Brachydactyly, and Growth hormone deficiency

Diseases related with Brachydactyly and Growth hormone deficiency

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


Top matches:

Medium match BOOMERANG DYSPLASIA


Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

Medium match ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

Medium 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

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Other less relevant matches:

Medium match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Medium match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

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 TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

Medium match PALLISTER-HALL SYNDROME; PHS


Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

Medium match 15Q24 MICRODELETION SYNDROME


15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Growth hormone deficiency

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Cognitive impairment Micrognathia Growth delay Intrauterine growth retardation Delayed eruption of teeth Abnormality of the skeletal system Abnormal facial shape Cryptorchidism Short metacarpal Hypocalcemia Anteverted nares Increased bone mineral density Hearing impairment Hypospadias Hypogonadism Round face Short toe Delayed skeletal maturation Hyperphosphatemia Elevated circulating parathyroid hormone level High forehead Dyspnea Low urinary cyclic AMP response to PTH administration Nystagmus Joint hyperflexibility Joint laxity Abnormality of the dentition Delayed puberty Deeply set eye Pseudohypoparathyroidism Small nail Delayed speech and language development Macrocephaly Global developmental delay Abnormality of cardiovascular system morphology Severe short stature Wide nasal bridge

Rare Symptoms - Less than 30% cases


Vaginal atresia Thick nasal alae Short palm Short long bone Hydrometrocolpos Genu valgum Downslanted palpebral fissures Intellectual disability, mild Short nose External genital hypoplasia Limb undergrowth Microphthalmia Micropenis Osteoarthritis Posteriorly rotated ears Toe syndactyly Recurrent infections Single transverse palmar crease Abnormality of the genital system Neoplasm Microretrognathia Microphallus Abnormality of the thorax Bone pain Abnormal vertebral morphology Abnormality of epiphysis morphology Bilateral single transverse palmar creases Cataract Protruding ear Ventriculomegaly Pituitary resistance to thyroid hormone Abdominal symptom Short 4th metacarpal Generalized hypotonia Microcephaly Hypocalcemic tetany Myoclonic spasms Hypocalcemic seizures Laryngeal dystonia Muscular hypotonia Cleft palate Blue sclerae Calcinosis Long philtrum Low-set, posteriorly rotated ears Prolonged QT interval Conjunctivitis Hypoplasia of dental enamel Chest pain Full cheeks Muscle cramps Paresthesia Irritability Anxiety Syndactyly Polydactyly Macrotia Hyporeflexia Depressivity Autoimmune antibody positivity Short neck Mild short stature Hyperlordosis Finger syndactyly Malar flattening Midface retrusion Narrow chest Hyperactivity Autism Micromelia Pain Skeletal dysplasia Underdeveloped nasal alae Short metatarsal Cone-shaped epiphysis Osteoporosis Prominent forehead Spinal canal stenosis Polyhydramnios Kyphosis Short distal phalanx of finger Alopecia Cutaneous syndactyly Hamartoma Hip dislocation Hypopituitarism Microtia Respiratory tract infection Abnormality of the kidney Hydronephrosis Oligodactyly Natal tooth Abnormal lung lobation Postaxial foot polydactyly Adrenal hypoplasia Respiratory failure Omphalocele Abnormal heart morphology Patent ductus arteriosus Anal atresia Cleft upper lip Holoprosencephaly Decreased testicular size Scrotal hypoplasia Atresia of the external auditory canal Hemivertebrae Renal dysplasia Precocious puberty Choanal atresia Renal hypoplasia Postaxial hand polydactyly Hydrops fetalis Mesomelia Nail dysplasia Bifid uvula Renal cyst Bilateral cryptorchidism Adrenal insufficiency Ectopic kidney Postaxial polydactyly Hydroureter Renal agenesis Abnormality of the skin Short ribs Exotropia Preaxial polydactyly Redundant skin Deep philtrum Recurrent upper respiratory tract infections Abnormal palate morphology Scapular winging Joint dislocation Abnormality of tibia morphology Gynecomastia Recurrent urinary tract infections Exostoses Sparse scalp hair Hip dysplasia Ectodermal dysplasia Vesicoureteral reflux Nevus Thick eyebrow Bulbous nose Joint hypermobility Talipes Stroke Increased number of teeth Cone-shaped epiphyses of the phalanges of the hand Behavioral abnormality Persistent cloaca Ventricular septal defect Abnormality of the metacarpal bones Feeding difficulties Upper airway obstruction Ptosis Redundant skin in infancy Multiple long-bone exostoses Scapular exostoses Rib exostoses Mild postnatal growth retardation Spinal cord compression Aplasia/Hypoplasia of the mandible Absent toe Absent radius Prune belly Multiple exostoses Aplasia/Hypoplasia of the lungs Abnormality of the ulna Avascular necrosis of the capital femoral epiphysis Oligospermia Fragile nails Microglossia Bilateral choanal atresia Decreased circulating cortisol level Fine hair Abnormality of the outer ear Widely spaced teeth Sandal gap Pointed chin Narrow face Hoarse voice Sparse and thin eyebrow Cafe-au-lait spot Short thumb Open mouth Thick lower lip vermilion Abnormality of the voice Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Delayed myelination Tapered finger Sleep disturbance Highly arched eyebrow Small hand High, narrow palate Iris coloboma Wide nose Nasal speech Proximal placement of thumb Thin vermilion border Unilateral cryptorchidism Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Long palm Large fleshy ears Dysplastic corpus callosum Anisocoria Flared nostrils Toe clinodactyly Deep plantar creases Abnormality of nervous system morphology Cupped ear Wide nasal base Thick hair Intestinal atresia Overlapping fingers Thick upper lip vermilion High anterior hairline Insomnia Abnormality of digit Slender finger Radial deviation of finger Polymicrogyria Long face Panhypopituitarism Distal urethral duplication High palate Strabismus Hypertelorism Diverticulosis of trachea Mesoaxial foot polydactyly Midline facial capillary hemangioma Distal shortening of limbs Preductal coarctation of the aorta Primitive neuroectodermal tumor Bifid epiglottis Y-shaped metacarpals Hypoplasia of the corpus callosum Mesoaxial hand polydactyly Thyroid dysgenesis Mesoaxial polydactyly Hypothalamic hamartoma Laryngeal cleft Radial head subluxation Hypoplasia of the epiglottis Mandibular aplasia Joint stiffness Rib fusion Epicanthus Intellectual disability, severe Arachnodactyly Postnatal growth retardation Smooth philtrum Facial asymmetry Hypermetropia Severe global developmental delay Small for gestational age Broad forehead Prominent nasal bridge Attention deficit hyperactivity disorder Camptodactyly of finger Autistic behavior Developmental regression Hypertonia Feeding difficulties in infancy Muscular hypotonia of the trunk Aggressive behavior Narrow mouth Upslanted palpebral fissure Pes cavus Inguinal hernia Clinodactyly Hernia Dilatation Immunodeficiency Sparse hair Abnormal bone ossification Abnormality of femur morphology High pitched voice Delayed menarche Immune dysregulation Concave nasal ridge Abnormality of the elbow Underdeveloped supraorbital ridges Proportionate short stature Prematurely aged appearance Hydrocephalus Truncal obesity Keratitis Hypoplastic nasal bridge Reduced number of teeth Splenomegaly Hypercholesterolemia Increased body weight Lymphopenia Hypohidrosis Chronic diarrhea Abnormal lung morphology Depressed nasal ridge Hypoplasia of penis Aplasia/Hypoplasia involving the nose Lymphoid interstitial pneumonia Microdontia Absent/hypoplastic paranasal sinuses Hyperinsulinemia Genu varum Disproportionate short-limb short stature Hypogonadotrophic hypogonadism Rhizomelia Abnormality of the metaphysis Type II diabetes mellitus Lumbar hyperlordosis Bilateral sensorineural hearing impairment Waddling gait Gait disturbance Short foot Sensory neuropathy Congenital craniofacial dysostosis Anemia Platyspondyly Hepatomegaly Arthritis Arthralgia Osteopenia Frontal bossing Eczema Progressive visual loss Metaphyseal widening Abnormality of pelvic girdle bone morphology Abnormality of the clavicle Abnormality of the vertebral column Agenesis of permanent teeth Prominent occiput Osteomyelitis Abnormality of dental morphology Carious teeth Back pain Increased susceptibility to fractures Sleep apnea Osteolytic defects of the phalanges of the hand Osteolysis Abnormality of the fingernails Narrow palate Wormian bones Abnormality of the nail Recurrent fractures Postural instability Hypodontia Abnormality of the face Hypoplasia of the maxilla Osteopetrosis Spondylolisthesis Hypoglycemia Abnormal pelvis bone ossification Pneumonia Brachycephaly Proptosis Diarrhea Respiratory distress Motor delay Failure to thrive Hepatosplenomegaly Apnea Craniosynostosis Persistent open anterior fontanelle Ridged nail Osteolytic defects of the distal phalanges of the hand Spondylolysis 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 Small face Epiphyseal dysplasia Scaling skin Aplasia/Hypoplasia of the abdominal wall musculature Mandibular prognathia Hypergonadotropic hypogonadism Cerebral calcification Confusion Hypothyroidism Cortical subperiosteal resorption of humeral metaphyses Increased bone density with cystic changes Diaphyseal sclerosis Diabetes mellitus Ectopic calcification Tetany Basal ganglia calcification Specific learning disability Short phalanx of finger Hyperparathyroidism Accelerated skeletal maturation Reduced bone mineral density Increased intracranial pressure Congenital hypothyroidism Dyskinesia Blue irides Fair hair Polyphagia Oligomenorrhea Hypoplastic vertebral bodies Severe short-limb dwarfism Conductive hearing impairment Thin upper lip vermilion Coronal cleft vertebrae Abnormality of the humerus Fibular aplasia Abnormality of the radius Prominent nose Abnormally ossified vertebrae Talipes equinovarus Aplasia/Hypoplasia of the fibula Hypoplastic iliac body Poorly ossified vertebrae Hypoplastic nasal septum Osteoma cutis Choroid plexus calcification Broad distal phalanx of the thumb Short fifth metatarsal Short 3rd metacarpal Ectopic ossification Prolactin deficiency Short 5th metacarpal Constrictive median neuropathy Red hair Elevated calcitonin Rickets Upper limb undergrowth Small epiphyses Irregular epiphyses Decreased serum testosterone level Intestinal polyposis Enlarged joints Multiple epiphyseal dysplasia Beaking of vertebral bodies Delayed epiphyseal ossification Genu recurvatum Insulin-resistant diabetes mellitus Ulnar deviation of the hand Hypoplasia of the odontoid process Abnormal joint morphology Metaphyseal dysplasia Disproportionate short stature Abnormality of the hip bone Limited elbow extension Flared metaphysis Bowing of the legs Spondyloepiphyseal dysplasia Metaphyseal irregularity Decreased serum estradiol Myelopathy Renal insufficiency Childhood onset short-limb short stature Cerebral venous thrombosis Narrow vertebral interpedicular distance Hypoplasia of the nasal bone Small epiphyses of the phalanges of the hand Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Lumbar spinal canal stenosis Limited hip extension Carpal bone hypoplasia Irregular carpal bones Flared femoral metaphysis Cervical cord compression Cervical instability Premature osteoarthritis Cervical myelopathy Ulnar deviation of the wrist Atlantoaxial dislocation Decreased testosterone in males Hamartomatous polyposis Abnormality of the proximal phalanx of the thumb



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