Pain, and Craniosynostosis

Diseases related with Pain and Craniosynostosis

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


Top matches:

Low match X-LINKED HYPOPHOSPHATEMIA


X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.

X-LINKED HYPOPHOSPHATEMIA Is also known as xlh|x-linked hypophosphatemic rickets

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormality of the dentition
  • Craniosynostosis
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED HYPOPHOSPHATEMIA

Low match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1


HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1 Is also known as hypophosphatemia, autosomal recessive|arhr|arhp

Related symptoms:

  • Sensorineural hearing impairment
  • Pain
  • Joint stiffness
  • Craniosynostosis
  • Carious teeth


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1

Low match CHILDHOOD-ONSET HYPOPHOSPHATASIA


Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia (see this term) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.

CHILDHOOD-ONSET HYPOPHOSPHATASIA Is also known as childhood-onset phosphoethanolaminuria|childhood-onset rathburn disease

Related symptoms:

  • Seizures
  • Short stature
  • Pain
  • Motor delay
  • Frontal bossing


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET HYPOPHOSPHATASIA

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Other less relevant matches:

Low match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR


Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Pain


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Low match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Low match AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS


Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.

AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS Is also known as arhr

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS

Low match NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION


NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

Low match BUSCHKE-OLLENDORFF SYNDROME


Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Low match CRANIOSYNOSTOSIS 7; CRS7


Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

CRANIOSYNOSTOSIS 7; CRS7 Is also known as crs7, digenic|craniosynostosis 7, digenic

Related symptoms:

  • Delayed speech and language development
  • Craniosynostosis


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 7; CRS7

Low match PERINATAL LETHAL HYPOPHOSPHATASIA


Perinatal lethal hypophosphatasia (PL-HPP) is a very rare form of hypophosphatasia (see this term) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.

PERINATAL LETHAL HYPOPHOSPHATASIA Is also known as hops|perinatal lethal rathburn disease|phosphoethanolaminuria|perinatal lethal phosphoethanolaminuria

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERINATAL LETHAL HYPOPHOSPHATASIA

Top 5 symptoms//phenotypes associated to Pain and Craniosynostosis

Symptoms // Phenotype % cases
Bone pain Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Rickets Uncommon - Between 30% and 50% cases
Bowing of the legs Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Craniosynostosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Osteomalacia Seizures Rachitic rosary Hearing impairment Generalized hypotonia Dolichocephaly Arthralgia Arthritis Abnormality of the skeletal system Renal phosphate wasting Hypophosphatemic rickets Coxa vara Carious teeth Genu varum Sensorineural hearing impairment Hypophosphatemia Constipation

Rare Symptoms - Less than 30% cases


Hypertension Elevated urine pyrophosphate Premature loss of teeth Hypercalcemia Phosphoethanolaminuria Scoliosis Hypercalciuria Delayed eruption of teeth Skeletal dysplasia Vomiting Fever Spinal canal stenosis Abnormality of the lower limb Skin dimple over apex of long bone angulation Elevated plasma pyrophosphate Feeding difficulties Low alkaline phosphatase Recurrent fractures Tooth abscess Joint stiffness Increased bone mineral density Abnormality of the metaphysis Enthesitis Proptosis Premature loss of primary teeth Waddling gait Atypical scarring of skin Cutaneous finger syndactyly Scleroderma Multiple lipomas Subcutaneous nodule Flat occiput Generalized hypopigmentation Hemangioma Hoarse voice Lymphedema Abnormal cortical bone morphology Abnormality of epiphysis morphology Hyperostosis Papule Nevus Sparse lateral eyebrow Bicuspid aortic valve Oligodontia Overlapping toe Long palpebral fissure Inverted nipples Thickened nuchal skin fold Wide nasal ridge Palmoplantar keratoderma Strabismus Flexion contracture Visual impairment Skeletal muscle atrophy Renal insufficiency Myalgia Abnormal aortic morphology Generalized osteosclerosis Diffuse skin atrophy Generalized limb muscle atrophy Platyspondyly Increased susceptibility to fractures Intracranial hemorrhage Disproportionate short-limb short stature Abnormality of the voice Nephrocalcinosis Hyperphosphatemia Short ribs Anorexia Blue sclerae Metaphyseal cupping Micromelia Skin dimples Short lower limbs Open mouth Irritability Abnormal bone structure Microcephaly Osteopoikilosis Connective tissue nevi Decreased calvarial ossification Complete duplication of the distal phalanges of the hand Abnormal axial skeleton morphology Delayed speech and language development Failure to thrive Vertebral clefting Muscular hypotonia Widely patent fontanelles and sutures Anemia Recurrent respiratory infections Polyhydramnios Apnea Sacral dimple Pseudo-fractures Hip dysplasia Hyperparathyroidism Tibial bowing Malabsorption Muscle weakness Growth delay Pulmonary insufficiency Chronic pain Chondrocalcinosis Papilledema Increased intracranial pressure Respiratory failure Brachycephaly Pneumonia Headache Respiratory distress Elevated alkaline phosphatase Hyperphosphaturia Generalized muscle weakness Muscle cramps Genu valgum Fatigue Hypoplasia of dental enamel Osteoporosis Myopathy Frontal bossing Motor delay Thickened calvaria Back pain Abnormality of dental enamel Joint dislocation Osteoarthritis Lower limb asymmetry Enlargement of the wrists Wide intermamillary distance Downslanted palpebral fissures Underdeveloped nasal alae Downturned corners of mouth Postaxial polydactyly Long face Poor speech Neurological speech impairment Microtia Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Polydactyly Hyperactivity Hyporeflexia Pectus excavatum Ventricular septal defect High palate Hypocalcemic tetany Rickets of the lower limbs Sclerotic vertebral endplates Polyarticular arthritis Abnormality of the sacroiliac joint Elevated alkaline phosphatase of bone origin Renal hypophosphatemia Abnormal trabecular bone morphology Distal femoral bowing Ptosis Low serum calcitriol Abnormality of vitamin D metabolism Abnormality of renal excretion Intellectual disability Global developmental delay Cryptorchidism Unossified vertebral bodies



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