Brachydactyly, and Depressivity

Diseases related with Brachydactyly and Depressivity

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


Top matches:

Medium match OSTEOGLOSPHONIC DYSPLASIA


Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Medium match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Medium match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT 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 OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Medium match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Medium match LETHAL OSTEOSCLEROTIC BONE DYSPLASIA


Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Medium match PRADER-WILLI SYNDROME DUE TO A POINT MUTATION


SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

Medium match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Top 5 symptoms//phenotypes associated to Brachydactyly and Depressivity

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears 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 Depressivity. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly Microcephaly Anteverted nares Short neck Abnormality of the dentition Global developmental delay Syndactyly Hypoplasia of dental enamel Flexion contracture Short foot Short palm Cleft palate Abnormal heart morphology Abnormal facial shape Alopecia Depressed nasal bridge Cryptorchidism High palate Malar flattening Short nose Scoliosis Midface retrusion Frontal bossing Downslanted palpebral fissures Strabismus Retrognathia Joint laxity Bulbous nose Hydrocephalus Epicanthus Myopia Agenesis of corpus callosum Radial deviation of finger Telecanthus Hearing impairment Wide nasal bridge Intrauterine growth retardation Macrocephaly Obesity Respiratory distress Failure to thrive Short metacarpal Mandibular prognathia Inguinal hernia Delayed speech and language development Protruding ear

Rare Symptoms - Less than 30% cases


Sleep apnea Polymicrogyria Respiratory insufficiency Dyspnea Short finger Prolonged QT interval Ptosis Macroglossia Pectus excavatum Posteriorly rotated ears Depressed nasal ridge Round face Increased bone mineral density Abnormality of the face Plagiocephaly Behavioral abnormality Renal insufficiency Long philtrum Single transverse palmar crease Sensorineural hearing impairment Camptodactyly Talipes equinovarus Optic atrophy Choanal atresia Bowing of the long bones Anemia Short phalanx of finger Wide intermamillary distance Autism Gastroesophageal reflux Hydronephrosis Abnormality of the kidney Lymphedema Wide anterior fontanel Narrow naris Visual impairment Increased body weight Constipation Failure to thrive in infancy Short metatarsal Clinodactyly of the 5th finger Delayed eruption of teeth Nystagmus Apnea Hypertension Prominent forehead Delayed skeletal maturation Cognitive impairment Cataract Hypophosphatemia Broad palm Hernia Dilatation Hypodontia Downturned corners of mouth Underdeveloped nasal alae Joint hypermobility Generalized hypotonia Triangular face Hypoplasia of the maxilla Small hand Deeply set eye Wide mouth Arthrogryposis multiplex congenita Broad foot Volvulus Alveolar ridge overgrowth Microdontia Microretrognathia Severe short stature Cerebral calcification Retinal fold Large fontanelles Highly arched eyebrow Proptosis Retrocerebellar cyst High-pitched cry Cutis marmorata telangiectatica congenita Adactyly Dysphagia Pulmonary hypoplasia Micromelia Brachycephaly Respiratory failure Narrow mouth Retinal nonattachment Shallow orbits Aplasia cutis congenita of scalp Abnormality of the pancreas Gray matter heterotopias Hypothalamic hamartoma Tongue nodules Lobulated tongue Deviation of finger Pancreatic cysts Hepatic cysts Porencephalic cyst Dry hair Ovarian cyst Bifid tongue Abnormality of toe Abnormal cortical gyration Myelomeningocele Arachnoid cyst Median cleft lip Increased number of teeth Atrioventricular canal defect Nephronophthisis Agenesis of permanent teeth Milia Molar tooth sign on MRI Multiple glomerular cysts Trident hand Periventricular leukomalacia Gliosis Corpus callosum atrophy Aplasia cutis congenita Cutis marmorata Dermal atrophy Cerebral palsy Narrow palpebral fissure Low anterior hairline Gingival overgrowth Small nail Oligohydramnios Retinal detachment Growth delay Short distal phalanx of finger Congenital cataract Muscular hypotonia of the trunk Abnormality of the nervous system Cerebellar hypoplasia Cerebral atrophy Microphthalmia Hypertonia Hypoplasia of the corpus callosum Ventriculomegaly Spasticity Blue sclerae Choanal stenosis Narrow palate Temperature instability Umbilical hernia Abdominal pain Hyperactivity Intellectual disability, mild Ventricular septal defect Hepatomegaly Pain Intermittent hyperventilation Narrow palm Multiple pterygia Attention deficit hyperactivity disorder Abnormality of the philtrum Excessive salivation Hyperinsulinemic hypoglycemia Misalignment of teeth Fetal akinesia sequence Hyperventilation Hypoventilation Delayed ability to walk Short humerus Polyphagia Pes planus Hypermetropia Rocker bottom foot Genu recurvatum Curved linear dimple below the lower lip Increased upper to lower segment ratio Prominent umbilicus Frontoparietal polymicrogyria Osteochondritis Dissecans Hyperextensibility of the finger joints Broad philtrum Large earlobe Widow's peak Short 5th finger Hypoplasia of the odontoid process Pulmonic stenosis Shawl scrotum Macrocytic anemia Interstitial pulmonary abnormality Mild short stature Increased intracranial pressure Abnormality of the genital system Generalized-onset seizure Cirrhosis Cleft upper lip Delayed puberty Limited elbow extension Akinesia Abnormality of the genitourinary system Median cleft lip and palate Absent speech Kyphosis Feeding difficulties Hypoplastic nasal bridge Craniofacial disproportion Metaphyseal sclerosis Bilateral choanal atresia Mandibular aplasia Brachyturricephaly Long hallux Gingival fibromatosis Hypogonadism Generalized osteosclerosis Osteopetrosis Obstructive sleep apnea Protruding tongue Natal tooth Mixed hearing impairment Thoracic hypoplasia Delayed cranial suture closure Hydroureter Elevated alkaline phosphatase Hyperhidrosis Micropenis Impulsivity Esotropia Trigonocephaly Hyperinsulinemia Pterygium Poor suck Adducted thumb Exotropia Open mouth Short palpebral fissure Decreased fetal movement Narrow forehead Sleep disturbance Polyhydramnios Tapered finger Inability to walk Thick eyebrow Smooth philtrum Talipes Autistic behavior Hyperlordosis Neonatal hypotonia Hypoglycemia Coarse facial features Polycystic kidney dysplasia Pseudohypoparathyroidism Cutaneous syndactyly Short digit Rhizomelia Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short mandibular rami Clinodactyly of the 5th toe Abnormal form of the vertebral bodies First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Torsade de pointes T-wave inversion Left bundle branch block Ventricular extrasystoles Muscular hypotonia Blindness 2-3 toe syndactyly Hypoplasia of penis Profound global developmental delay Male pseudohermaphroditism Dysphasia Self-injurious behavior Encephalitis Tented upper lip vermilion Recurrent urinary tract infections Aganglionic megacolon Thick lower lip vermilion Ambiguous genitalia Limb undergrowth Everted lower lip vermilion Flat face Abnormality of movement Nausea and vomiting Spastic paraplegia Joint stiffness Feeding difficulties in infancy Platyspondyly Cerebral cortical atrophy Right bundle branch block Myotonia U-Shaped upper lip vermilion Broad metatarsal Thin upper lip vermilion Elevated serum creatine phosphokinase Arrhythmia Increased susceptibility to fractures Hypoplastic toenails Multiple unerupted teeth Unerupted tooth Pseudoarthrosis Broad metacarpals Broad phalanx Broad forehead Abnormal bone ossification Abnormality of the nasopharynx Renal phosphate wasting Chordee Nasal obstruction Cloverleaf skull Spondyloepimetaphyseal dysplasia Hypoplastic scapulae Abnormality of the clavicle Reduced number of teeth Dilated cardiomyopathy Growth abnormality Specific learning disability Ventricular arrhythmia Oligodontia Reduced tendon reflexes Abnormal palate morphology Ventricular tachycardia Scapular winging Bilateral single transverse palmar creases Cardiac arrest Palpitations Febrile seizures Dolichocephaly Syncope Sudden cardiac death Broad nasal tip High, narrow palate Wide nose Disproportionate short-limb short stature Thin vermilion border Limb muscle weakness Toe syndactyly Abnormal hemoglobin Abnormality of fontanelles Hepatic fibrosis Hypocalcemia Laryngeal dystonia Tetany Autoimmune antibody positivity Elevated circulating parathyroid hormone level Calcinosis Hyperphosphatemia Hyperparathyroidism Reduced bone mineral density Conjunctivitis Growth hormone deficiency Hypocalcemic seizures Chest pain Full cheeks Muscle cramps Dyskinesia Paresthesia Irritability Anxiety Hyporeflexia Abnormality of the zygomatic bone Ectopic calcification Myoclonic spasms Birth length less than 3rd percentile Cleft lip Bifid uvula Abnormal cerebellum morphology Postaxial polydactyly Stage 5 chronic kidney disease Oral cleft Facial asymmetry Carious teeth Abnormality of the cerebral white matter Sparse hair Proteinuria Hypocalcemic tetany Polydactyly Tremor Dysarthria Cortical subperiosteal resorption of humeral metaphyses Increased bone density with cystic changes Pituitary resistance to thyroid hormone Low urinary cyclic AMP response to PTH administration Abdominal symptom Diaphyseal sclerosis Hypoplastic facial bones Enlarged epiphyses Abnormality of the male genitalia Hypotrichosis Congenital hip dislocation Insulin resistance Decreased body weight Thin skin Bilateral sensorineural hearing impairment Abnormality of the skin Dental malocclusion Microcornea Joint hyperflexibility Hip dislocation Short chin Neurological speech impairment Corneal opacity Small for gestational age Macrotia Weight loss Glaucoma Diabetes mellitus Hypospadias Craniosynostosis Nephrocalcinosis Abnormality of dental enamel Rieger anomaly Insulin-resistant diabetes mellitus Abnormality of the mandible Abnormal anterior chamber morphology Excessive wrinkled skin Dimple chin Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Megalocornea Opacification of the corneal stroma Poor appetite Abnormality of the immune system Lipoatrophy Reduced subcutaneous adipose tissue Congenital glaucoma Glucose intolerance Hyperglycemia Lipodystrophy Prominent supraorbital ridges Cervical spine hypermobility



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