Brachydactyly, and Irritability

Diseases related with Brachydactyly and Irritability

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


Top matches:

Medium match PSEUDOHYPOPARATHYROIDISM TYPE 1B


Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Medium match PSEUDOHYPOPARATHYROIDISM TYPE 1C


Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).

PSEUDOHYPOPARATHYROIDISM TYPE 1C Is also known as php ic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1C

Medium match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

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Other less relevant matches:

Medium 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

Medium match PSEUDOHYPOPARATHYROIDISM TYPE 1A


Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Medium 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

Medium match WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Low match YUNIS-VARON SYNDROME


Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Irritability

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Obesity Anxiety Microcephaly Hypothyroidism Prolonged QT interval Abnormality of the skeletal system Depressivity Hypertelorism Short neck Abnormal heart morphology Nystagmus Growth delay Pituitary resistance to thyroid hormone Low urinary cyclic AMP response to PTH administration Abdominal symptom Hypocalcemic tetany Hypergonadotropic hypogonadism Anteverted nares Strabismus Intrauterine growth retardation Cryptorchidism Anemia Epicanthus Hypocalcemic seizures Hypospadias Postnatal growth retardation Upslanted palpebral fissure Hepatomegaly Hypertension Myoclonic spasms Abnormal facial shape Pseudohypoparathyroidism Conjunctivitis Dyspnea Hyporeflexia Paresthesia Delayed eruption of teeth Muscle cramps Full cheeks Round face Short metacarpal Growth hormone deficiency Hypoplasia of dental enamel Increased bone mineral density Hypocalcemia Chest pain Elevated circulating parathyroid hormone level Reduced bone mineral density Hyperphosphatemia Cognitive impairment Laryngeal dystonia Calcinosis Hydroureter Wide nasal bridge Cerebral calcification Ventricular septal defect Abnormality of cardiovascular system morphology Hypertonia Hypoglycemia Short toe Toe syndactyly Confusion Muscular hypotonia Renal insufficiency Proptosis Autoimmune antibody positivity Umbilical hernia Atrial septal defect Hydrocephalus Hip dislocation Micrognathia Thin vermilion border Hearing impairment High palate Abnormality of the genital system Osteoma cutis Ectopic ossification Short fifth metatarsal Broad distal phalanx of the thumb Choroid plexus calcification Prolactin deficiency Hypogonadism Short 5th metacarpal Generalized hypotonia Osteoporosis Constrictive median neuropathy Short 4th metacarpal Oligomenorrhea Basal ganglia calcification Sensorineural hearing impairment Abnormality of the dentition Polyphagia Spasticity Short metatarsal Short 3rd metacarpal

Rare Symptoms - Less than 30% cases


Weight loss Diabetes mellitus High forehead Headache Choreoathetosis Severe short stature Thickened calvaria Exocrine pancreatic insufficiency Short finger Diarrhea Broad 1st metacarpal Abnormality of the liver Hyperostosis frontalis interna Elevated calcitonin Osteopenia Abnormal platelet function Neutropenia Spinal cord compression Band keratopathy Dandy-Walker malformation Type I diabetes mellitus Tetralogy of Fallot Finger syndactyly Patent ductus arteriosus Cleft palate Neoplasm Facial asymmetry Scoliosis Broad secondary alveolar ridge Abnormality of blood and blood-forming tissues Abnormality of digit Absent thumb Abnormality of the urinary system Short thumb Small nail Cerebellar vermis hypoplasia Clinodactyly of the 5th finger Preauricular pit Hypopigmentation of the skin High, narrow palate Meckel diverticulum Dolichocephaly Abnormal cardiac septum morphology Hypertrophic cardiomyopathy Polyhydramnios Microphthalmia Syndactyly Cardiomyopathy Respiratory distress Ventriculomegaly Macrocephaly Failure to thrive Hypoplasia of the corpus callosum Agenesis of corpus callosum Hyperreflexia Micropenis Feeding difficulties Hydronephrosis Tented upper lip vermilion Tetany Microtia Thick vermilion border Aganglionic megacolon Tapered finger Macroglossia Pain Dental malocclusion Renal agenesis Talipes equinovarus Recurrent urinary tract infections Vomiting Intellectual disability, severe Low-set ears Coxa valga Motor delay Short nose Triphalangeal thumb Multiple cafe-au-lait spots Leukopenia Azoospermia Myeloid leukemia Cranial nerve paralysis Renal hypoplasia/aplasia Ectopic kidney Tracheoesophageal fistula Hypopigmented skin patches Abnormality of vision Hyperinsulinemia Squamous cell carcinoma Myelodysplasia Glucose intolerance Hypoplasia of the ulna External ear malformation Acute myeloid leukemia Abnormality of the thumb Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the testis Absent radius Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Horseshoe kidney Telangiectasia Bone marrow hypocellularity Abnormality of dental structure Visual impairment Ptosis Increased bone density with cystic changes Cortical subperiosteal resorption of humeral metaphyses Ataxia Aplasia of the distal phalanx of the hallux Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Aplasia/Hypoplasia of the scapulae Abnormality of the occipital bone Fatigue Abnormal parietal bone morphology Tapered toe Abnormal pelvis bone morphology Short proximal phalanx of hallux Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Aplasia/Hypoplasia of the hallux Bilateral external ear deformity Absent sternal ossification Generalized hypotrichosis Abnormality of the scapula Fever Frontal bossing Spina bifida Vertigo Abnormal vertebral morphology Insulin resistance Cafe-au-lait spot Duodenal stenosis Choanal atresia Short palpebral fissure Pancytopenia Oligohydramnios Sloping forehead Lymphoma Bruising susceptibility Abnormality of skin pigmentation Astigmatism Congestive heart failure Anal atresia Hyperparathyroidism Abnormality of the foot Small for gestational age Leukemia Abnormality of the kidney Abnormality of the eye Carcinoma Pes planus Ectopic calcification Diaphyseal sclerosis Thrombocytopenia Primary hypothyroidism Low-grade fever Duplicated collecting system Bilateral talipes equinovarus Polysplenia Low hanging columella Broad foot Enlarged kidney Abnormal lung lobation Neuroblastoma Transposition of the great arteries Broad palm Vertebral fusion Vertebral segmentation defect Supernumerary nipple Bundle branch block Large for gestational age Duodenal atresia Cupped ear Nephroblastoma Abnormality of the voice Abnormality of the hand Relative macrocephaly Accelerated skeletal maturation Narrow palpebral fissure Multicystic kidney dysplasia Congenital hip dislocation Cardiac arrest Hoarse voice Preauricular skin tag Diastasis recti Renal neoplasm Tall stature Short 2nd finger Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Nephroblastomatosis Narrow sacroiliac notch 2-3 finger syndactyly Posterior helix pit Short sacroiliac notch Penoscrotal hypospadias Furrowed tongue Broad toe Embryonal neoplasm Hepatoblastoma Cervical ribs Pancreatic islet-cell hyperplasia Chordee Increased IgE level Ankyloglossia Ureteral duplication Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Abnormality of the helix Cerebral visual impairment Renal dysplasia Dyskinesia Anemic pallor Arrhythmia Pectus excavatum Hernia Splenomegaly Blindness Downslanted palpebral fissures Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Prolonged G2 phase of cell cycle Polydactyly Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Aplasia/Hypoplasia of the clavicles Inguinal hernia Mandibular prognathia Broad thumb Renal cyst Clumsiness Omphalocele Abnormality of the ribs Congenital diaphragmatic hernia Hypoplasia of penis Postaxial hand polydactyly Overgrowth Nail dysplasia Webbed neck Intestinal malrotation Bifid uvula Broad nasal tip Short foot Coarse facial features Retinal detachment Postaxial polydactyly Wide nose Short distal phalanx of finger Short palm Cleft upper lip Pulmonic stenosis Congenital cataract Neurological speech impairment Camptodactyly of finger Wide mouth Low-set, posteriorly rotated ears Cleft lip Gingival recession Short upper lip Hypoplastic facial bones Infantile muscular hypotonia Platyspondyly Joint stiffness Hyperlordosis Elevated hepatic transaminase Hepatosplenomegaly Jaundice Aspiration Acidosis Brachycephaly Hemivertebrae Drooling Delayed skeletal maturation Genu valgum Kyphosis Gait disturbance Radial deviation of finger Spastic diplegia Subcutaneous calcification Shortening of all distal phalanges of the fingers Parathyroid hyperplasia Microcytic anemia Congenital hypothyroidism Protruding tongue Shawl scrotum Hypermetropia Hepatic failure Male pseudohermaphroditism Hyperglycemia Irregular vertebral endplates Overweight Insulin-resistant diabetes mellitus Hypoplasia of the odontoid process Hyperuricemia Glycosuria Steatorrhea Neurodevelopmental delay Short thorax Abnormality of neuronal migration Spondyloepiphyseal dysplasia Epiphyseal dysplasia Nephropathy Wormian bones Ambiguous genitalia Abnormality of epiphysis morphology Abnormality of the metaphysis Blue sclerae Hepatitis Dehydration Microdontia Triangular face Recurrent fractures Coma Thick lower lip vermilion Subcutaneous nodule Facial hypotonia Cone-shaped epiphyses of the phalanges of the hand Attention deficit hyperactivity disorder Obsessive-compulsive behavior Spontaneous abortion Psychosis Coarctation of aorta Eczema Delayed myelination Asthma Nausea Dry skin Abnormality of the cerebral white matter Pruritus Skin rash Hypoplastic left heart Triangular mouth Aggressive behavior Widely-spaced maxillary central incisors Autism Hyperactivity Reduced alpha/beta synthesis ratio Endometriosis Hemoglobin H Behavioral abnormality Hypoganglionosis Tremor Malnutrition Scleroderma Chronic constipation Phenylpyruvic acidemia Volvulus Decreased serum testosterone level Hypochromic microcytic anemia Perimembranous ventricular septal defect Ileus Abnormal hemoglobin Involuntary movements U-Shaped upper lip vermilion Absent frontal sinuses Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Increased level of hippuric acid in urine Iron deficiency anemia Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Mood changes Abnormal posturing Generalized hypopigmentation Fair hair Blue irides Self-mutilation Poor coordination Ketoacidosis Renal tubular dysfunction Aplasia/Hypoplasia of the nails Abnormality of dental morphology Flexion contracture Thin ribs Severe hearing impairment Dysphagia Aplasia/Hypoplasia of the eyebrow Anonychia Flared metaphysis Metatarsus adductus Short middle phalanx of finger Rocker bottom foot Absent eyebrow Clitoral hypertrophy Short clavicles Sparse eyebrow Pyloric stenosis Abnormality of pelvic girdle bone morphology Sparse eyelashes Short chin Short ribs Sparse and thin eyebrow Hydrops fetalis Short phalanx of finger Large fontanelles Pachygyria Aplasia/Hypoplasia of the thumb Inverted nipples Pulmonary arterial hypertension Aplastic clavicle Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Hypoplasia of the frontal lobes Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Generalized neonatal hypotonia Increased nuchal translucency Wide cranial sutures Arrhinencephaly Congenital microcephaly Small earlobe Glossoptosis Bilateral microphthalmos Premature loss of primary teeth Absent nipple Aplasia/Hypoplasia of the nipples Redundant neck skin Abnormality of the neck Decreased skull ossification Hypoplastic scapulae Hypoplastic labia majora Abnormality of finger Sclerocornea Severe failure to thrive Sparse scalp hair Cardiomegaly Barrel-shaped chest Atlantoaxial dislocation Ivory epiphyses of the toes Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Chronic hepatic failure Decreased hip abduction Flat face Hip subluxation Pancreatic hypoplasia Central hypothyroidism Flattened epiphysis Narrow iliac wings Thoracolumbar kyphosis Carpal bone hypoplasia Enlarged thorax Small epiphyses Thin bony cortex Multiple epiphyseal dysplasia Acute hepatic failure Everted lower lip vermilion Intellectual disability, moderate Malar flattening Short philtrum Neuronal loss in central nervous system Cerebral atrophy Premature birth Hypodontia Midface retrusion Single transverse palmar crease Abnormality of metabolism/homeostasis Clinodactyly Hypotrichosis Constipation Severe global developmental delay Pneumonia Edema Sparse hair Protruding ear Abnormality of the pinna Posteriorly rotated ears Thin upper lip vermilion Macrotia Abdominal pain Narrow mouth Gastroesophageal reflux Cerebellar hypoplasia Kyphoscoliosis Telecanthus Two carpal ossification centers present at birth



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