Brachydactyly, and Hypothyroidism

Diseases related with Brachydactyly and Hypothyroidism

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


Top matches:

Low match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Low match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Low 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Low match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Low match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Low match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Low match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Top 5 symptoms//phenotypes associated to Brachydactyly and Hypothyroidism

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Short stature Generalized hypotonia Autism Failure to thrive Cataract Intrauterine growth retardation Seizures Diabetes mellitus Short nose Anteverted nares Myopia Microcephaly Scoliosis Hearing impairment Hypospadias Single transverse palmar crease Epicanthus Congenital hypothyroidism Absent speech Hypertelorism Long philtrum Sensorineural hearing impairment Strabismus Nystagmus Underdeveloped nasal alae Malar flattening Midface retrusion Obesity Micrognathia Anemia Hyperactivity Clinodactyly of the 5th finger Brachycephaly Mandibular prognathia Round face High forehead Hypertension

Rare Symptoms - Less than 30% cases


Toe syndactyly Vomiting Diarrhea Abnormal intestine morphology Kyphosis Alopecia High myopia Microretrognathia Red hair Abnormal cardiac septum morphology Blue irides Spinal canal stenosis Mild short stature Cone-shaped epiphysis Short metatarsal Fair hair Hypoplasia of the maxilla Protruding ear Short philtrum Cutaneous syndactyly Osteoporosis Micropenis Syndactyly Behavioral abnormality Wide nasal bridge Muscular hypotonia Central hypothyroidism Flexion contracture Prominent nasal bridge Autistic behavior Cerebellar hypoplasia Neonatal hypotonia Macrotia Gastroesophageal reflux Gait ataxia Cerebral cortical atrophy Clinodactyly Ventriculomegaly Ataxia Short neck Accelerated skeletal maturation Small hand Increased intracranial pressure Camptodactyly Short phalanx of finger Kyphoscoliosis Thin upper lip vermilion Posteriorly rotated ears Arthritis Depressed nasal bridge Low-set ears Broad nasal tip Rod-cone dystrophy Short metacarpal Protein-losing enteropathy Abnormality of the thorax Lambdoidal craniosynostosis Hypermelanotic macule Abnormality of the ear Metaphyseal widening Abnormality of the thyroid gland Narrow nasal bridge Osteolysis Arthropathy Knee flexion contracture Hip contracture Anterior hypopituitarism Ankle contracture Ankylosis Antinuclear antibody positivity Thickened skin Abnormality of the hypothalamus-pituitary axis Delayed CNS myelination Vertebral compression fractures Generalized osteoporosis Delayed closure of the anterior fontanelle Wrist flexion contracture Sclerocornea Microglossia Adrenal hypoplasia Postaxial foot polydactyly Gingival overgrowth Hypertrichosis Decreased body weight Uplifted earlobe Craniofacial dysostosis Congenital ptosis Parietal foramina Multiple exostoses Small sella turcica Cutaneous syndactyly between fingers 2 and 5 Gait disturbance Frontal bossing Pes cavus Flexion contracture of thumb Proptosis Osteopenia Small scrotum Orbital cyst Subcutaneous nodule Coarse facial features Inferior vermis hypoplasia Arthralgia Female hypogonadism Abnormality of the cervical spine Anterior pituitary hypoplasia Pes planus Corneal opacity Bulbous nose Hirsutism Delayed eruption of teeth Interphalangeal joint contracture of finger Foot polydactyly Split hand Generalized hypertrichosis Protrusio acetabuli Broad palm Progressive microcephaly Hypermetropia Smooth philtrum Tapered finger Febrile seizures Decreased testicular size Severe muscular hypotonia Abnormal vertebral morphology Renal hypoplasia Nail dysplasia Bifid uvula Microcornea Retinal dystrophy Dental crowding Postaxial polydactyly Plagiocephaly Spondyloepiphyseal dysplasia Mild microcephaly Cleft palate High palate Blindness Microphthalmia Agenesis of corpus callosum Iris coloboma Facial asymmetry Finger syndactyly Coloboma Craniosynostosis Polydactyly Decreased skull ossification Dolichocephaly Camptodactyly of toe Anophthalmia Short middle phalanx of finger Broad metatarsal Retrognathia Preaxial hand polydactyly Contractures of the large joints C1-C2 subluxation Finger swelling Severe generalized osteoporosis Metacarpal osteolysis Metatarsal osteolysis Carpal osteolysis Thin metacarpal cortices Bifid scrotum Osteolysis involving tarsal bones Aplasia/Hypoplasia of the corpus callosum Interphalangeal joint erosions Proximal placement of thumb Widened metacarpal shaft Ankylosis of feet small joints Peripheral opacification of the cornea Thin metatarsal cortices Distal tapering of metatarsals Sclerotic cranial sutures Recurrent infections Hernia Inguinal hernia Chorioretinal coloboma Narrow mouth Polyhydramnios Sparse lateral eyebrow Stereotypy Depressed nasal tip Cerebral venous thrombosis Broad distal phalanx of finger Abdominal pain Hypogonadism Severe short stature Growth hormone deficiency Specific learning disability Short toe Hypocalcemia Hyperphosphatemia Elevated circulating parathyroid hormone level Pseudohypoparathyroidism Hypoplastic vertebral bodies Elevated calcitonin Narrow vertebral interpedicular distance Broad columella Low urinary cyclic AMP response to PTH administration Hypoplasia of the nasal bone Absent/hypoplastic paranasal sinuses Congenital craniofacial dysostosis Hepatomegaly Ventricular septal defect Talipes equinovarus Thrombocytopenia Patent ductus arteriosus Dyspnea Hepatic failure Pulmonary hypoplasia Ascites Decreased fetal movement Wide nasal base Corneal dystrophy Large fontanelles Visual impairment Rheumatoid arthritis Malnutrition Scleroderma Thoracic kyphosis Thoracolumbar scoliosis Mucopolysacchariduria Stiff neck Peripheral edema Intestinal polyp Chronic diarrhea Bowing of the long bones Postural instability Nausea Genu valgum Motor delay Progressive hearing impairment Malabsorption Nausea and vomiting Cerebellar atrophy Intellectual disability, mild Platyspondyly Upslanted palpebral fissure Nail dystrophy Glaucoma Deeply set eye Low-set, posteriorly rotated ears Sparse hair Delayed myelination Short palpebral fissure Broad thumb Cholestasis Lymphedema Exostoses Protruding tongue Status epilepticus Tetraparesis Open mouth Postnatal microcephaly Cachexia Finger clinodactyly Absence seizures Drooling Tented upper lip vermilion Coarse hair Long nose Abnormality of the musculature Poor eye contact Shawl scrotum Nephrotic syndrome Ptosis Downslanted palpebral fissures Telecanthus Broad forehead Delayed puberty Downturned corners of mouth Prominent nose Abnormality of the genital system Wormian bones Sparse eyebrow Nephroblastoma Self-injurious behavior Aniridia Turricephaly Hypsarrhythmia Narrow forehead Decreased liver function Chronic rhinitis Tachypnea Hypoalbuminemia Abnormality of the renal tubule Primary hypothyroidism Abnormal isoelectric focusing of serum transferrin Abnormality of the skeletal system Skeletal dysplasia Joint stiffness Asthma Eczema Osteoarthritis Type I diabetes mellitus Rhinitis Cone-shaped epiphyses of the phalanges of the hand Edema Generalized-onset seizure Spasticity Feeding difficulties Hypoplasia of the corpus callosum Constipation EEG abnormality Aggressive behavior Muscular hypotonia of the trunk Postnatal growth retardation Severe global developmental delay Poor speech Thin vermilion border Generalized myoclonic seizures Urinary incontinence Esotropia Aplasia of the optic tract



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Hypodontia, related diseases and genetic alterations Intellectual disability, severe and Delayed myelination, related diseases and genetic alterations Optic atrophy and Developmental regression, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more