Abnormal facial shape, and Hyperhidrosis

Diseases related with Abnormal facial shape and Hyperhidrosis

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Hyperhidrosis that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly
  • Broad phalanges of the 5th finger


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Ectodermal dysplasia-14 of the hair/tooth type is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016).

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Hyperhidrosis
  • Hypotrichosis
  • Thick vermilion border


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14

Primary hypertrophic osteoarthropathy (PHO), which is also known as pachydermoperiostosis, is a rare genetic disease that affects the skin and bones. PHO is characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and skin manifestations that include thickened facial skin, a thickened scalp, and coarse facial features (summary by Zhang et al., 2012).For a discussion of genetic heterogeneity of PHO, see PHOAR1 (OMIM ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2 Is also known as pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive

Related symptoms:

  • Abnormal facial shape
  • Patent ductus arteriosus
  • Hyperhidrosis
  • Arthralgia
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2

Other less relevant matches:

Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.

SCHÖPF-SCHULZ-PASSARGE SYNDROME Is also known as palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|eccrine tumors with ectodermal dysplasia|ssps|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypot

Related symptoms:

  • Neoplasm
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Carcinoma


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SCHÖPF-SCHULZ-PASSARGE SYNDROME

Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Hyperhidrosis

Symptoms // Phenotype % cases
Flexion contracture Uncommon - Between 30% and 50% cases
Palmoplantar hyperkeratosis Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Abnormal facial shape and Hyperhidrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Syndactyly High palate Hypohidrosis Ectodermal dysplasia Hypodontia

Rare Symptoms - Less than 30% cases

Ptosis Hyperlordosis Protruding ear Peripheral neuropathy Hypotrichosis Carious teeth Depressed nasal bridge Low-set ears Respiratory distress Hypertonia Aplasia/Hypoplasia of the eyebrow Downslanted palpebral fissures Kyphoscoliosis Muscle weakness Postural instability Limitation of joint mobility Full cheeks Narrow mouth Long philtrum Anteverted nares Feeding difficulties Seizures Finger syndactyly Renal cell carcinoma Seborrheic dermatitis Coarse facial features Redundant skin Osteolytic defects of the phalanges of the hand Cutis gyrata of scalp Periostosis Subperiosteal bone formation Neoplasm Alopecia Thickened skin Clubbing Arthralgia Patent ductus arteriosus Carcinoma Nail dystrophy Wormian bones Osteoporosis Large fontanelles Abnormality of the foot Round face Scaling skin Patent foramen ovale Abnormal autonomic nervous system physiology Poor suck Lumbar hyperlordosis Osteopenia Elbow flexion contracture Sensorimotor neuropathy Flushing Acne Skin rash Clubbing of fingers Heart block Long clavicles Joint swelling Wide cranial sutures Hip pain Eczematoid dermatitis Facial palsy Disproportionate tall stature Apnea Arthritis Camptodactyly Feeding difficulties in infancy Growth hormone excess Arthropathy Erythema Thickened calvaria Clinodactyly Abnormality of the dentition Cubitus valgus Abnormality of the ear Wide intermamillary distance Microdontia Sparse scalp hair Sparse and thin eyebrow Bilateral single transverse palmar creases Abnormality of dental enamel Sparse eyelashes Abnormal dermatoglyphics Scrotal hypoplasia Brittle hair Abnormality of dental morphology Cutaneous finger syndactyly Triangular face Abnormality of the ureter Bilateral cleft lip Hypoplasia of the zygomatic bone Bilateral cleft lip and palate Anodontia Dystrophic toenail Sparse lateral eyebrow Dystrophic fingernails Pili torti Cutaneous syndactyly of toes Abnormality of the philtrum Nail dysplasia Highly arched eyebrow Radial deviation of finger Malar flattening 2-3 toe syndactyly Opisthotonus Limited elbow extension Thoracolumbar scoliosis Trismus Excessive salivation Unexplained fevers Cold-induced sweating Intellectual disability Wide nasal bridge Abnormal heart morphology Midface retrusion Oral cleft Recurrent respiratory infections Hypogonadism Macrotia EEG abnormality Cleft lip Abnormality of the kidney Sparse hair Neurological speech impairment Toe syndactyly Synophrys Cleft upper lip Delayed skeletal maturation Rigidity Pectus excavatum Motor delay Thin nail Facial telangiectasia Trichodysplasia Bird-like facies Abnormality of primary teeth Narrow nail Apocrine hidrocystoma Poroma Delayed speech and language development Dysarthria Toenail dysplasia Cerebellar atrophy Headache Vertigo Nausea Muscle cramps Specific learning disability Choreoathetosis Clumsiness Diplopia Plantar hyperkeratosis Premature loss of primary teeth Myotonia Hyperostosis Postaxial hand polydactyly Broad phalanges of the 5th finger Thick vermilion border Hypertrichosis Conical tooth Hypotrichosis of the scalp Oval face Low insertion of columella Large hands Elevated erythrocyte sedimentation rate Ridged nail Folliculitis Hyperkeratosis Abnormality of the eye Palmoplantar keratoderma Small nail Squamous cell carcinoma Basal cell carcinoma Ovarian neoplasm Onycholysis Muscle stiffness Calf muscle hypertrophy Growth delay Narrow palpebral fissure Paralysis Blepharophimosis Facial asymmetry Paresthesia Bifid uvula Sensory impairment Hypotelorism Hoarse voice Narrow face Scapular winging Deeply set eye Axonal degeneration Facial paralysis Chronic pain Dysesthesia Weak voice Neuritis Peripheral axonal degeneration Radial head subluxation Brachial plexus neuropathy Myalgia Upslanted palpebral fissure Blurred vision Wide nose Poor coordination Myokymia Hand clenching Tip-toe gait Craniofacial disproportion Cognitive impairment Respiratory insufficiency Kyphosis Camptodactyly of finger Sudden cardiac death Hyporeflexia Malignant hyperthermia Large face Short stature Epicanthus Skeletal muscle atrophy Fatigue Abnormality of the skeletal system Edema Depressivity Progressive hypotrichosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ptosis and Proximal muscle weakness, related diseases and genetic alterations Micrognathia and Severe short stature, related diseases and genetic alterations Anemia and Thick vermilion border, related diseases and genetic alterations Scoliosis and Progressive hearing impairment, related diseases and genetic alterations Microcephaly and Obesity, related diseases and genetic alterations Abnormal facial shape and Abnormality of extrapyramidal motor function, related diseases and genetic alterations