitive impairment Microdontia Hernia Long philtrum Kyphosis Hyperreflexia Hyperactivity Anxiety Attention deficit hyperactivity disorder Peripheral neuropathy Delayed myelination Coarctation of aorta Hypoplasia of the corpus callosum Aggressive behavior Nasal speech High pitched voice Ventricular septal defect Coxa valga Osteoporosis Absent frontal sinuses Multiple renal cysts Patellar dislocation Atrial septal defect Periodontitis Decreased skull ossification Mitral stenosis Biconcave vertebral bodies Platybasia Rough bone trabeculation Hypoplastic 5th lumbar vertebrae Prominent occiput Partial absence of toe Neoplasm Cryptorchidism Clinodactyly Short columella Mandibular prognathia Intellectual disability, moderate Microtia Delayed cranial suture closure Syringomyelia Coarse hair Narrow mouth Upslanted palpebral fissure Coarse facial features Underdeveloped nasal alae Pectus carinatum Synophrys Delayed puberty Prominent nose Broad thumb Wide nose Iris coloboma Recurrent fractures Osteolysis Intestinal malrotation Bowing of the long bones Delayed skeletal maturation Dilatation Intellectual disability, mild Thickened skin Bone pain Short toe Aortic valve stenosis Skin ulcer Thick eyebrow Abnormality of the skull Craniofacial dysostosis Ptosis Myalgia Optic atrophy Cloverleaf skull Hepatosplenomegaly Coronal craniosynostosis Hypotelorism Turricephaly Bicoronal synostosis Skin rash Renal insufficiency Fatigue Delayed speech and language development Inflammatory abnormality of the eye Triphalangeal thumb High palate Pain Midface retrusion Anterior plagiocephaly Epidermal acanthosis Acanthosis nigricans Glomerulonephritis Arthritis Laryngomalacia Visual impairment Brachyturricephaly Abnormal form of the vertebral bodies Purpura Apraxia Interphalangeal joint contracture of finger Recurrent otitis media Hypoplasia of penis Short attention span Abnormality of the clavicle Low posterior hairline Cone-shaped epiphyses of the phalanges of the hand Enuresis Villous atrophy Otitis media Short palpebral fissure Finger clinodactyly Long eyelashes Short thumb Nephrocalcinosis Lipoma Abnormality of the hand Sprengel anomaly Short clavicles Increased number of teeth Celiac disease Language impairment Narrow forehead Clubbing Impulsivity Preauricular pit Visual field defect Malabsorption Broad nasal tip Polycystic kidney dysplasia Dysarthria Osteolytic defects of the phalanges of the toes Basilar invagination Premature loss of permanent teeth Basilar impression Flank pain Respiratory arrest Osteolytic defects of the phalanges of the hand Hematuria Cleft soft palate Joint hypermobility Paresthesia Respiratory tract infection Abnormality of the kidney Recurrent infections Cleft of chin Absent first metatarsal Partial duplication of the distal phalanx of the 2nd finger Gait disturbance Babinski sign Triangular face Short philtrum Small hand Hirsutism Bulbous nose Smooth philtrum Poor speech Enlarged joints Small for gestational age Neurological speech impairment Camptodactyly of finger Constipation Wide mouth Joint stiffness Feeding difficulties in infancy Hydronephrosis Deeply set eye Thin upper lip vermilion Kyphoscoliosis Gastroesophageal reflux Hypothyroidism 11 pairs of ribs Short upper lip Speech apraxia Severe intrauterine growth retardation Abnormality of the cerebral vasculature Short 1st metacarpal Hypoplastic scapulae Tracheal stenosis Hypoplastic iliac wing Increased intraocular pressure Radial bowing Severe postnatal growth retardation Dilatation of the cerebral artery Arterial stenosis Multiple cafe-au-lait spots Disproportionate short stature Slender long bone Tibial bowing Limited elbow extension Truncal obesity Aplasia/Hypoplasia of the eyebrow Flared metaphysis Aplasia/Hypoplasia of the earlobes Long clavicles Abnormality of dental morphology Proximal femoral epiphysiolysis Rootless teeth Alveolar process hypoplasia Overtubulated long bones Generalized microdontia Straight clavicles Ivory epiphyses Projectile vomiting High iliac wings Moyamoya phenomenon Ulnar bowing Thin clavicles Distal symphalangism Pseudoepiphyses of the metacarpals Forearm undergrowth Pseudoepiphyses Large sella turcica Narrow pelvis bone Abnormality of female external genitalia Shortening of all distal phalanges of the fingers Short middle phalanx of finger Cone-shaped epiphysis Hyperextensibility of the finger joints Congenital posterior urethral valve Generalized hypotonia Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris Epididymal cyst Congenital pseudoarthrosis of the clavicle Obesity Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Renotubular dysgenesis Spinal dysraphism Stiff neck Tethered cord Broad columella Ventriculomegaly Severe short stature Precocious puberty Hemiparesis Reduced number of teeth Hypopigmented skin patches Narrow palpebral fissure Coxa vara Cafe-au-lait spot Abnormality of epiphysis morphology Hypoplasia of dental enamel Abnormality of the metaphysis Sparse scalp hair Retrognathia Fine hair Type II diabetes mellitus Sloping forehead Limb undergrowth Hip dysplasia Abnormality of skin pigmentation Micromelia Narrow chest Stroke Partial duplication of the distal phalanx of the 3rd finger Abnormal nasolacrimal system morphology Prominent crus of helix Pseudopapilledema Amyloidosis Uveitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Abnormality of neutrophils Retrobulbar optic neuritis Abnormal joint morphology Abnormal granulocyte morphology Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Arthropathy Progressive sensorineural hearing impairment Folate deficiency Nausea and vomiting Recurrent myoglobinuria Exercise-induced muscle cramps Exercise-induced myoglobinuria Fever Edema Blindness EEG abnormality Papule Lymphadenopathy Elevated erythrocyte sedimentation rate Premature birth Overgrowth Meningitis Vasculitis Joint dislocation Reduced bone mineral density Urticaria Leukocytosis Body odor Mood changes Decreased mean corpuscular volume Abnormal palate morphology Hypopigmentation of the skin Nevus Autism Short metacarpal Depressivity Choanal atresia Behavioral abnormality Hypertonia Tremor Respiratory insufficiency Abnormality of the metacarpal bones Motor delay Melanocytic nevus Spasticity Aplasia/Hypoplasia of the cerebellum Choanal stenosis Short uvula Membranous nephropathy Irritability Abnormality of the liver Abnormal posturing Malnutrition Generalized hypopigmentation Fair hair Blue irides Self-mutilation Poor coordination Iron deficiency anemia Scleroderma Hypoplastic left heart Obsessive-compulsive behavior Pruritus Spontaneous abortion Psychosis Eczema Cerebral calcification Feeding difficulties Asthma Nausea Abnormality of the cerebral white matter Increased muscle fatiguability Myoglobinuria Proximal radio-ulnar synostosis Long nose Metopic synostosis Bilateral cleft lip Shallow orbits Narrow nose External ear malformation Abnormality of digit Vertebral fusion Broad hallux Blepharospasm Hallux valgus Epiphora Radioulnar synostosis Abnormality of pelvic girdle bone morphology Breast carcinoma Abnormality of the genitourinary system Sleep apnea Cutaneous syndactyly Abnormality of the antihelix Adrenal hyperplasia Narrow palate Flat forehead Premature closure of fontanelles Duplication of the distal phalanx of hand Deviated nasal septum Skull asymmetry Narrow internal auditory canal Mild hearing impairment Craniofacial asymmetry Adrenogenital syndrome Abnormal sacrum morphology Bilateral cleft lip and palate Parietal foramina Congenital adrenal hyperplasia Neoplasm of the breast Lacrimal duct stenosis Lambdoidal craniosynostosis Oxycephaly Buphthalmos Abnormal hair pattern Plagiocephaly Unicoronal synostosis Progressive encephalopathy Hypoplasia of the zygomatic bone Mental deterioration Paralysis Abnormality of the mandible Muscular dystrophy Retinal dystrophy Hemolytic anemia Muscle cramps Tetraparesis Exercise intolerance Rod-cone dystrophy Hyperbilirubinemia Spastic tetraparesis Hemiplegia Emotional lability Aphasia Rhabdomyolysis Acute kidney injury Reticulocytosis Jaundice Flexion contracture Elbow flexion contracture Broad forehead Bilateral single transverse palmar creases Amblyopia Ataxia Single transverse palmar crease Flat face Facial asymmetry Toe syndactyly Finger syndactyly Protruding ear Depressed nasal bridge Hyperlordosis Low-set, posteriorly rotated ears Cleft lip Myopathy Syndactyly Encephalopathy Epicanthus Visual loss Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines



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